Autophagy Dysfunction in ALS: from Transport to Protein Degradation (original ) (raw )
Abramzon YA, Fratta P, Traynor BJ, Chia R (2020) The overlapping genetics of amyotrophic lateral sclerosis and frontotemporal dementia. Front Neurosci 14:42. https://doi.org/10.3389/fnins.2020.00042 Article PubMed PubMed Central Google Scholar
Acharya U, Jacobs R, Peters JM et al (1995) The formation of Golgi stacks from vesiculated Golgi membranes requires two distinct fusion events. Cell 82:895–904. https://doi.org/10.1016/0092-8674(95)90269-4 Article CAS PubMed Google Scholar
Aizawa H, Sekine Y, Takemura R et al (1992) Kinesin family in murine central nervous system. J Cell Biol 119:1287–1296. https://doi.org/10.1083/jcb.119.5.1287 Article CAS PubMed Google Scholar
Aliaga L, Lai C, Yu J et al (2013) Amyotrophic lateral sclerosis-related VAPB P56S mutation differentially affects the function and survival of corticospinal and spinal motor neurons. Hum Mol Genet 22:4293–4305. https://doi.org/10.1093/hmg/ddt279 Article CAS PubMed PubMed Central Google Scholar
Amenta JS, Hlivko TJ, McBee AG et al (1978) Specific inhibition by NH4CL of autophagy-associated proteloysis in cultured fibroblasts. Exp Cell Res 115:357–366. https://doi.org/10.1016/0014-4827(78)90289-6 Article CAS PubMed Google Scholar
Amick J, Roczniak-Ferguson A, Ferguson SM (2016) C9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling. Mol Biol Cell 27:3040–3051. https://doi.org/10.1091/mbc.e16-01-0003 Article CAS PubMed PubMed Central Google Scholar
Amick J, Tharkeshwar AK, Talaia G, Ferguson SM (2020) PQLC2 recruits the C9orf72 complex to lysosomes in response to cationic amino acid starvation. J Cell Biol. https://doi.org/10.1083/jcb.201906076 Article PubMed Google Scholar
Anagnostou G, Akbar MT, Paul P et al (2010) Vesicle associated membrane protein B (VAPB) is decreased in ALS spinal cord. Neurobiol Aging 31:969–985. https://doi.org/10.1016/j.neurobiolaging.2008.07.005
Ao X, Zou L, Wu Y (2014) Regulation of autophagy by the Rab GTPase network. Cell Death Differ 21:348–358. https://doi.org/10.1038/cdd.2013.187 Article CAS PubMed PubMed Central Google Scholar
Aoki Y, Manzano R, Lee Y et al (2017) C9orf72 and RAB7L1 regulate vesicle trafficking in amyotrophic lateral sclerosis and frontotemporal dementia. Brain 140:887–897. https://doi.org/10.1093/brain/awx024 Article PubMed Google Scholar
Arai T, Nonaka T, Hasegawa M et al (2003) Neuronal and glial inclusions in frontotemporal dementia with or without motor neuron disease are immunopositive for p62. Neurosci Lett 342:41–44. https://doi.org/10.1016/s0304-3940(03)00216-7 Article CAS PubMed Google Scholar
Arhzaouy K, Papadopoulos C, Schulze N et al (2019) VCP maintains lysosomal homeostasis and TFEB activity in differentiated skeletal muscle. Autophagy 15:1082–1099. https://doi.org/10.1080/15548627.2019.1569933 Article CAS PubMed PubMed Central Google Scholar
Atanasio A, Decman V, White D et al (2016) C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production and glomerulonephropathy in mice. Sci Rep 6:23204. https://doi.org/10.1038/srep23204 Article CAS PubMed PubMed Central Google Scholar
Atkinson RAK, Fernandez-Martos CM, Atkin JD et al (2015) C9ORF72 expression and cellular localization over mouse development. Acta Neuropathol Commun 3:59. https://doi.org/10.1186/s40478-015-0238-7 Article CAS PubMed PubMed Central Google Scholar
Babu J, Lamar Seibenhener M, Peng J et al (2008) Genetic inactivation of p62 leads to accumulation of hyperphosphorylated tau and neurodegeneration. J Neurochem 106:107–120. https://doi.org/10.1111/j.1471-4159.2008.05340.x Article CAS Google Scholar
Babu JR, Geetha T, Wooten MW (2005) Sequestosome 1/p62 shuttles polyubiquitinated tau for proteasomal degradation. J Neurochem 94:192–203. https://doi.org/10.1111/j.1471-4159.2005.03181.x Article CAS PubMed Google Scholar
Barker H, v., Niblock M, Lee Y-B et al (2017) RNA misprocessing in C9orf72-linked neurodegeneration. Front Cell Neurosci. https://doi.org/10.3389/fncel.2017.00195 Article PubMed PubMed Central Google Scholar
Baron DM, Fenton AR, Saez-Atienzar S et al (2022) ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function. Cell Rep 39:110598. https://doi.org/10.1016/j.celrep.2022.110598 Article CAS PubMed PubMed Central Google Scholar
Beeldman E, van der Kooi AJ, de Visser M et al (2015) A Dutch family with autosomal recessively inherited lower motor neuron predominant motor neuron disease due to optineurin mutations. Amyotroph Lateral Scler Frontotemporal Degener 16:410–411. https://doi.org/10.3109/21678421.2015.1066821 Article PubMed Google Scholar
Bharadwaj R, Cunningham KM, Zhang K, Lloyd TE (2016) FIG4 regulates lysosome membrane homeostasis independent of phosphatase function. Hum Mol Genet 25:681–692. https://doi.org/10.1093/hmg/ddv505 Article CAS PubMed Google Scholar
Bingol B (2018) Autophagy and lysosomal pathways in nervous system disorders. Mol Cell Neurosci 91:167–208. https://doi.org/10.1016/j.mcn.2018.04.009 Article CAS PubMed Google Scholar
Bjørkøy G, Lamark T, Brech A et al (2005) p62/SQSTM1 forms protein aggregates degraded by autophagy and has a protective effect on huntingtin-induced cell death. J Cell Biol 171:603–614. https://doi.org/10.1083/jcb.200507002 Article CAS PubMed PubMed Central Google Scholar
Boeynaems S, Bogaert E, Kovacs D et al (2017) Phase separation of C9orf72 dipeptide repeats perturbs stress granule dynamics. Mol Cell 65:1044-1055.e5. https://doi.org/10.1016/j.molcel.2017.02.013 Article CAS PubMed PubMed Central Google Scholar
Bonnard M, Mirtsos C, Suzuki S et al (2000) Deficiency of T2K leads to apoptotic liver degeneration and impaired NF-kappaB-dependent gene transcription. EMBO J 19:4976–4985. https://doi.org/10.1093/emboj/19.18.4976 Article CAS PubMed PubMed Central Google Scholar
Borghero G, Pugliatti M, Marrosu F et al (2016) TBK1 is associated with ALS and ALS-FTD in Sardinian patients. Neurobiol Aging 43:180.e1–5. https://doi.org/10.1016/j.neurobiolaging.2016.03.028 Article CAS Google Scholar
Botelho RJ, Efe JA, Teis D, Emr SD (2008) Assembly of a Fab1 phosphoinositide kinase signaling complex requires the Fig4 phosphoinositide phosphatase. Mol Biol Cell 19:4273–4286. https://doi.org/10.1091/mbc.e08-04-0405 Article CAS PubMed PubMed Central Google Scholar
Boyault C, Gilquin B, Zhang Y et al (2006) HDAC6-p97/VCP controlled polyubiquitin chain turnover. EMBO J 25:3357–3366. https://doi.org/10.1038/sj.emboj.7601210 Article CAS PubMed PubMed Central Google Scholar
Brady ST (1985) A novel brain ATPase with properties expected for the fast axonal transport motor. Nature 317:73–75. https://doi.org/10.1038/317073a0 Article CAS PubMed Google Scholar
Brenner D, Sieverding K, Bruno C et al (2019) Heterozygous Tbk1 loss has opposing effects in early and late stages of ALS in mice. J Exp Med 216:267–278. https://doi.org/10.1084/jem.20180729 Article CAS PubMed PubMed Central Google Scholar
Brenner D, Yilmaz R, Müller K et al (2018) Hot-spot KIF5A mutations cause familial ALS. Brain 141:688–697. https://doi.org/10.1093/brain/awx370 Article PubMed PubMed Central Google Scholar
Brown J, Ashworth A, Gydesen S et al (1995) Familial non-specific dementia maps to chromosome 3. Hum Mol Genet 4:1625–1628. https://doi.org/10.1093/hmg/4.9.1625 Article CAS PubMed Google Scholar
Buchan JR, Kolaitis R-M, Taylor JP, Parker R (2013) Eukaryotic stress granules are cleared by autophagy and Cdc48/VCP function. Cell 153:1461–1474. https://doi.org/10.1016/j.cell.2013.05.037 Article CAS PubMed PubMed Central Google Scholar
Cai H, Lin X, Xie C et al (2005) Loss of ALS2 function is insufficient to trigger motor neuron degeneration in knock-out mice but predisposes neurons to oxidative stress. J Neurosci 25:7567 LP – 7574. https://doi.org/10.1523/JNEUROSCI.1645-05.2005
Cai Q, Ganesan D (2022) Regulation of neuronal autophagy and the implications in neurodegenerative diseases. Neurobiol Dis 162:105582. https://doi.org/10.1016/j.nbd.2021.105582 Article CAS PubMed Google Scholar
Carra S, Seguin SJ, Landry J (2008) HspB8 and Bag3: a new chaperone complex targeting misfolded proteins to macroautophagy. Autophagy 4:237–239. https://doi.org/10.4161/auto.5407 Article CAS PubMed Google Scholar
Cassel JA, Reitz AB (2013) Ubiquilin-2 (UBQLN2) binds with high affinity to the C-terminal region of TDP-43 and modulates TDP-43 levels in H4 cells: characterization of inhibition by nucleic acids and 4-aminoquinolines. Biochim Biophys Acta 1834:964–971. https://doi.org/10.1016/j.bbapap.2013.03.020 Article CAS PubMed PubMed Central Google Scholar
Castillo K, Nassif M, Valenzuela V et al (2013) Trehalose delays the progression of amyotrophic lateral sclerosis by enhancing autophagy in motoneurons. Autophagy 9:1308–1320. https://doi.org/10.4161/auto.25188 Article CAS PubMed Google Scholar
Chalasani MLS, Kumari A, Radha V, Swarup G (2014) E50K-OPTN-induced retinal cell death involves the Rab GTPase-activating protein, TBC1D17 mediated block in autophagy. PLoS ONE 9:e95758. https://doi.org/10.1371/journal.pone.0095758 Article CAS PubMed PubMed Central Google Scholar
Chandran J, Ding J, Cai H (2007) Alsin and the molecular pathways of amyotrophic lateral sclerosis. Mol Neurobiol 36:224–231. https://doi.org/10.1007/s12035-007-0034-x Article CAS PubMed PubMed Central Google Scholar
Chang L, Monteiro MJ (2015) Defective proteasome delivery of polyubiquitinated proteins by ubiquilin-2 proteins containing ALS mutations. PLoS ONE 10:e0130162. https://doi.org/10.1371/journal.pone.0130162 Article CAS PubMed PubMed Central Google Scholar
Chang Y-C, Hung W-T, Chang Y-C et al (2011) Pathogenic VCP/TER94 alleles are dominant actives and contribute to neurodegeneration by altering cellular ATP level in a drosophila IBMPFD model. PLoS Genet 7:e1001288. https://doi.org/10.1371/journal.pgen.1001288 Article CAS PubMed PubMed Central Google Scholar
Chen H-J, Anagnostou G, Chai A et al (2010) Characterization of the properties of a novel mutation in VAPB in familial amyotrophic lateral sclerosis. J Biol Chem 285:40266–40281. https://doi.org/10.1074/jbc.M110.161398 Article CAS PubMed PubMed Central Google Scholar
Chen T, Huang B, Shi X et al (2018) Mutant UBQLN2P497H in motor neurons leads to ALS-like phenotypes and defective autophagy in rats. Acta Neuropathol Commun 6:122. https://doi.org/10.1186/s40478-018-0627-9 Article CAS PubMed PubMed Central Google Scholar
Chen Y, Zheng Z-Z, Chen X et al (2014) SQSTM1 mutations in Han Chinese populations with sporadic amyotrophic lateral sclerosis. Neurobiol Aging 35:726.e7–9. https://doi.org/10.1016/j.neurobiolaging.2013.09.008 Article CAS Google Scholar
Chen Z, Lin K, Macklis JD, Al-Chalabi A (2017) Proposed association between the hexanucleotide repeat of C9orf72 and opposability index of the thumb. Amyotroph Lateral Scler Frontotemporal Degener 18:175–181. https://doi.org/10.1080/21678421.2016.1257024 Article CAS PubMed Google Scholar
Chew J, Cook C, Gendron TF et al (2019) Aberrant deposition of stress granule-resident proteins linked to C9orf72-associated TDP-43 proteinopathy. Mol Neurodegener 14:9. https://doi.org/10.1186/s13024-019-0310-z Article CAS PubMed PubMed Central Google Scholar
Chia R, Chiò A, Traynor BJ (2018) Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications. The Lancet Neurology 17:94–102. https://doi.org/10.1016/S1474-4422(17)30401-5 Article CAS PubMed Google Scholar
Chitiprolu M, Jagow C, Tremblay V et al (2018) A complex of C9ORF72 and p62 uses arginine methylation to eliminate stress granules by autophagy. Nat Commun 9:2794. https://doi.org/10.1038/s41467-018-05273-7 Article CAS PubMed PubMed Central Google Scholar
Chou T-F, Bulfer SL, Weihl CC et al (2014) Specific inhibition of p97/VCP ATPase and kinetic analysis demonstrate interaction between D1 and D2 ATPase domains. J Mol Biol 426:2886–2899. https://doi.org/10.1016/j.jmb.2014.05.022 Article CAS PubMed PubMed Central Google Scholar
Chow CY, Landers JE, Bergren SK et al (2009) Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. Am J Hum Genet 84:85–88. https://doi.org/10.1016/j.ajhg.2008.12.010 Article CAS PubMed PubMed Central Google Scholar
Chow CY, Zhang Y, Dowling JJ et al (2007) Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature 448:68–72. https://doi.org/10.1038/nature05876 Article CAS PubMed PubMed Central Google Scholar
Cicardi M, Cristofani R, Rusmini P et al (2018) Tdp-25 routing to autophagy and proteasome ameliorates its aggregation in amyotrophic lateral sclerosis target cells. Sci Rep. https://doi.org/10.1038/s41598-018-29658-2 Article PubMed PubMed Central Google Scholar
Cicchini M, Karantza V, Xia B (2015) Molecular pathways: autophagy in cancer—a matter of timing and context. Clin Cancer Res 21:498–504. https://doi.org/10.1158/1078-0432.CCR-13-2438 Article CAS PubMed Google Scholar
Cirulli ET, Lasseigne BN, Petrovski S et al (2015) Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science 347:1436–1441. https://doi.org/10.1126/science.aaa3650 Article CAS PubMed PubMed Central Google Scholar
Clark JA, Yeaman EJ, Blizzard CA et al (2016) A case for microtubule vulnerability in amyotrophic lateral sclerosis: altered dynamics during disease. Front Cell Neurosci 10:204. https://doi.org/10.3389/fncel.2016.00204 Article CAS PubMed PubMed Central Google Scholar
Conlon EG, Lu L, Sharma A et al (2016) The C9ORF72 GGGGCC expansion forms RNA G-quadruplex inclusions and sequesters hnRNP H to disrupt splicing in ALS brains. Elife. https://doi.org/10.7554/eLife.17820 Article PubMed PubMed Central Google Scholar
Cook CN, Wu Y, Odeh HM et al (2020) C9orf72 poly(GR) aggregation induces TDP-43 proteinopathy. Science Translational Medicine. https://doi.org/10.1126/scitranslmed.abb3774 Article PubMed PubMed Central Google Scholar
Cox LE, Ferraiuolo L, Goodall EF et al (2010) Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS). PLoS ONE 5:e9872. https://doi.org/10.1371/journal.pone.0009872 Article CAS PubMed PubMed Central Google Scholar
Crimella C, Baschirotto C, Arnoldi A et al (2012) Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2. Clin Genet 82:157–164. https://doi.org/10.1111/j.1399-0004.2011.01717.x Article CAS PubMed Google Scholar
Cristofani R, Crippa V, Cicardi ME et al (2020) A crucial role for the protein quality control system in motor neuron diseases. Frontiers in Aging Neuroscience. https://doi.org/10.3389/fnagi.2020.00191 Article PubMed PubMed Central Google Scholar
Cuervo AM, Wong E (2014) Chaperone-mediated autophagy: roles in disease and aging. Cell Res 24:92–104. https://doi.org/10.1038/cr.2013.153 Article CAS PubMed Google Scholar
Culver-Hanlon TL, Lex SA, Stephens AD et al (2006) A microtubule-binding domain in dynactin increases dynein processivity by skating along microtubules. Nat Cell Biol 8:264–270. https://doi.org/10.1038/ncb1370 Article CAS PubMed Google Scholar
Dai RM, Chen E, Longo DL et al (1998) Involvement of valosin-containing protein, an ATPase co-purified with IκBalpha and 26 S proteasome, in ubiquitin-proteasome-mediated degradation of IkBalpha. J Biol Chem 273:3562–3573. https://doi.org/10.1074/jbc.273.6.3562 Article CAS PubMed Google Scholar
Daroszewska A, van ’t Hof RJ, Rojas JA, et al (2011) A point mutation in the ubiquitin-associated domain of SQSMT1 is sufficient to cause a Paget’s disease-like disorder in mice. Hum Mol Genet 20:2734–2744. https://doi.org/10.1093/hmg/ddr172 Article CAS PubMed Google Scholar
de Majo M, Topp SD, Smith BN et al (2018) ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function. Neurobiol Aging 71:266.e1-266.e10. https://doi.org/10.1016/j.neurobiolaging.2018.06.015 Article CAS Google Scholar
De Marco N, Buono M, Troise F, Diez-Roux G (2006) Optineurin increases cell survival and translocates to the nucleus in a Rab8-dependent manner upon an apoptotic stimulus. J Biol Chem 281:16147–16156. https://doi.org/10.1074/jbc.M601467200 Article CAS PubMed Google Scholar
De Vos KJ, Mórotz GM, Stoica R et al (2012) VAPB interacts with the mitochondrial protein PTPIP51 to regulate calcium homeostasis. Hum Mol Genet 21:1299–1311. https://doi.org/10.1093/hmg/ddr559 Article CAS PubMed Google Scholar
DeJesus-Hernandez M, Mackenzie IR, Boeve BF et al (2011) Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72:245–256. https://doi.org/10.1016/j.neuron.2011.09.011 Article CAS PubMed PubMed Central Google Scholar
Del Bo R, Tiloca C, Pensato V et al (2011) Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 82:1239–1243. https://doi.org/10.1136/jnnp.2011.242313 Article PubMed Google Scholar
Deng H-X, Chen W, Hong S-T et al (2011) Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature 477:211–215. https://doi.org/10.1038/nature10353 Article CAS PubMed PubMed Central Google Scholar
Deshimaru M, Kinoshita-Kawada M, Kubota K et al (2021) DCTN1 binds to TDP-43 and regulates TDP-43 aggregation. Int J Mol Sci. https://doi.org/10.3390/ijms22083985 Article PubMed PubMed Central Google Scholar
Devon RS, Orban PC, Gerrow K, et al (2006) Als2-deficient mice exhibit disturbances in endosome trafficking associated with motor behavioral abnormalities. Proc Natl Acad Sci USA 103:9595 LP – 9600. https://doi.org/10.1073/pnas.0510197103
Di L, Chen H, Da Y et al (2016) Atypical familial amyotrophic lateral sclerosis with initial symptoms of pain or tremor in a Chinese family harboring VAPB-P56S mutation. J Neurol 263:263–268. https://doi.org/10.1007/s00415-015-7965-3 Article CAS PubMed Google Scholar
Di Paolo G, De Camilli P (2006) Phosphoinositides in cell regulation and membrane dynamics. Nature 443:651–657. https://doi.org/10.1038/nature05185 Article CAS PubMed Google Scholar
Dixit R, Levy JR, Tokito M et al (2008) Regulation of dynactin through the differential expression of p150Glued isoforms. J Biol Chem 283:33611–33619. https://doi.org/10.1074/jbc.M804840200 Article CAS PubMed PubMed Central Google Scholar
Dobrowolny G, Aucello M, Molinaro M, Musarò A (2008) Local expression of mIgf-1 modulates ubiquitin, caspase and CDK5 expression in skeletal muscle of an ALS mouse model. Neurol Res 30:131–136. https://doi.org/10.1179/174313208X281235 Article CAS PubMed Google Scholar
Dols-Icardo O, Iborra O, Valdivia J et al (2016) Assessing the role of TUBA4A gene in frontotemporal degeneration. Neurobiol Aging 38:215.e13-215.e14. https://doi.org/10.1016/j.neurobiolaging.2015.10.030 Article CAS Google Scholar
Duan W, Guo M, Yi L, et al (2019) Deletion of Tbk1 disrupts autophagy and reproduces behavioral and locomotor symptoms of FTD-ALS in mice. Aging 11:2457–2476. https://doi.org/10.18632/aging.101936
Esanov R, Cabrera GT, Andrade NS et al (2017) A C9ORF72 BAC mouse model recapitulates key epigenetic perturbations of ALS/FTD. Mol Neurodegener 12:46. https://doi.org/10.1186/s13024-017-0185-9 Article CAS PubMed PubMed Central Google Scholar
Farg MA, Sundaramoorthy V, Sultana JM et al (2014) C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking. Hum Mol Genet 23:3579–3595. https://doi.org/10.1093/hmg/ddu068 Article CAS PubMed PubMed Central Google Scholar
Fasana E, Fossati M, Ruggiano A et al (2010) A VAPB mutant linked to amyotrophic lateral sclerosis generates a novel form of organized smooth endoplasmic reticulum. FASEB J 24:1419–1430. https://doi.org/10.1096/fj.09-147850 Article CAS PubMed Google Scholar
Fecto F, Siddique T (2011) Making connections: pathology and genetics link amyotrophic lateral sclerosis with frontotemporal lobe dementia. J Mol Neurosci 45:663–675. https://doi.org/10.1007/s12031-011-9637-9 Article CAS PubMed Google Scholar
Ferguson CJ, Lenk GM, Jones JM et al (2012) Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration. Hum Mol Genet 21:3525–3534. https://doi.org/10.1093/hmg/dds179 Article CAS PubMed PubMed Central Google Scholar
Ferguson CJ, Lenk GM, Meisler MH (2009) Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2. Hum Mol Genet 18:4868–4878. https://doi.org/10.1093/hmg/ddp460 Article CAS PubMed PubMed Central Google Scholar
Ferrari V, Cristofani R, Tedesco B et al (2022) Valosin containing protein (VCP): a multistep regulator of autophagy. Int J Mole Sci 23
Fichera M, lo Giudice M, Falco M et al (2004) Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia. Neurology 63:1108–1110. https://doi.org/10.1212/01.wnl.0000138731.60693.d2 Article CAS PubMed Google Scholar
Filimonenko M, Stuffers S, Raiborg C et al (2007) Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative disease. J Cell Biol 179:485–500. https://doi.org/10.1083/jcb.200702115 Article CAS PubMed PubMed Central Google Scholar
Freibaum BD, Taylor JP (2017) The role of dipeptide repeats in C9ORF72-related ALS-FTD. Front Mol Neurosci. https://doi.org/10.3389/fnmol.2017.00035 Article PubMed PubMed Central Google Scholar
Freischmidt A, Wieland T, Richter B et al (2015) Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia. Nat Neurosci 18:631–636. https://doi.org/10.1038/nn.4000 Article CAS PubMed Google Scholar
Funke AD, Esser M, Krüttgen A et al (2010) The p. P56S mutation in the VAPB gene is not due to a single founder: the first European case. Clin Genet 77:302–303Article CAS Google Scholar
Gal J, Ström A-L, Kwinter DM et al (2009) Sequestosome 1/p62 links familial ALS mutant SOD1 to LC3 via an ubiquitin-independent mechanism. J Neurochem 111:1062–1073. https://doi.org/10.1111/j.1471-4159.2009.06388.x Article CAS PubMed PubMed Central Google Scholar
Geetha T, Seibenhener ML, Chen L et al (2008) p62 serves as a shuttling factor for TrkA interaction with the proteasome. Biochem Biophys Res Commun 374:33–37. https://doi.org/10.1016/j.bbrc.2008.06.082 Article CAS PubMed PubMed Central Google Scholar
Gendron TF, Bieniek KF, Zhang Y-J et al (2013) Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS. Acta Neuropathol 126:829–844. https://doi.org/10.1007/s00401-013-1192-8 Article CAS PubMed PubMed Central Google Scholar
Gerbino V, Kaunga E, Ye J et al (2020) The loss of TBK1 kinase activity in motor neurons or in all cell types differentially impacts ALS disease progression in SOD1 mice. Neuron 106:789-805.e5. https://doi.org/10.1016/j.neuron.2020.03.005 Article CAS PubMed Google Scholar
Ghazi-Noori S, Froud KE, Mizielinska S et al (2012) Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice. Brain 135:819–832. https://doi.org/10.1093/brain/aws006 Article PubMed Google Scholar
Gijselinck I, van Mossevelde S, van der Zee J et al (2016) The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter. Mol Psychiatry 21:1112–1124. https://doi.org/10.1038/mp.2015.159 Article CAS PubMed Google Scholar
Gijselinck I, Van Mossevelde S, van der Zee J et al (2015) Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort. Neurology 85:2116–2125. https://doi.org/10.1212/WNL.0000000000002220 Article CAS PubMed PubMed Central Google Scholar
Gleason CE, Ordureau A, Gourlay R et al (2011) Polyubiquitin binding to optineurin is required for optimal activation of TANK-binding kinase 1 and production of interferon β. J Biol Chem 286:35663–35674. https://doi.org/10.1074/jbc.M111.267567 Article CAS PubMed PubMed Central Google Scholar
Gomez-Suaga P, Paillusson S, Stoica R et al (2017) The ER-mitochondria tethering complex VAPB-PTPIP51 regulates autophagy. Curr Biol 27:371–385. https://doi.org/10.1016/j.cub.2016.12.038 Article CAS PubMed PubMed Central Google Scholar
Goode A, Butler K, Long J et al (2016) Defective recognition of LC3B by mutant SQSTM1/p62 implicates impairment of autophagy as a pathogenic mechanism in ALS-FTLD. Autophagy 12:1094–1104. https://doi.org/10.1080/15548627.2016.1170257 Article CAS PubMed PubMed Central Google Scholar
Gorrie GH, Fecto F, Radzicki D et al (2014) Dendritic spinopathy in transgenic mice expressing ALS/dementia-linked mutant UBQLN2 . Proc Natl Acad Sci 111:14524–14529. https://doi.org/10.1073/pnas.1405741111 Article CAS PubMed PubMed Central Google Scholar
Gotkine M, de Majo M, Wong CH et al (2021) A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay. Neurobiol Aging 106:351.e1-351.e6. https://doi.org/10.1016/j.neurobiolaging.2021.05.009 Article CAS Google Scholar
Guber RD, Schindler AB, Budron MS et al (2018) Nucleocytoplasmic transport defect in a North American patient with ALS8. Ann Clin Transl Neurol 5:369–375. https://doi.org/10.1002/acn3.515 Article CAS PubMed PubMed Central Google Scholar
Gydesen S, Brown JM, Brun A et al (2002) Chromosome 3 linked frontotemporal dementia (FTD-3). Neurology 59:1585–1594. https://doi.org/10.1212/01.wnl.0000034763.54161.1f Article CAS PubMed Google Scholar
Hadano S, Benn SC, Kakuta S et al (2006) Mice deficient in the Rab5 guanine nucleotide exchange factor ALS2/alsin exhibit age-dependent neurological deficits and altered endosome trafficking. Hum Mol Genet 15:233–250. https://doi.org/10.1093/hmg/ddi440 Article CAS PubMed Google Scholar
Hadano S, Hand CK, Osuga H et al (2001) A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet 29:166–173. https://doi.org/10.1038/ng1001-166 Article CAS PubMed Google Scholar
Hadano S, Mitsui S, Pan L et al (2016) Functional links between SQSTM1 and ALS2 in the pathogenesis of ALS: cumulative impact on the protection against mutant SOD1-mediated motor dysfunction in mice. Hum Mol Genet 25:3321–3340. https://doi.org/10.1093/hmg/ddw180 Article CAS PubMed Google Scholar
Hadano S, Otomo A, Kunita R et al (2010) Loss of ALS2/Alsin exacerbates motor dysfunction in a SOD1-expressing mouse ALS model by disturbing endolysosomal trafficking. PLoS ONE 5:e9805. https://doi.org/10.1371/journal.pone.0009805 Article CAS PubMed PubMed Central Google Scholar
Haeusler AR, Donnelly CJ, Periz G et al (2014) C9orf72 nucleotide repeat structures initiate molecular cascades of disease. Nature 507:195–200. https://doi.org/10.1038/nature13124 Article CAS PubMed PubMed Central Google Scholar
Han J-H, Ryu H-H, Jun M-H et al (2012) The functional analysis of the CHMP2B missense mutation associated with neurodegenerative diseases in the endo-lysosomal pathway. Biochem Biophys Res Commun 421:544–549. https://doi.org/10.1016/j.bbrc.2012.04.041 Article CAS PubMed Google Scholar
Hayes LR, Duan L, Bowen K et al (2020) C9orf72 arginine-rich dipeptide repeat proteins disrupt karyopherin-mediated nuclear import. Elife. https://doi.org/10.7554/eLife.51685 Article PubMed PubMed Central Google Scholar
Henne WM, Stenmark H, Emr SD (2013) Molecular mechanisms of the membrane sculpting ESCRT pathway. Cold Spring Harb Perspect Biol. https://doi.org/10.1101/cshperspect.a016766 Article PubMed PubMed Central Google Scholar
Heo J-M, Ordureau A, Paulo JA et al (2015) The PINK1-PARKIN mitochondrial ubiquitylation pathway drives a program of OPTN/NDP52 recruitment and TBK1 Activation to Promote Mitophagy. Mol Cell 60:7–20. https://doi.org/10.1016/j.molcel.2015.08.016 Article CAS PubMed PubMed Central Google Scholar
Hersheson J, Mencacci NE, Davis M et al (2013) Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. Ann Neurol 73:546–553. https://doi.org/10.1002/ana.23832 Article CAS PubMed PubMed Central Google Scholar
Hill SM, Wrobel L, Ashkenazi A et al (2021) VCP/p97 regulates beclin-1-dependent autophagy initiation. Nat Chem Biol 17:448–455. https://doi.org/10.1038/s41589-020-00726-x Article CAS PubMed Google Scholar
Hirabayashi M, Inoue K, Tanaka K et al (2001) VCP/p97 in abnormal protein aggregates, cytoplasmic vacuoles, and cell death, phenotypes relevant to neurodegeneration. Cell Death Differ 8:977–984. https://doi.org/10.1038/sj.cdd.4400907 Article CAS PubMed Google Scholar
Hirano M, Nakamura Y, Saigoh K et al (2013) Mutations in the gene encoding p62 in Japanese patients with amyotrophic lateral sclerosis. Neurology 80:458–463. https://doi.org/10.1212/WNL.0b013e31827f0fe5 Article CAS PubMed Google Scholar
Hirokawa N, Noda Y (2008) Intracellular transport and kinesin superfamily proteins, KIFs: structure, function, and dynamics. Physiol Rev 88:1089–1118. https://doi.org/10.1152/physrev.00023.2007 Article CAS PubMed Google Scholar
Hollenbeck PJ (2014) Directing traffic and autophagy in axonal transport. Dev Cell 29:505–506. https://doi.org/10.1016/j.devcel.2014.05.016 Article CAS PubMed PubMed Central Google Scholar
Hortobágyi T, Troakes C, Nishimura AL et al (2011) Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders. Acta Neuropathol 121:519–527. https://doi.org/10.1007/s00401-011-0813-3 Article CAS PubMed Google Scholar
Howes SC, Alushin GM, Shida T et al (2014) Effects of tubulin acetylation and tubulin acetyltransferase binding on microtubule structure. Mol Biol Cell 25:257–266. https://doi.org/10.1091/mbc.E13-07-0387 Article CAS PubMed PubMed Central Google Scholar
Hua R, Cheng D, Coyaud É et al (2017) VAPs and ACBD5 tether peroxisomes to the ER for peroxisome maintenance and lipid homeostasis. J Cell Biol 216:367–377. https://doi.org/10.1083/jcb.201608128 Article CAS PubMed PubMed Central Google Scholar
Hurley JH, Hanson PI (2010) Membrane budding and scission by the ESCRT machinery: it’s all in the neck. Nat Rev Mol Cell Biol 11:556–566. https://doi.org/10.1038/nrm2937 Article CAS PubMed PubMed Central Google Scholar
Huyton T, Pye VE, Briggs LC et al (2003) The crystal structure of murine p97/VCP at 3.6A. J Struct Biol 144:337–348. https://doi.org/10.1016/j.jsb.2003.10.007 Article CAS PubMed Google Scholar
Hyttinen JMT, Niittykoski M, Salminen A, Kaarniranta K (2013) Maturation of autophagosomes and endosomes: a key role for Rab7. Biochimica et Biophysica Acta (BBA) - Mole Cell Res 1833:503–510. https://doi.org/10.1016/j.bbamcr.2012.11.018
Ichimura Y, Kumanomidou T, Sou Y et al (2008) Structural basis for sorting mechanism of p62 in selective autophagy. J Biol Chem 283:22847–22857. https://doi.org/10.1074/jbc.M802182200 Article PubMed Google Scholar
Iguchi Y, Eid L, Parent M et al (2016) Exosome secretion is a key pathway for clearance of pathological TDP-43. Brain 139:3187–3201. https://doi.org/10.1093/brain/aww237 Article PubMed PubMed Central Google Scholar
Iida A, Hosono N, Sano M et al (2012) Novel deletion mutations of OPTN in amyotrophic lateral sclerosis in Japanese. Neurobiol Aging 33:1843.e19–24. https://doi.org/10.1016/j.neurobiolaging.2011.12.037 Article CAS Google Scholar
Ikenaka K, Kawai K, Katsuno M et al (2013) dnc-1/dynactin 1 knockdown disrupts transport of autophagosomes and induces motor neuron degeneration. PLoS ONE 8:e54511. https://doi.org/10.1371/journal.pone.0054511 Article CAS PubMed PubMed Central Google Scholar
Itakura E, Mizushima N (2010) Characterization of autophagosome formation site by a hierarchical analysis of mammalian Atg proteins. Autophagy 6:764–776. https://doi.org/10.4161/auto.6.6.12709 Article CAS PubMed PubMed Central Google Scholar
Iwata A, Riley BE, Johnston JA, Kopito RR (2005) HDAC6 and microtubules are required for autophagic degradation of aggregated huntingtin. J Biol Chem 280:40282–40292. https://doi.org/10.1074/jbc.M508786200 Article CAS PubMed Google Scholar
Iyer S, Subramanian V, Acharya KR (2018) C9orf72, a protein associated with amyotrophic lateral sclerosis (ALS) is a guanine nucleotide exchange factor. PeerJ 6:e5815. https://doi.org/10.7717/peerj.5815 Article CAS PubMed PubMed Central Google Scholar
Ji YJ, Ugolino J, Brady NR et al (2017) Systemic deregulation of autophagy upon loss of ALS- and FTD-linked C9orf72. Autophagy 13:1254–1255. https://doi.org/10.1080/15548627.2017.1299312 Article CAS PubMed PubMed Central Google Scholar
Jiang J, Zhu Q, Gendron TF et al (2016) Gain of toxicity from ALS/FTD-linked repeat expansions in C9ORF72 is alleviated by antisense oligonucleotides targeting GGGGCC-containing RNAs. Neuron 90:535–550. https://doi.org/10.1016/j.neuron.2016.04.006 Article CAS PubMed PubMed Central Google Scholar
Jiang Y-M, Yamamoto M, Kobayashi Y et al (2005) Gene expression profile of spinal motor neurons in sporadic amyotrophic lateral sclerosis. Ann Neurol 57:236–251. https://doi.org/10.1002/ana.20379 Article CAS PubMed Google Scholar
Jiang Y-M, Yamamoto M, Tanaka F et al (2007) Gene expressions specifically detected in motor neurons (dynactin 1, early growth response 3, acetyl-CoA transporter, death receptor 5, and cyclin C) differentially correlate to pathologic markers in sporadic amyotrophic lateral sclerosis. J Neuropathol Exp Neurol 66:617–627. https://doi.org/10.1097/nen.0b013e318093ece3 Article CAS PubMed Google Scholar
Jin N, Chow CY, Liu L et al (2008) VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P(2) in yeast and mouse. EMBO J 27:3221–3234. https://doi.org/10.1038/emboj.2008.248 Article CAS PubMed PubMed Central Google Scholar
Johansen T, Lamark T (2011) Selective autophagy mediated by autophagic adapter proteins. Autophagy 7:279–296. https://doi.org/10.4161/auto.7.3.14487 Article CAS PubMed PubMed Central Google Scholar
Johnson AE, Shu H, Hauswirth AG et al (2015) VCP-dependent muscle degeneration is linked to defects in a dynamic tubular lysosomal network in vivo. Elife. https://doi.org/10.7554/eLife.07366 Article PubMed PubMed Central Google Scholar
Johnson JO, Mandrioli J, Benatar M et al (2010) Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 68:857–864. https://doi.org/10.1016/j.neuron.2010.11.036 Article CAS PubMed PubMed Central Google Scholar
Ju J-S, Fuentealba RA, Miller SE et al (2009) Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease. J Cell Biol 187:875–888. https://doi.org/10.1083/jcb.200908115 Article PubMed PubMed Central Google Scholar
Kabashi E, El Oussini H, Bercier V et al (2013) Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis. Hum Mol Genet 22:2350–2360. https://doi.org/10.1093/hmg/ddt080 Article CAS PubMed Google Scholar
Kaiser SE, Brickner JH, Reilein AR et al (2005) Structural basis of FFAT motif-mediated ER targeting. Structure 13:1035–1045. https://doi.org/10.1016/j.str.2005.04.010 Article CAS PubMed Google Scholar
Kanekura K, Hashimoto Y, Kita Y et al (2005) A Rac1/phosphatidylinositol 3-kinase/Akt3 anti-apoptotic pathway, triggered by AlsinLF, the product of the ALS2 gene, antagonizes Cu/Zn-superoxide dismutase (SOD1) mutant-induced motoneuronal cell death. J Biol Chem 280:4532–4543. https://doi.org/10.1074/jbc.M410508200 Article CAS PubMed Google Scholar
Kanekura K, Hashimoto Y, Niikura T et al (2004) Alsin, the product of ALS2 gene, suppresses SOD1 mutant neurotoxicity through RhoGEF domain by interacting with SOD1 mutants. J Biol Chem 279:19247–19256. https://doi.org/10.1074/jbc.M313236200 Article CAS PubMed Google Scholar
Kanekura K, Nishimoto I, Aiso S, Matsuoka M (2006) Characterization of amyotrophic lateral sclerosis-linked P56S mutation of vesicle-associated membrane protein-associated protein B (VAPB/ALS8). J Biol Chem 281:30223–30233. https://doi.org/10.1074/jbc.M605049200 Article CAS PubMed Google Scholar
Karki S, Holzbaur ELF (1999) Cytoplasmic dynein and dynactin in cell division and intracellular transport. Curr Opin Cell Biol 11:45–53. https://doi.org/10.1016/S0955-0674(99)80006-4
Karki S, Holzbaur ELF (1995) Affinity chromatography demonstrates a direct binding between cytoplasmic dynein and the dynactin complex. J Biol Chem 270:28806–28811. https://doi.org/10.1074/jbc.270.48.28806 Article CAS PubMed Google Scholar
Kaushik S, Cuervo AM (2018) The coming of age of chaperone-mediated autophagy. Nat Rev Mol Cell Biol 19:365–381. https://doi.org/10.1038/s41580-018-0001-6 Article CAS PubMed PubMed Central Google Scholar
Kaye FJ, Modi S, Ivanovska I et al (2000) A family of ubiquitin-like proteins binds the ATPase domain of Hsp70-like Stch. FEBS Lett 467:348–355. https://doi.org/10.1016/s0014-5793(00)01135-2 Article CAS PubMed Google Scholar
Kaye FJ, Shows TB (2000) Assignment of ubiquilin2 (UBQLN2) to human chromosome xp11. 23–>p11.1 by GeneBridge radiation hybrids. Cytogenet Cell Genet 89:116–117. https://doi.org/10.1159/000015588 Article CAS PubMed Google Scholar
Keller BA, Volkening K, Droppelmann CA et al (2012) Co-aggregation of RNA binding proteins in ALS spinal motor neurons: evidence of a common pathogenic mechanism. Acta Neuropathol 124:733–747. https://doi.org/10.1007/s00401-012-1035-z Article CAS PubMed Google Scholar
Kenna KP, McLaughlin RL, Byrne S et al (2013) Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing. J Med Genet 50:776–783. https://doi.org/10.1136/jmedgenet-2013-101795 Article CAS PubMed Google Scholar
Kiernan MC, Vucic S, Cheah BC et al (2011) Amyotrophic lateral sclerosis. The Lancet 377:942–955. https://doi.org/10.1016/S0140-6736(10)61156-7 Article CAS Google Scholar
Kimonis VE, Watts GDJ (2005) Autosomal dominant inclusion body myopathy, Paget disease of bone, and frontotemporal dementia. Alzheimer Dis Assoc Disord 19(Suppl 1):S44–S47. https://doi.org/10.1097/01.wad.0000183081.76820.5a Article PubMed Google Scholar
King A, Al-Sarraj S, Troakes C et al (2013) Mixed tau, TDP-43 and p62 pathology in FTLD associated with a C9ORF72 repeat expansion and p.Ala239Thr MAPT (tau) variant. Acta Neuropathol 125:303–310. https://doi.org/10.1007/s00401-012-1050-0 Article CAS PubMed Google Scholar
Klionsky DJ, Abdel-Aziz AK, Abdelfatah S et al (2021a) Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)(1). Autophagy 17:1–382. https://doi.org/10.1080/15548627.2020.1797280 Article PubMed PubMed Central Google Scholar
Klionsky DJ, Petroni G, Amaravadi RK et al (2021b) Autophagy in major human diseases. EMBO J 40. https://doi.org/10.15252/embj.2021b108863
Ko HS, Uehara T, Tsuruma K, Nomura Y (2004) Ubiquilin interacts with ubiquitylated proteins and proteasome through its ubiquitin-associated and ubiquitin-like domains. FEBS Lett 566:110–114. https://doi.org/10.1016/j.febslet.2004.04.031 Article CAS PubMed Google Scholar
Koller KJ, Brownstein MJ (1987) Use of a cDNA clone to identify a supposed precursor protein containing valosin. Nature 325:542–545. https://doi.org/10.1038/325542a0 Article CAS PubMed Google Scholar
Komatsu M, Waguri S, Chiba T et al (2006) Loss of autophagy in the central nervous system causes neurodegeneration in mice. Nature 441:880–884. https://doi.org/10.1038/nature04723 Article CAS PubMed Google Scholar
Koppers M, Blokhuis AM, Westeneng H et al (2015) C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits. Ann Neurol 78:426–438. https://doi.org/10.1002/ana.24453 Article CAS PubMed PubMed Central Google Scholar
Korac J, Schaeffer V, Kovacevic I et al (2013) Ubiquitin-independent function of optineurin in autophagic clearance of protein aggregates. J Cell Sci 126:580–592. https://doi.org/10.1242/jcs.114926 Article CAS PubMed Google Scholar
Kraft C, Peter M, Hofmann K (2010) Selective autophagy: ubiquitin-mediated recognition and beyond. Nat Cell Biol 12:836–841. https://doi.org/10.1038/ncb0910-836 Article CAS PubMed Google Scholar
Krasniak CS, Ahmad ST (2016) The role of CHMP2B(Intron5) in autophagy and frontotemporal dementia. Brain Res 1649:151–157. https://doi.org/10.1016/j.brainres.2016.02.051 Article CAS PubMed PubMed Central Google Scholar
Kress JA, Kühnlein P, Winter P et al (2005) Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis. Annals Neurol 58:800–803. https://doi.org/10.1002/ana.20665
Kuijpers M, van Dis V, Haasdijk ED et al (2013a) Amyotrophic lateral sclerosis (ALS)-associated VAPB-P56S inclusions represent an ER quality control compartment. Acta Neuropathol Commun 1:24. https://doi.org/10.1186/2051-5960-1-24 Article PubMed PubMed Central Google Scholar
Kuijpers M, Lou YuK, Teuling E et al (2013b) The ALS8 protein VAPB interacts with the ER-Golgi recycling protein YIF1A and regulates membrane delivery into dendrites. EMBO J 32:2056–2072. https://doi.org/10.1038/emboj.2013.131 Article CAS PubMed PubMed Central Google Scholar
Kunita R, Otomo A, Mizumura H et al (2004) Homo-oligomerization of ALS2 through its unique carboxyl-terminal regions is essential for the ALS2-associated Rab5 guanine nucleotide exchange activity and its regulatory function on endosome trafficking. J Biol Chem 279:38626–38635. https://doi.org/10.1074/jbc.M406120200 Article CAS PubMed Google Scholar
Kuusisto E, Suuronen T, Salminen A (2001) Ubiquitin-binding protein p62 expression is induced during apoptosis and proteasomal inhibition in neuronal cells. Biochem Biophys Res Commun 280:223–228. https://doi.org/10.1006/bbrc.2000.4107 Article CAS PubMed Google Scholar
Kuźma-Kozakiewicz M, Chudy A, Kaźmierczak B et al (2013) Dynactin deficiency in the CNS of humans with sporadic ALS and mice with genetically determined motor neuron degeneration. Neurochem Res 38:2463–2473. https://doi.org/10.1007/s11064-013-1160-7 Article CAS PubMed Central Google Scholar
Kwok CT, Morris A, de Belleroche JS (2014) Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB. Eur J Hum Genet 22:492–496. https://doi.org/10.1038/ejhg.2013.184 Article CAS PubMed Google Scholar
Kyotani A, Azuma Y, Yamamoto I et al (2016) Knockdown of the Drosophila FIG4 induces deficient locomotive behavior, shortening of motor neuron, axonal targeting aberration, reduction of life span and defects in eye development. Exp Neurol 277:86–95. https://doi.org/10.1016/j.expneurol.2015.12.011 Article CAS PubMed Google Scholar
Lai C, Lin X, Chandran J et al (2007) The G59S mutation in p150(glued) causes dysfunction of dynactin in mice. J Neurosci 27:13982–13990. https://doi.org/10.1523/JNEUROSCI.4226-07.2007 Article CAS PubMed PubMed Central Google Scholar
Lai C, Xie C, Shim H et al (2009) Regulation of endosomal motility and degradation by amyotrophic lateral sclerosis 2/alsin. Mol Brain 2:23. https://doi.org/10.1186/1756-6606-2-23 Article CAS PubMed PubMed Central Google Scholar
Laird FM, Farah MH, Ackerley S et al (2008) Motor neuron disease occurring in a mutant dynactin mouse model is characterized by defects in vesicular trafficking. J Neurosci 28:1997–2005. https://doi.org/10.1523/JNEUROSCI.4231-07.2008 Article CAS PubMed PubMed Central Google Scholar
Larroquette F, Seto L, Gaub PL et al (2015) Vapb/Amyotrophic lateral sclerosis 8 knock-in mice display slowly progressive motor behavior defects accompanying ER stress and autophagic response. Hum Mol Genet 24:6515–6529. https://doi.org/10.1093/hmg/ddv360 Article CAS PubMed PubMed Central Google Scholar
Lattante S, de Calbiac H, Le Ber I et al (2015) Sqstm1 knock-down causes a locomotor phenotype ameliorated by rapamycin in a zebrafish model of ALS/FTLD. Hum Mol Genet 24:1682–1690. https://doi.org/10.1093/hmg/ddu580 Article CAS PubMed Google Scholar
Latterich M, Fröhlich K-U, Schekman R (1995) Membrane fusion and the cell cycle: Cdc48p participates in the fusion of ER membranes. Cell 82:885–893. https://doi.org/10.1016/0092-8674(95)90268-6 Article CAS PubMed Google Scholar
Laurin N, Brown JP, Morissette J, Raymond V (2002) Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone. Am J Hum Genet 70:1582–1588. https://doi.org/10.1086/340731 Article CAS PubMed PubMed Central Google Scholar
Lazarou M, Sliter DA, Kane LA et al (2015) The ubiquitin kinase PINK1 recruits autophagy receptors to induce mitophagy. Nature 524:309–314. https://doi.org/10.1038/nature14893 Article CAS PubMed PubMed Central Google Scholar
Le Ber I, Camuzat A, Guerreiro R et al (2013) SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. JAMA Neurol 70:1403–1410. https://doi.org/10.1001/jamaneurol.2013.3849 Article PubMed PubMed Central Google Scholar
Le Ber I, De Septenville A, Millecamps S et al (2015) TBK1 mutation frequencies in French frontotemporal dementia and amyotrophic lateral sclerosis cohorts. Neurobiol Aging 36:3116.e5–3116.e8. https://doi.org/10.1016/j.neurobiolaging.2015.08.009
Lee J-A, Beigneux A, Ahmad ST et al (2007) ESCRT-III dysfunction causes autophagosome accumulation and neurodegeneration. Curr Biol 17:1561–1567. https://doi.org/10.1016/j.cub.2007.07.029
Lenk GM, Ferguson CJ, Chow CY et al (2011) Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J. PLoS Genet 7:e1002104. https://doi.org/10.1371/journal.pgen.1002104 Article CAS PubMed PubMed Central Google Scholar
Levine TP, Daniels RD, Gatta AT et al (2013) The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs. Bioinformatics 29:499–503. https://doi.org/10.1093/bioinformatics/bts725 Article CAS PubMed PubMed Central Google Scholar
Levy JR, Sumner CJ, Caviston JP et al (2006) A motor neuron disease–associated mutation in p150Glued perturbs dynactin function and induces protein aggregation. J Cell Biol 172:733–745. https://doi.org/10.1083/jcb.200511068 Article CAS PubMed PubMed Central Google Scholar
Li F, Xu D, Wang Y et al (2018a) Structural insights into the ubiquitin recognition by OPTN (optineurin) and its regulation by TBK1-mediated phosphorylation. Autophagy 14:66–79. https://doi.org/10.1080/15548627.2017.1391970 Article CAS PubMed PubMed Central Google Scholar
Li J, He J, Tang L et al (2018b) Screening for TUBA4A mutations in a large Chinese cohort of patients with ALS: re-evaluating the pathogenesis of TUBA4A in ALS. J Neurol Neurosurg Psychiatry 89:1350–1352Article Google Scholar
Li K, Yang L, Zhang C et al (2014) HPS6 interacts with dynactin p150Glued to mediate retrograde trafficking and maturation of lysosomes. J Cell Sci 127:4574–4588. https://doi.org/10.1242/jcs.141978 Article CAS PubMed Google Scholar
Li W, Li J, Bao J (2012) Microautophagy: lesser-known self-eating. Cell Mol Life Sci 69:1125–1136. https://doi.org/10.1007/s00018-011-0865-5 Article CAS PubMed Google Scholar
Lin BC, Higgins NR, Phung TH, Monteiro MJ (2021) UBQLN proteins in health and disease with a focus on UBQLN2 in ALS/FTD. FEBS J. https://doi.org/10.1111/febs.16129 Article PubMed PubMed Central Google Scholar
Liu M, Pi H, Xi Y et al (2021) KIF5A-dependent axonal transport deficiency disrupts autophagic flux in trimethyltin chloride-induced neurotoxicity. Autophagy 17:903–924. https://doi.org/10.1080/15548627.2020.1739444 Article CAS PubMed Google Scholar
Liu X, Yang L, Tang L et al (2017) DCTN1 gene analysis in Chinese patients with sporadic amyotrophic lateral sclerosis. PLoS ONE 12:e0182572. https://doi.org/10.1371/journal.pone.0182572 Article CAS PubMed PubMed Central Google Scholar
Liu Z-J, Li H-F, Tan G-H et al (2014) Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment system. Neurobiol Aging 35:2881.e11-2881.e15. https://doi.org/10.1016/j.neurobiolaging.2014.07.003 Article CAS Google Scholar
Lobsiger CS, Boillee S, McAlonis-Downes M et al (2009) Schwann cells expressing dismutase active mutant SOD1 unexpectedly slow disease progression in ALS mice. Proc Natl Acad Sci 106:4465–4470. https://doi.org/10.1073/pnas.0813339106 Article PubMed PubMed Central Google Scholar
Loewen CJR, Roy A, Levine TP (2003) A conserved ER targeting motif in three families of lipid binding proteins and in Opi1p binds VAP. EMBO J 22:2025–2035. https://doi.org/10.1093/emboj/cdg201 Article CAS PubMed PubMed Central Google Scholar
Madeo F, Schlauer J, Zischka H et al (1998) Tyrosine phosphorylation regulates cell cycle-dependent nuclear localization of Cdc48p. Mol Biol Cell 9:131–141. https://doi.org/10.1091/mbc.9.1.131 Article CAS PubMed PubMed Central Google Scholar
Maharjan N, Künzli C, Buthey K, Saxena S (2017) C9ORF72 regulates stress granule formation and its deficiency impairs stress granule assembly, hypersensitizing cells to stress. Mol Neurobiol 54:3062–3077. https://doi.org/10.1007/s12035-016-9850-1 Article CAS PubMed Google Scholar
Mandrioli J, Crippa V, Cereda C et al (2019) Proteostasis and ALS: protocol for a phase II, randomised, double-blind, placebo-controlled, multicentre clinical trial for colchicine in ALS (Co-ALS). BMJ Open 9:e028486. https://doi.org/10.1136/bmjopen-2018-028486 Article PubMed PubMed Central Google Scholar
Mandrioli J, D’Amico R, Zucchi E et al (2018) Rapamycin treatment for amyotrophic lateral sclerosis. Medicine 97:e11119. https://doi.org/10.1097/MD.0000000000011119 Article CAS PubMed PubMed Central Google Scholar
Mann DM, Rollinson S, Robinson A et al (2013) Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72. Acta Neuropathol Commun 1:68. https://doi.org/10.1186/2051-5960-1-68 Article PubMed PubMed Central Google Scholar
Markovinovic A, Cimbro R, Ljutic T et al (2017) Optineurin in amyotrophic lateral sclerosis: multifunctional adaptor protein at the crossroads of different neuroprotective mechanisms. Prog Neurobiol 154:1–20. https://doi.org/10.1016/j.pneurobio.2017.04.005 Article CAS PubMed Google Scholar
Maruyama H, Morino H, Ito H et al (2010) Mutations of optineurin in amyotrophic lateral sclerosis. Nature 465:223–226. https://doi.org/10.1038/nature08971 Article CAS PubMed Google Scholar
Matsunaga K, Morita E, Saitoh T et al (2010) Autophagy requires endoplasmic reticulum targeting of the PI3-kinase complex via Atg14L. J Cell Biol 190:511–521. https://doi.org/10.1083/jcb.200911141 Article CAS PubMed PubMed Central Google Scholar
Meerang M, Ritz D, Paliwal S et al (2011) The ubiquitin-selective segregase VCP/p97 orchestrates the response to DNA double-strand breaks. Nat Cell Biol 13:1376–1382. https://doi.org/10.1038/ncb2367 Article CAS PubMed Google Scholar
Mehta SG, Khare M, Ramani R et al (2013) Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia. Clin Genet 83:422–431. https://doi.org/10.1111/cge.12000 Article CAS PubMed Google Scholar
Meroni M, Crippa V, Cristofani R et al (2019) Transforming growth factor beta 1 signaling is altered in the spinal cord and muscle of amyotrophic lateral sclerosis mice and patients. Neurobiol Aging 82:48–59. https://doi.org/10.1016/j.neurobiolaging.2019.07.001 Article CAS PubMed Google Scholar
Miki H, Okada Y, Hirokawa N (2005) Analysis of the kinesin superfamily: insights into structure and function. Trends Cell Biol 15:467–476. https://doi.org/10.1016/j.tcb.2005.07.006 Article CAS PubMed Google Scholar
Minegishi Y, Nakayama M, Iejima D et al (2016) Significance of optineurin mutations in glaucoma and other diseases. Prog Retin Eye Res 55:149–181. https://doi.org/10.1016/j.preteyeres.2016.08.002 Article CAS PubMed Google Scholar
Mitne-Neto M, Machado-Costa M, Marchetto MCN et al (2011) Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients. Hum Mol Genet 20:3642–3652. https://doi.org/10.1093/hmg/ddr284 Article CAS PubMed PubMed Central Google Scholar
Mizuno Y, Amari M, Takatama M et al (2006) Immunoreactivities of p62, an ubiqutin-binding protein, in the spinal anterior horn cells of patients with amyotrophic lateral sclerosis. J Neurol Sci 249:13–18. https://doi.org/10.1016/j.jns.2006.05.060 Article CAS PubMed Google Scholar
Moore AS, Holzbaur ELF (2016) Dynamic recruitment and activation of ALS-associated TBK1 with its target optineurin are required for efficient mitophagy. Proc Natl Acad Sci U S A 113:E3349–E3358. https://doi.org/10.1073/pnas.1523810113 Article CAS PubMed PubMed Central Google Scholar
Morgan S, Orrell RW (2016) Pathogenesis of amyotrophic lateral sclerosis. Br Med Bull 119(1):87-98. https://doi.org/10.1093/bmb/ldw026
Morton S, Hesson L, Peggie M, Cohen P (2008) Enhanced binding of TBK1 by an optineurin mutant that causes a familial form of primary open angle glaucoma. FEBS Lett 582:997–1002. https://doi.org/10.1016/j.febslet.2008.02.047
Moustaqim-Barrette A, Lin YQ, Pradhan S et al (2014) The amyotrophic lateral sclerosis 8 protein, VAP, is required for ER protein quality control. Hum Mol Genet 23:1975–1989. https://doi.org/10.1093/hmg/ddt594 Article CAS PubMed Google Scholar
Münch C, Rosenbohm A, Sperfeld A-D et al (2005) Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD. Ann Neurol 58:777–780. https://doi.org/10.1002/ana.20631 Article CAS PubMed Google Scholar
Münch C, Sedlmeier R, Meyer T et al (2004) Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS. Neurol 63:724 LP – 726. https://doi.org/10.1212/01.WNL.0000134608.83927.B1
Munitic I, Giardino Torchia ML, Meena NP et al (2013) Optineurin insufficiency impairs IRF3 but not NF-κB activation in immune cells. J Immunol 191:6231–6240. https://doi.org/10.4049/jimmunol.1301696 Article CAS PubMed Google Scholar
Nalbandian A, Llewellyn KJ, Kitazawa M et al (2012) The homozygote VCPR155H/R155H mouse model exhibits accelerated human VCP-associated disease pathology. PLoS ONE 7:e46308. https://doi.org/10.1371/journal.pone.0046308 Article CAS PubMed PubMed Central Google Scholar
Narain P, Pandey A, Gupta S et al (2018) Targeted next-generation sequencing reveals novel and rare variants in Indian patients with amyotrophic lateral sclerosis. Neurobiol Aging 71:265.e9-265.e14. https://doi.org/10.1016/j.neurobiolaging.2018.05.012 Article CAS Google Scholar
N’Diaye E-N, Kajihara KK, Hsieh I et al (2009) PLIC proteins or ubiquilins regulate autophagy-dependent cell survival during nutrient starvation. EMBO Rep 10:173–179. https://doi.org/10.1038/embor.2008.238 Article PubMed PubMed Central Google Scholar
Neumann M, Sampathu DM, Kwong LK et al (2006) Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Sci 314:130 LP – 133. https://doi.org/10.1126/science.1134108
Nicolas A, Kenna KP, Renton AE et al (2018) Genome-wide analyses identify KIF5A as a novel ALS gene. Neuron 97:1268-1283.e6. https://doi.org/10.1016/j.neuron.2018.02.027 Article CAS PubMed PubMed Central Google Scholar
Nishimura AL, Mitne-Neto M, Silva HCA et al (2004) A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am J Hum Genet 75:822–831. https://doi.org/10.1086/425287 Article CAS PubMed PubMed Central Google Scholar
Niwa H, Ewens CA, Tsang C et al (2012) The role of the N-domain in the ATPase activity of the mammalian AAA ATPase p97/VCP. J Biol Chem 287:8561–8570. https://doi.org/10.1074/jbc.M111.302778 Article CAS PubMed PubMed Central Google Scholar
Oakes JA, Davies MC, Collins MO (2017) TBK1: a new player in ALS linking autophagy and neuroinflammation. Mol Brain 10:5. https://doi.org/10.1186/s13041-017-0287-x Article CAS PubMed PubMed Central Google Scholar
Odorizzi G, Babst M, Emr SD (1998) Fab1p PtdIns(3)P 5-kinase function essential for protein sorting in the multivesicular body. Cell 95:847–858. https://doi.org/10.1016/s0092-8674(00)81707-9 Article CAS PubMed Google Scholar
Onesto E, Rusmini P, Crippa V et al (2011) Muscle cells and motoneurons differentially remove mutant SOD1 causing familial amyotrophic lateral sclerosis. J Neurochem 118:266–280. https://doi.org/10.1111/j.1471-4159.2011.07298.x Article CAS PubMed PubMed Central Google Scholar
Osaka M, Ito D, Yagi T et al (2015) Evidence of a link between ubiquilin 2 and optineurin in amyotrophic lateral sclerosis. Hum Mol Genet 24:1617–1629. https://doi.org/10.1093/hmg/ddu575 Article CAS PubMed Google Scholar
Osawa T, Mizuno Y, Fujita Y et al (2011) Optineurin in neurodegenerative diseases. Neuropathology 31:569–574. https://doi.org/10.1111/j.1440-1789.2011.01199.x Article PubMed Google Scholar
Osmanovic A, Rangnau I, Kosfeld A et al (2017) FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study. Eur J Hum Genet 25:324–331. https://doi.org/10.1038/ejhg.2016.186 Article CAS PubMed PubMed Central Google Scholar
Otomo A, Hadano S, Okada T et al (2003) ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics. Hum Mol Genet 12:1671–1687. https://doi.org/10.1093/hmg/ddg184 Article CAS PubMed Google Scholar
Otomo A, Kunita R, Suzuki-Utsunomiya K et al (2011) Defective relocalization of ALS2/alsin missense mutants to Rac1-induced macropinosomes accounts for loss of their cellular function and leads to disturbed amphisome formation. FEBS Lett 585:730–736. https://doi.org/10.1016/j.febslet.2011.01.045
Otomo A, Pan L, Hadano S (2012) Dysregulation of the autophagy-endolysosomal system in amyotrophic lateral sclerosis and related motor neuron diseases. Neurol Res Int 2012:1–12. https://doi.org/10.1155/2012/498428 Article Google Scholar
Pankiv S, Clausen TH, Lamark T et al (2007) p62/SQSTM1 binds directly to Atg8/LC3 to facilitate degradation of ubiquitinated protein aggregates by autophagy. J Biol Chem 282:24131–24145. https://doi.org/10.1074/jbc.M702824200 Article CAS PubMed Google Scholar
Papadopoulos C, Kirchner P, Bug M et al (2017) VCP/p97 cooperates with YOD1, UBXD1 and PLAA to drive clearance of ruptured lysosomes by autophagy. EMBO J 36:135–150. https://doi.org/10.15252/embj.201695148
Papiani G, Ruggiano A, Fossati M et al (2012) Restructured endoplasmic reticulum generated by mutant amyotrophic lateral sclerosis-linked VAPB is cleared by the proteasome. J Cell Sci 125:3601–3611. https://doi.org/10.1242/jcs.102137 Article CAS PubMed Google Scholar
Parkinson N, Ince PG, Smith MO et al (2006) ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B). Neurology 67:1074–1077. https://doi.org/10.1212/01.wnl.0000231510.89311.8b Article CAS PubMed Google Scholar
Patel A, Lee HO, Jawerth L et al (2015) A liquid-to-solid phase transition of the ALS protein FUS accelerated by disease mutation. Cell 162:1066–1077. https://doi.org/10.1016/j.cell.2015.07.047 Article CAS PubMed Google Scholar
Pensato V, Tiloca C, Corrado L et al (2015) TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations. J Neurol 262:1376–1378Article Google Scholar
Perrone F, Nguyen HP, Van Mossevelde S et al (2017) Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients. Neurobiol Aging 51:177.e9-177.e16. https://doi.org/10.1016/j.neurobiolaging.2016.12.008 Article CAS Google Scholar
Philips T, Bento-Abreu A, Nonneman A et al (2013) Oligodendrocyte dysfunction in the pathogenesis of amyotrophic lateral sclerosis. Brain 136:471–482. https://doi.org/10.1093/brain/aws339 Article PubMed PubMed Central Google Scholar
Picher-Martel V, Dutta K, Phaneuf D et al (2015) Ubiquilin-2 drives NF-κB activity and cytosolic TDP-43 aggregation in neuronal cells. Mol Brain 8:71. https://doi.org/10.1186/s13041-015-0162-6 Article CAS PubMed PubMed Central Google Scholar
Pilli M, Arko-Mensah J, Ponpuak M et al (2012) TBK-1 promotes autophagy-mediated antimicrobial defense by controlling autophagosome maturation. Immunity 37:223–234. https://doi.org/10.1016/j.immuni.2012.04.015 Article CAS PubMed PubMed Central Google Scholar
Prinz WA, Toulmay A, Balla T (2020) The functional universe of membrane contact sites. Nat Rev Mol Cell Biol 21:7–24. https://doi.org/10.1038/s41580-019-0180-9 Article CAS PubMed Google Scholar
Puls I, Jonnakuty C, LaMonte BH et al (2003) Mutant dynactin in motor neuron disease. Nat Genet 33:455–456. https://doi.org/10.1038/ng1123 Article CAS PubMed Google Scholar
Puls I, Oh SJ, Sumner CJ et al (2005) Distal spinal and bulbar muscular atrophy caused by dynactin mutation. Ann Neurol 57:687–694. https://doi.org/10.1002/ana.20468 Article CAS PubMed PubMed Central Google Scholar
Qiu L, Qiao T, Beers M et al (2013) Widespread aggregation of mutant VAPB associated with ALS does not cause motor neuron degeneration or modulate mutant SOD1 aggregation and toxicity in mice. Mol Neurodegener 8:1. https://doi.org/10.1186/1750-1326-8-1 Article CAS PubMed PubMed Central Google Scholar
Rademakers R, van Blitterswijk M (2014) Excess of rare damaging TUBA4A variants suggests cytoskeletal defects in ALS. Neuron 84:241–243. https://doi.org/10.1016/j.neuron.2014.10.002 Article CAS PubMed Google Scholar
Radulovic M, Schink KO, Wenzel EM et al (2018) ESCRT-mediated lysosome repair precedes lysophagy and promotes cell survival. EMBO J 37:. https://doi.org/10.15252/embj.201899753
Ramanathan HN, Ye Y (2012) The p97 ATPase associates with EEA1 to regulate the size of early endosomes. Cell Res 22:346–359. https://doi.org/10.1038/cr.2011.80 Article CAS PubMed Google Scholar
Rea SL, Majcher V, Searle MS, Layfield R (2014) SQSTM1 mutations - bridging Paget disease of bone and ALS/FTLD. Exp Cell Res 325:27–37. https://doi.org/10.1016/j.yexcr.2014.01.020 Article CAS PubMed Google Scholar
Rea SL, Walsh JP, Layfield R et al (2013) New insights into the role of sequestosome 1/p62 mutant proteins in the pathogenesis of Paget’s disease of bone. Endocr Rev 34:501–524. https://doi.org/10.1210/er.2012-1034 Article CAS PubMed Google Scholar
Reddy K, Zamiri B, Stanley SYR et al (2013) The disease-associated r(GGGGCC) repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex Structures. J Biol Chem 288:9860–9866. https://doi.org/10.1074/jbc.C113.452532 Article CAS PubMed PubMed Central Google Scholar
Reid E, Kloos M, Ashley-Koch A et al (2002) A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). Am J Hum Genet 71:1189–1194. https://doi.org/10.1086/344210 Article CAS PubMed PubMed Central Google Scholar
Renaud L, Picher-Martel V, Codron P, Julien J-P (2019) Key role of UBQLN2 in pathogenesis of amyotrophic lateral sclerosis and frontotemporal dementia. Acta Neuropathol Commun 7:103. https://doi.org/10.1186/s40478-019-0758-7 Article CAS PubMed PubMed Central Google Scholar
Renton AE, Majounie E, Waite A et al (2011) A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72:257–268. https://doi.org/10.1016/j.neuron.2011.09.010 Article CAS PubMed PubMed Central Google Scholar
Rezaie T, Child A, Hitchings R et al (2002) Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science 295:1077–1079. https://doi.org/10.1126/science.1066901 Article CAS PubMed Google Scholar
Richter B, Sliter DA, Herhaus L et al (2016) Phosphorylation of OPTN by TBK1 enhances its binding to Ub chains and promotes selective autophagy of damaged mitochondria. Proc Natl Acad Sci U S A 113:4039–4044. https://doi.org/10.1073/pnas.1523926113 Article CAS PubMed PubMed Central Google Scholar
Ritson GP, Custer SK, Freibaum BD et al (2010) TDP-43 mediates degeneration in a novel Drosophila model of disease caused by mutations in VCP/p97. J Neurosci 30:7729–7739. https://doi.org/10.1523/JNEUROSCI.5894-09.2010 Article CAS PubMed PubMed Central Google Scholar
Robberecht W, Philips T (2013) The changing scene of amyotrophic lateral sclerosis. Nat Rev Neurosci 14:248–264. https://doi.org/10.1038/nrn3430 Article CAS PubMed Google Scholar
Rogov V, Dötsch V, Johansen T, Kirkin V (2014) Interactions between autophagy receptors and ubiquitin-like proteins form the molecular basis for selective autophagy. Mol Cell 53:167–178. https://doi.org/10.1016/j.molcel.2013.12.014 Article CAS PubMed Google Scholar
Roudier N, Lefebvre C, Legouis R (2005) CeVPS-27 is an endosomal protein required for the molting and the endocytic trafficking of the low-density lipoprotein receptor-related protein 1 in Caenorhabditis elegans. Traffic 6:695–705. https://doi.org/10.1111/j.1600-0854.2005.00309.x Article CAS PubMed Google Scholar
Rubino E, Rainero I, Chiò A et al (2012) SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Neurology 79:1556–1562. https://doi.org/10.1212/WNL.0b013e31826e25df Article PubMed PubMed Central Google Scholar
Rudge SA, Anderson DM, Emr SD (2004) Vacuole size control: regulation of PtdIns(3,5)P2 levels by the vacuole-associated Vac14-Fig4 complex, a PtdIns(3,5)P2-specific phosphatase. Mol Biol Cell 15:24–36. https://doi.org/10.1091/mbc.e03-05-0297 Article CAS PubMed PubMed Central Google Scholar
Rusten TE, Stenmark H (2009) How do ESCRT proteins control autophagy? J Cell Sci 122:2179–2183. https://doi.org/10.1242/jcs.050021 Article CAS PubMed Google Scholar
Rusten TE, Vaccari T, Lindmo K et al (2007) ESCRTs and Fab1 regulate distinct steps of autophagy. Curr Biol 17:1817–1825. https://doi.org/10.1016/j.cub.2007.09.032 Article CAS PubMed Google Scholar
Rustici G, Kolesnikov N, Brandizi M et al (2013) ArrayExpress update–trends in database growth and links to data analysis tools. Nucleic Acids Res 41:D987–D990. https://doi.org/10.1093/nar/gks1174 Article CAS PubMed Google Scholar
Rutherford AC, Traer C, Wassmer T et al (2006) The mammalian phosphatidylinositol 3-phosphate 5-kinase (PIKfyve) regulates endosome-to-TGN retrograde transport. J Cell Sci 119:3944–3957. https://doi.org/10.1242/jcs.03153 Article CAS PubMed Google Scholar
Rydzanicz M, Jagła M, Kosinska J et al (2017) KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy. Clin Genet 91:769–773. https://doi.org/10.1111/cge.12831 Article CAS PubMed Google Scholar
Ryzhakov G, Randow F (2007) SINTBAD, a novel component of innate antiviral immunity, shares a TBK1-binding domain with NAP1 and TANK. EMBO J 26:3180–3190. https://doi.org/10.1038/sj.emboj.7601743 Article CAS PubMed PubMed Central Google Scholar
Sanhueza M, Zechini L, Gillespie T, Pennetta G (2014) Gain-of-function mutations in the ALS8 causative gene VAPB have detrimental effects on neurons and muscles. Biol Open 3:59–71. https://doi.org/10.1242/bio.20137070 Article CAS PubMed Google Scholar
Sbrissa D, Ikonomov OC, Fu Z et al (2007) Core protein machinery for mammalian phosphatidylinositol 3,5-bisphosphate synthesis and turnover that regulates the progression of endosomal transport. Novel Sac phosphatase joins the ArPIKfyve-PIKfyve complex. J Biol Chem 282:23878–23891. https://doi.org/10.1074/jbc.M611678200 Article CAS PubMed Google Scholar
Schmidt O, Teis D (2012) The ESCRT machinery. Curr Biol 22:R116–R120. https://doi.org/10.1016/j.cub.2012.01.028 Article CAS PubMed PubMed Central Google Scholar
Schuck S (2020) Microautophagy – distinct molecular mechanisms handle cargoes of many sizes. J Cell Sci. https://doi.org/10.1242/jcs.246322 Article PubMed Google Scholar
Seibenhener ML, Babu JR, Geetha T et al (2004) Sequestosome 1/p62 is a polyubiquitin chain binding protein involved in ubiquitin proteasome degradation. Mol Cell Biol 24:8055–8068. https://doi.org/10.1128/MCB.24.18.8055-8068.2004 Article CAS PubMed PubMed Central Google Scholar
Sellier C, Campanari M, Julie Corbier C, et al (2016) Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin‐2 to induce motor neuron dysfunction and cell death. EMBO J 35:1276–1297. https://doi.org/10.15252/embj.201593350
Şentürk M, Lin G, Zuo Z et al (2019) Ubiquilins regulate autophagic flux through mTOR signalling and lysosomal acidification. Nat Cell Biol 21:384–396. https://doi.org/10.1038/s41556-019-0281-x Article CAS PubMed PubMed Central Google Scholar
Sharkey LM, Sandoval-Pistorius SS, Moore SJ et al (2020) Modeling UBQLN2-mediated neurodegenerative disease in mice: shared and divergent properties of wild type and mutant UBQLN2 in phase separation, subcellular localization, altered proteostasis pathways, and selective cytotoxicity. Neurobiol Dis 143:105016. https://doi.org/10.1016/j.nbd.2020.105016 Article CAS PubMed PubMed Central Google Scholar
Shaw PJ (2005) Molecular and cellular pathways of neurodegeneration in motor neurone disease. J Neurol Neurosurg Psychiatry 76:1046–1057. https://doi.org/10.1136/jnnp.2004.048652 Article CAS PubMed PubMed Central Google Scholar
Sheerin U-M, Schneider SA, Carr L et al (2014) ALS2 mutations. Neurol 82:1065 LP – 1067. https://doi.org/10.1212/WNL.0000000000000254
Shen W-C, Li H-Y, Chen G-C et al (2015) Mutations in the ubiquitin-binding domain of OPTN/optineurin interfere with autophagy-mediated degradation of misfolded proteins by a dominant-negative mechanism. Autophagy 11:685–700. https://doi.org/10.4161/auto.36098 Article CAS PubMed PubMed Central Google Scholar
Shi Y, Lin S, Staats KA et al (2018) Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons. Nat Med 24:313–325. https://doi.org/10.1038/nm.4490 Article CAS PubMed PubMed Central Google Scholar
Shimizu H, Toyoshima Y, Shiga A et al (2013) Sporadic ALS with compound heterozygous mutations in the SQSTM1 gene. Acta Neuropathol 126:453–459. https://doi.org/10.1007/s00401-013-1150-5 Article CAS PubMed Google Scholar
Shu S, Li XL, Liu Q et al (2016) Screening of the TBK1 gene in familial and sporadic amyotrophic lateral sclerosis patients of Chinese origin. Amyotroph Lateral Scler Frontotemporal Degener 17:605–607. https://doi.org/10.1080/21678421.2016.1183681 Article CAS PubMed Google Scholar
Sica V, Galluzzi L, Bravo-San Pedro JM et al (2015) Organelle-specific initiation of autophagy. Mol Cell 59:522–539. https://doi.org/10.1016/j.molcel.2015.07.021 Article CAS PubMed Google Scholar
Sivadasan R, Hornburg D, Drepper C et al (2016) C9ORF72 interaction with cofilin modulates actin dynamics in motor neurons. Nat Neurosci 19:1610–1618. https://doi.org/10.1038/nn.4407 Article CAS PubMed Google Scholar
Skehel PA, Martin KC, Kandel ER, Bartsch D (1995) A VAMP-binding protein from Aplysia required for neurotransmitter release. Science 269:1580–1583. https://doi.org/10.1126/science.7667638 Article CAS PubMed Google Scholar
Skibinski G, Parkinson NJ, Brown JM et al (2005) Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nat Genet 37:806–808. https://doi.org/10.1038/ng1609 Article CAS PubMed Google Scholar
Smeyers J, Banchi E-G, Latouche M (2021) C9ORF72: what it is, what it does, and why it matters. Front Cell Neurosci 15:661447. https://doi.org/10.3389/fncel.2021.661447 Article CAS PubMed PubMed Central Google Scholar
Smith BN, Ticozzi N, Fallini C et al (2014) Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS. Neuron 84:324–331. https://doi.org/10.1016/j.neuron.2014.09.027 Article CAS PubMed PubMed Central Google Scholar
Spang N, Feldmann A, Huesmann H et al (2014) RAB3GAP1 and RAB3GAP2 modulate basal and rapamycin-induced autophagy. Autophagy 10:2297–2309. https://doi.org/10.4161/15548627.2014.994359 Article CAS PubMed Google Scholar
Stein A, Ruggiano A, Carvalho P, Rapoport TA (2014) Key steps in ERAD of luminal ER proteins reconstituted with purified components. Cell 158:1375–1388. https://doi.org/10.1016/j.cell.2014.07.050 Article CAS PubMed PubMed Central Google Scholar
Stockmann M, Meyer-Ohlendorf M, Achberger K et al (2013) The dynactin p150 subunit: cell biology studies of sequence changes found in ALS/MND and Parkinsonian syndromes. J Neural Transm (vienna) 120:785–798. https://doi.org/10.1007/s00702-012-0910-z Article CAS Google Scholar
Su M-Y, Fromm SA, Zoncu R, Hurley JH (2020) Structure of the C9orf72 ARF GAP complex that is haploinsufficient in ALS and FTD. Nature 585:251–255. https://doi.org/10.1038/s41586-020-2633-x Article CAS PubMed PubMed Central Google Scholar
Sun Y-M, Dong Y, Wang J et al (2017) A novel mutation of VAPB in one Chinese familial amyotrophic lateral sclerosis pedigree and its clinical characteristics. J Neurol 264:2387–2393. https://doi.org/10.1007/s00415-017-8628-3 Article CAS PubMed Google Scholar
Sundaramoorthy V, Walker AK, Tan V et al (2015) Defects in optineurin- and myosin VI-mediated cellular trafficking in amyotrophic lateral sclerosis. Hum Mol Genet 24:3830–3846. https://doi.org/10.1093/hmg/ddv126 Article CAS PubMed Google Scholar
Suzuki H, Kanekura K, Levine TP et al (2009) ALS-linked P56S-VAPB, an aggregated loss-of-function mutant of VAPB, predisposes motor neurons to ER stress-related death by inducing aggregation of co-expressed wild-type VAPB. J Neurochem 108:973–985. https://doi.org/10.1111/j.1471-4159.2008.05857.x Article CAS PubMed Google Scholar
Swarup V, Phaneuf D, Dupré N et al (2011) Deregulation of TDP-43 in amyotrophic lateral sclerosis triggers nuclear factor κB-mediated pathogenic pathways. J Exp Med 208:2429–2447. https://doi.org/10.1084/jem.20111313 Article CAS PubMed PubMed Central Google Scholar
Tanaka A, Cleland MM, Xu S et al (2010) Proteasome and p97 mediate mitophagy and degradation of mitofusins induced by Parkin. J Cell Biol 191:1367–1380. https://doi.org/10.1083/jcb.201007013 Article CAS PubMed PubMed Central Google Scholar
Tang D, Sheng J, Xu L et al (2020) Cryo-EM structure of C9ORF72–SMCR8–WDR41 reveals the role as a GAP for Rab8a and Rab11a. Proc Natl Acad Sci 117:9876–9883. https://doi.org/10.1073/pnas.2002110117 Article CAS PubMed PubMed Central Google Scholar
Taylor JP, Brown RH, Cleveland DW (2016) Decoding ALS: from genes to mechanism. Nature 539:197–206. https://doi.org/10.1038/nature20413 Article PubMed PubMed Central Google Scholar
Teuling E, Ahmed S, Haasdijk E et al (2007) Motor neuron disease-associated mutant vesicle-associated membrane protein-associated protein (VAP) B recruits wild-type VAPs into endoplasmic reticulum-derived tubular aggregates. J Neurosci 27:9801–9815. https://doi.org/10.1523/JNEUROSCI.2661-07.2007 Article CAS PubMed PubMed Central Google Scholar
Teyssou E, Takeda T, Lebon V et al (2013) Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology. Acta Neuropathol 125:511–522. https://doi.org/10.1007/s00401-013-1090-0 Article CAS PubMed Google Scholar
Therrien M, Rouleau GA, Dion PA, Parker JA (2013) Deletion of C9ORF72 results in motor neuron degeneration and stress sensitivity in C. elegans. PLoS One 8:e83450. https://doi.org/10.1371/journal.pone.0083450
Thurston TLM, Ryzhakov G, Bloor S et al (2009) The TBK1 adaptor and autophagy receptor NDP52 restricts the proliferation of ubiquitin-coated bacteria. Nat Immunol 10:1215–1221. https://doi.org/10.1038/ni.1800 Article PubMed Google Scholar
Tischfield MA, Cederquist GY, Gupta MLJ, Engle EC (2011) Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations. Curr Opin Genet Dev 21:286–294. https://doi.org/10.1016/j.gde.2011.01.003 Article CAS PubMed PubMed Central Google Scholar
Topp JD, Gray NW, Gerard RD, Horazdovsky BF (2004) Alsin is a Rab5 and Rac1 guanine nucleotide exchange factor. J Biol Chem 279:24612–24623. https://doi.org/10.1074/jbc.M313504200 Article CAS PubMed Google Scholar
Tresse E, Salomons FA, Vesa J et al (2010) VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD. Autophagy 6:217–227. https://doi.org/10.4161/auto.6.2.11014 Article CAS PubMed Google Scholar
Trotti D, Rolfs A, Danbolt NC et al (1999) Erratum: SOD1 mutants linked to amyotrophic lateral sclerosis selectively inactivate a glial glutamate transporter. Nat Neurosci 2:848–848. https://doi.org/10.1038/12227 Article CAS PubMed Google Scholar
Tsai P-C, Liu Y-C, Lin K-P et al (2016) Mutational analysis of TBK1 in Taiwanese patients with amyotrophic lateral sclerosis. Neurobiol Aging 40:191.e11-191.e16. https://doi.org/10.1016/j.neurobiolaging.2015.12.022 Article CAS Google Scholar
Tudor EL, Galtrey CM, Perkinton MS et al (2010) Amyotrophic lateral sclerosis mutant vesicle-associated membrane protein-associated protein-B transgenic mice develop TAR-DNA-binding protein-43 pathology. Neuroscience 167:774–785. https://doi.org/10.1016/j.neuroscience.2010.02.035 Article CAS PubMed Google Scholar
Tumbarello DA, Waxse BJ, Arden SD et al (2012) Autophagy receptors link myosin VI to autophagosomes to mediate Tom1-dependent autophagosome maturation and fusion with the lysosome. Nat Cell Biol 14:1024–1035. https://doi.org/10.1038/ncb2589 Article CAS PubMed PubMed Central Google Scholar
Tümer Z, Bertelsen B, Gredal O et al (2012) Novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS. Neurobiol Aging 33:208.e1–5. https://doi.org/10.1016/j.neurobiolaging.2011.07.001 Article CAS Google Scholar
Uhlén M, Fagerberg L, Hallström BM, et al (2015) Proteomics. tissue-based map of the human proteome. Sci 347:1260419. https://doi.org/10.1126/science.1260419
Urnavicius L, Zhang K, Diamant AG et al (2015) The structure of the dynactin complex and its interaction with dynein. Science 347:1441–1446. https://doi.org/10.1126/science.aaa4080 Article CAS PubMed PubMed Central Google Scholar
Urwin H, Authier A, Nielsen JE et al (2010) Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations. Hum Mol Genet 19:2228–2238. https://doi.org/10.1093/hmg/ddq100 Article CAS PubMed PubMed Central Google Scholar
Vale RD, Reese TS, Sheetz MP (1985) Identification of a novel force-generating protein, kinesin, involved in microtubule-based motility. Cell 42:39–50. https://doi.org/10.1016/s0092-8674(85)80099-4 Article CAS PubMed PubMed Central Google Scholar
van Blitterswijk M, van Es MA, Koppers M et al (2012a) VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient. Neurobiol Aging 33:2950.e1–4. https://doi.org/10.1016/j.neurobiolaging.2012.07.004 Article CAS Google Scholar
van Blitterswijk M, van Vught PWJ, van Es MA et al (2012b) Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients. Neurobiol Aging 33:1016.e1–7. https://doi.org/10.1016/j.neurobiolaging.2011.05.019 Article CAS Google Scholar
van Blitterswijk M, Vlam L, van Es MA et al (2012c) Genetic overlap between apparently sporadic motor neuron diseases. PLoS ONE 7:e48983. https://doi.org/10.1371/journal.pone.0048983 Article CAS PubMed PubMed Central Google Scholar
van der Zee J, Van Langenhove T, Kovacs GG et al (2014) Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration. Acta Neuropathol 128:397–410. https://doi.org/10.1007/s00401-014-1298-7 Article CAS PubMed PubMed Central Google Scholar
van Mossevelde S, van der Zee J, Cruts M, van Broeckhoven C (2017) Relationship between C9orf72 repeat size and clinical phenotype. Curr Opin Genet Dev 44:117–124. https://doi.org/10.1016/j.gde.2017.02.008 Article CAS PubMed Google Scholar
Van Mossevelde S, van der Zee J, Gijselinck I et al (2016) Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort. Brain 139:452–467. https://doi.org/10.1093/brain/awv358 Article PubMed Google Scholar
van Rheenen W, Shatunov A, Dekker AM et al (2016) Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. Nat Genet 48:1043–1048. https://doi.org/10.1038/ng.3622 Article CAS PubMed PubMed Central Google Scholar
Vaughan KT, Vallee RB (1995) Cytoplasmic dynein binds dynactin through a direct interaction between the intermediate chains and p150Glued. J Cell Biol 131:1507–1516. https://doi.org/10.1083/jcb.131.6.1507 Article CAS PubMed Google Scholar
Verma R, Oania RS, Kolawa NJ, Deshaies RJ (2013) Cdc48/p97 promotes degradation of aberrant nascent polypeptides bound to the ribosome. Elife 2:e00308. https://doi.org/10.7554/eLife.00308 Article CAS PubMed PubMed Central Google Scholar
Vernay A, Therreau L, Blot B et al (2016) A transgenic mouse expressing CHMP2Bintron5 mutant in neurons develops histological and behavioural features of amyotrophic lateral sclerosis and frontotemporal dementia. Hum Mol Genet 25:3341–3360. https://doi.org/10.1093/hmg/ddw182 Article CAS PubMed Google Scholar
Walters KJ, Kleijnen MF, Goh AM et al (2002) Structural studies of the interaction between ubiquitin family proteins and proteasome subunit S5a. Biochemistry 41:1767–1777. https://doi.org/10.1021/bi011892y Article CAS PubMed Google Scholar
Wang J, Hussain T, Yue R et al (2018) MicroRNA-199a inhibits cellular autophagy and downregulates IFN-β expression by targeting TBK1 in Mycobacterium bovis infected cells. Front Cell Infect Microbiol 8:238. https://doi.org/10.3389/fcimb.2018.00238 Article CAS PubMed PubMed Central Google Scholar
Wang M, Wang H, Tao Z et al (2020) C9orf72 associates with inactive Rag GTPases and regulates mTORC1-mediated autophagosomal and lysosomal biogenesis. Aging Cell. https://doi.org/10.1111/acel.13126 Article PubMed PubMed Central Google Scholar
Wang T, Liu H, Itoh K et al (2021) C9orf72 regulates energy homeostasis by stabilizing mitochondrial complex I assembly. Cell Metab 33:531-546.e9. https://doi.org/10.1016/j.cmet.2021.01.005 Article CAS PubMed PubMed Central Google Scholar
Watts GDJ, Wymer J, Kovach MJ et al (2004) Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat Genet 36:377–381. https://doi.org/10.1038/ng1332 Article CAS PubMed Google Scholar
Webster CP, Smith EF, Bauer CS et al (2016) The C9orf72 protein interacts with Rab1a and the ULK 1 complex to regulate initiation of autophagy. EMBO J 35:1656–1676. https://doi.org/10.15252/embj.201694401
West RJH, Ugbode C, Fort-Aznar L, Sweeney ST (2020) Neuroprotective activity of ursodeoxycholic acid in CHMP2B(Intron5) models of frontotemporal dementia. Neurobiol Dis 144:105047. https://doi.org/10.1016/j.nbd.2020.105047 Article CAS PubMed PubMed Central Google Scholar
Wild P, Farhan H, McEwan DG et al (2011) Phosphorylation of the autophagy receptor optineurin restricts Salmonella growth. Science 333:228–233. https://doi.org/10.1126/science.1205405 Article CAS PubMed PubMed Central Google Scholar
Williams KL, McCann EP, Fifita JA et al (2015) Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin. Neurobiol Aging 36:3334.e1–3334.e5. https://doi.org/10.1016/j.neurobiolaging.2015.08.013
Wong YC, Holzbaur ELF (2014) Optineurin is an autophagy receptor for damaged mitochondria in parkin-mediated mitophagy that is disrupted by an ALS-linked mutation. Proc Natl Acad Sci U S A 111:E4439–48. https://doi.org/10.1073/pnas.1405752111
Wu JJ, Cai A, Greenslade JE et al (2020) ALS/FTD mutations in UBQLN2 impede autophagy by reducing autophagosome acidification through loss of function. Proc Natl Acad Sci U S A 117:15230–15241. https://doi.org/10.1073/pnas.1917371117 Article CAS PubMed PubMed Central Google Scholar
Wu Q, Liu M, Huang C et al (2015) Pathogenic Ubqln2 gains toxic properties to induce neuron death. Acta Neuropathol 129:417–428. https://doi.org/10.1007/s00401-014-1367-y Article CAS PubMed Google Scholar
Xiao S, MacNair L, McGoldrick P et al (2015) Isoform-specific antibodies reveal distinct subcellular localizations of C9orf72 in amyotrophic lateral sclerosis. Ann Neurol 78:568–583. https://doi.org/10.1002/ana.24469 Article CAS PubMed Google Scholar
Xu H, Ren D (2015) Lysosomal physiology. Annu Rev Physiol 77:57–80. https://doi.org/10.1146/annurev-physiol-021014-071649 Article CAS PubMed PubMed Central Google Scholar
Xu S, Peng G, Wang Y et al (2011) The AAA-ATPase p97 is essential for outer mitochondrial membrane protein turnover. Mol Biol Cell 22:291–300. https://doi.org/10.1091/mbc.E10-09-0748 Article CAS PubMed PubMed Central Google Scholar
Yamanaka K, Miller TM, McAlonis-Downes M et al (2006) Progressive spinal axonal degeneration and slowness in ALS2-deficient mice. Ann Neurol 60:95–104. https://doi.org/10.1002/ana.20888 Article CAS PubMed Google Scholar
Yamanaka K, Vande Velde C, Eymard-Pierre E et al (2003) Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease. Proc Natl Acad Sci U S A 100:16041 LP – 16046. https://doi.org/10.1073/pnas.2635267100
Yang M, Liang C, Swaminathan K et al (2016) A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy. Sci Adv. https://doi.org/10.1126/sciadv.1601167 Article PubMed PubMed Central Google Scholar
Yang Y, Hentati A, Deng H-X et al (2001) The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet 29:160–165. https://doi.org/10.1038/ng1001-160 Article CAS PubMed Google Scholar
Yin HZ, Nalbandian A, Hsu C-I et al (2012) Slow development of ALS-like spinal cord pathology in mutant valosin-containing protein gene knock-in mice. Cell Death Dis 3:e374–e374. https://doi.org/10.1038/cddis.2012.115 Article CAS PubMed PubMed Central Google Scholar
Yu J, Lai C, Shim H et al (2018) Genetic ablation of dynactin p150(Glued) in postnatal neurons causes preferential degeneration of spinal motor neurons in aged mice. Mol Neurodegener 13:10. https://doi.org/10.1186/s13024-018-0242-z Article CAS PubMed PubMed Central Google Scholar
Zatloukal K, Stumptner C, Fuchsbichler A et al (2002) p62 Is a common component of cytoplasmic inclusions in protein aggregation diseases. Am J Pathol 160:255–263. https://doi.org/10.1016/S0002-9440(10)64369-6 Article CAS PubMed PubMed Central Google Scholar
Zhang K, Donnelly CJ, Haeusler AR et al (2015) The C9orf72 repeat expansion disrupts nucleocytoplasmic transport. Nature 525:56–61. https://doi.org/10.1038/nature14973 Article CAS PubMed PubMed Central Google Scholar
Zhang Y, Zolov SN, Chow CY et al (2007) Loss of Vac14, a regulator of the signaling lipid phosphatidylinositol 3,5-bisphosphate, results in neurodegeneration in mice. Proc Natl Acad Sci U S A 104:17518–17523. https://doi.org/10.1073/pnas.0702275104 Article PubMed PubMed Central Google Scholar
Zhong Y, Wang QJ, Li X et al (2009) Distinct regulation of autophagic activity by Atg14L and Rubicon associated with Beclin 1–phosphatidylinositol-3-kinase complex. Nat Cell Biol 11:468–476. https://doi.org/10.1038/ncb1854 Article CAS PubMed PubMed Central Google Scholar
Zu T, Liu Y, Bañez-Coronel M et al (2013) RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia. PNAS 110:E4968 LP-E4977. https://doi.org/10.1073/pnas.1315438110