Preservation of forelimb function by UPF1 gene therapy in a rat model of TDP-43-induced motor paralysis (original) (raw)
Arai T, Hasegawa M, Akiyama H, Ikeda K, Nonaka T, Mori H et al. TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Biochem Biophys Res Commun 2006; 351: 602–611. ArticleCAS Google Scholar
Mackenzie IR, Bigio EH, Ince PG, Geser F, Neumann M, Cairns NJ et al. Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations. Ann Neurol 2007; 61: 427–434. ArticleCAS Google Scholar
Neumann M, Sampathu DM, Kwong LK, Truax AC, Micsenyi MC, Chou TT et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006; 314: 130–133. ArticleCAS Google Scholar
Chen-Plotkin AS, Lee VM, Trojanowski JQ . TAR DNA-binding protein 43 in neurodegenerative disease. Nat Rev Neurol 2010; 6: 211–220. ArticleCAS Google Scholar
Tatom JB, Wang DB, Dayton RD, Skalli O, Hutton ML, Dickson DW et al. Mimicking aspects of frontotemporal lobar degeneration and Lou Gehrig’s disease in rats via TDP-43 overexpression. Mol. Ther. 2009; 17: 607–613. ArticleCAS Google Scholar
Wang DB, Dayton RD, Henning PP, Cain CD, Zhao LR, Schrott LM et al. Expansive gene transfer to the rat CNS and amyotrophic lateral sclerosis relevant sequelae when TDP-43 is overexpressed. Mol Ther 2010; 18: 2064–2074. ArticleCAS Google Scholar
Dayton RD, Gitcho MA, Orchard EA, Wilson JD, Wang DB, Cain CD et al. Selective forelimb impairment in rats expressing a pathological TDP-43 25 kDa C-terminal fragment to mimic amyotrophic lateral sclerosis. Mol Ther 2013; 21: 1324–1334. ArticleCAS Google Scholar
Barmada SJ, Skibinski G, Korb E, Rao EJ, Wu JY, Finkbeiner S . Cytoplasmic mislocalization of TDP-43 is toxic to neurons and enhanced by a mutation associated with familial amyotrophic lateral sclerosis. J Neurosci 2010; 30: 639–649. ArticleCAS Google Scholar
Wang DB, Gitcho MA, Kraemer BC, Klein RL . Genetic strategies to study TDP-43 in rodents and to develop preclinical therapeutics for amyotrophic lateral sclerosis. Eur J Neurosci 2011; 34: 1179–1188. Article Google Scholar
Armakola M, Higgins MJ, Figley MD, Barmada SJ, Scarborough EA, Diaz Z et al. Inhibition of RNA lariat debranching enzyme suppresses TDP-43 toxicity in ALS disease models. Nat Genet 2012; 44: 1302–1309. ArticleCAS Google Scholar
Hebron M, Chen W, Miessau MJ, Lonskava I, Moussa CE . Parkin reverses TDP-43-induced cell death and failure of amino acid homeostasis. J Neurochem. 2013; 129: 305–361. Google Scholar
Kim HJ, Raphael AR, Ladow ES, McGurk L, Weber RA, Trojanowski JQ et al. Therapeutic modulation of eIF2α phosphorylation rescues TDP-43 toxicity in amyotrophic lateral sclerosis disease models. Nat Genet. 2013; 46: 152–160. Article Google Scholar
Vaccaro A, Patten SA, Ciura S, Maios C, Therrien M, Drapeau P et al. Methylene blue protects against TDP-43 and FUS neuronal toxicity in C. elegans and D. rerio. PLoS One 2012; 7: e42117. ArticleCAS Google Scholar
Wang IF, Guo BS, Liu YC, Wu CC, Yang CH, Tsai KJ et al. Autophagy activators rescue and alleviate pathogenesis of a mouse model with proteinopathies of the TAR DNA-binding protein 43. Proc Natl Acad Sci USA 2012; 109: 15024–15029. ArticleCAS Google Scholar
Karam R, Wengrod J, Gardner LB, Wilkinson MF . Regulation of nonsense-mediated mRNA decay: implications for physiology and disease. Biochim Biophys Acta 2013; 1829: 624–633. ArticleCAS Google Scholar
Popp MW, Maquat LE . Organizing principles of mammalian nonsense-mediated mRNA decay. Annu Rev Genet 2013; 47: 139–165. ArticleCAS Google Scholar
Nguyen LS, Wilkinson MF, Gecz J . Nonsense-mediated mRNA decay: Inter-individual variability and human disease. Neurosci. Biobehav. Rev. 2013; S0149-7634: 270–274. Google Scholar
Barmada S, Ju S, Arjun A, Batarse A, Qu H, Huang EE, et al. RNA helicases ameliorate ALS- and FTD related neurotoxicity. Ann Neurol 2013; 74: S93. Google Scholar
Ju S, Tardiff DF, Han H, Divya K, Zhong Q, Maquat LE et al. A yeast model of FUS/TLS-dependent cytotoxicity. PLoS Biol 2011; 9: e1001052. ArticleCAS Google Scholar
Foust KD, Nurre E, Montgomery CL, Hernandez A, Chan CM, Kaspar BK . Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes. Nat. Biotechnol. 2009; 27: 59–65. ArticleCAS Google Scholar
Polymenidou M, Lagier-Tourenne C, Hutt KR, Huelga SC, Moran J, Liang TY et al. Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43. Nat Neurosci 2011; 14: 459–468. ArticleCAS Google Scholar
Klein RL, Hamby ME, Hirko AC, Gong Y, Wang S, Hughes JA et al. Dose and promoter effects of adeno-associated viral vector for green fluorescent protein expression in the rat brain. Exp Neurol 2002; 176: 66–74. ArticleCAS Google Scholar
Loeb JE, Cordier WS, Harris ME, Weitzman MD, Hope TJ . Enhanced expression of transgenes from adeno-associated virus vectors with the woodchuck hepatitis virus posttranscriptional regulatory element: implications for gene therapy. Hum Gene Ther 1995; 10: 2295–2305. Article Google Scholar
Gitcho MA, Bigio EH, Mishra M, Johnson N, Weintraub S, Mesulam M et al. TARDBP 3′-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy. Acta Neuropathol 2009; 118: 633–645. ArticleCAS Google Scholar
Wils H, Kleinberger G, Janssens J, Pereson S, Joris G, Cuijt I et al. TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration. Proc Natl Acad Sci USA 2010; 107: 3858–3863. ArticleCAS Google Scholar
Wang HY, Wang IF, Bose J, Shen CK . Structural diversity and functional implications of the eukaryotic TDP gene family. Genomics 2004; 83: 130–139. ArticleCAS Google Scholar
Avendaño-Vázquez SE, Dhir A, Bembich S, Buratti E, Proudfood N, Baralle FE . Autoregulation of TDP-43 mRNA levels involves interplay between transcription, splicing, and alternative polyA site selection. Genes Dev 2012; 26: 1679–1684. Article Google Scholar
Ayala YM, De Conti L, Avendaño-Vázquez SE, Dhir A, Romano M, D’Ambrogio A et al. TDP-43 regulates its mRNA levels through a negative feedback loop. EMBO J 2011; 30: 277–288. ArticleCAS Google Scholar
Wengrod J, Martin L, Wang D, Frischmeyer-Guerrerio P, Dietz HC, Gardner LB . Inhibition of nonsense-mediated RNA decay activates autophagy. Mol Cell Biol 2013; 33: 2128–2135. ArticleCAS Google Scholar
Kervestin S, Jacobson A . NMD: a multifaceted response to premature translational termination. Nat Rev Mol Cell Biol 2012; 13: 700–712. ArticleCAS Google Scholar
Isken O, Kim YK, Hosoda N, Mayeur GL, Hershey JW, Maquat LE . Upf1 phosphorylation triggers translational repression during nonsense-mediated mRNA decay. Cell 2008; 133: 314–327. ArticleCAS Google Scholar
Kurosaki T, Li W, Hoque M, Popp M.W.-L., Ermolenko DN, Tian B, Maquat LE . A post-translational regulatory switch on UPF1 controls targeted mRNA degradation. Genes Dev 2014; 28: 1900–1916. ArticleCAS Google Scholar
Gao G, Vandenberghe LH, Alvira MR, Lu Y, Calcedo R, Zhou X, Wilson JM . Clades of Adeno-associated viruses are widely disseminated in human tissues. J Virol 2004; 78: 6381–6388. ArticleCAS Google Scholar
Dayton RD, Wang DB, Klein RL . The advent of AAV9 expands applications for brain and spinal cord gene delivery. Expert Opin Biol Ther 2012; 12: 757–766. ArticleCAS Google Scholar
Duque S, Joussemet B, Riviere C, Marais T, Dubreil L, Douar AM et al. Intravenous administration of self-complementary AAV9 enables transgene delivery to adult motor neurons. Mol Ther 2009; 17: 1187–1196. ArticleCAS Google Scholar
Fu H, Dirosario J, Killedar S, Zaraspe K, McCarty DM . Correction of neurological disease of mucopolysaccharidosis IIIB in adult mice by rAAV9 trans-blood–brain barrier gene delivery. Mol Ther 2011; 19: 1025–1033. ArticleCAS Google Scholar
Gong C, Kim YK, Woeller CF, Tang Y, Maquat LE . SMD and NMD are competitive pathways that contribute to myogenesis: effects on PAX3 and myogenin mRNAs. Genes Dev 2009; 23: 54–66. ArticleCAS Google Scholar
Kurosaki T, Maquat LE . Rules that govern UPF1 binding to mRNA 3’UTRs. Proc Natl Acad Sci USA 2013; 110: 3357–3362. ArticleCAS Google Scholar