Online Mendelian Inheritance in Man (OMIM) (original) (raw)

  1. Abel, K. J., Boehnke, M., Prahalad, M., Ho, P., Flejter, W. L., Watkins, M., VanderStoep, J., Chandrasekharappa, S. C., Collins, F. S., Glover, T. W., Weber, B. L.A radiation hybrid map of the BRCA1 region of chromosome 17q12-q21. Genomics 17: 632-641, 1993. [PubMed: 8244380] [Full Text: https://doi.org/10.1006/geno.1993.1383\]
  2. Alonso, A. D. C., Grundke-Iqbal, I., Iqbal, K.Alzheimer's disease hyperphosphorylated tau sequesters normal tau into tangles of filaments and disassembles microtubules. Nature Med. 2: 783-787, 1996. [PubMed: 8673924] [Full Text: https://doi.org/10.1038/nm0796-783\]
  3. Alonso, A. D., Mederlyova, A., Novak, M., Grundke-Iqbal, I., Iqbal, K.Promotion of hyperphosphorylation by frontotemporal dementia tau mutations. J. Biol. Chem. 279: 34873-34881, 2004. [PubMed: 15190058] [Full Text: https://doi.org/10.1074/jbc.M405131200\]
  4. Andreadis, A., Brown, W. M., Kosik, K. S.Structure and novel exons of the human tau gene. Biochemistry 31: 10626-10633, 1992. [PubMed: 1420178] [Full Text: https://doi.org/10.1021/bi00158a027\]
  5. Aoyagi, H., Hasegawa, M., Tamaoka, A.Fibrillogenic nuclei composed of P301L mutant tau induce elongation of P301L tau but not wild-type tau. J. Biol. Chem. 282: 20309-20318, 2007. [PubMed: 17526496] [Full Text: https://doi.org/10.1074/jbc.M611876200\]
  6. Arima, K., Kowalska, A., Hasegawa, M., Mukoyama, M., Watanabe, R., Kawai, M., Takahashi, K., Iwatsubo, T., Tabira, T., Sunohara, N.Two brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene. Neurology 54: 1787-1795, 2000. [PubMed: 10802785] [Full Text: https://doi.org/10.1212/wnl.54.9.1787\]
  7. Baker, M., Litvan, I., Houlden, H., Adamson, J., Dickson, D., Perez-Tur, J., Hardy, J., Lynch, T., Bigio, E., Hutton, M.Association of an extended haplotype in the tau gene with progressive supranuclear palsy. Hum. Molec. Genet. 8: 711-715, 1999. [PubMed: 10072441] [Full Text: https://doi.org/10.1093/hmg/8.4.711\]
  8. Brown, J., Lantos, P. L., Roques, P., Fidani, L., Rossor, M. N.Familial dementia with swollen achromatic neurons and corticobasal inclusion bodies: a clinical and pathological study. J. Neurol. Sci. 135: 21-30, 1996. [PubMed: 8926492] [Full Text: https://doi.org/10.1016/0022-510x(95)00236-u\]
  9. Bugiani, O., Murrell, J. R., Giaccone, G., Hasegawa, M., Ghigo, G., Tabaton, M., Morbin, M., Primavera, A., Carella, F., Solaro, C., Grisoli, M., Savoiardo, M., Spillantini, M. G., Tagliavini, F., Goedert, M., Ghetti, B.Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau. J. Neuropath. Exp. Neurol. 58: 667-677, 1999. [PubMed: 10374757] [Full Text: https://doi.org/10.1097/00005072-199906000-00011\]
  10. Chatterjee, S., Sang, T.-K., Lawless, G. M., Jackson, G. R.Dissociation of tau toxicity and phosphorylation: role of GSK-3-beta, MARK and Cdk5 in a Drosophila model. Hum. Molec. Genet. 18: 164-177, 2009. [PubMed: 18930955] [Full Text: https://doi.org/10.1093/hmg/ddn326\]
  11. Clark, L. N., Poorkaj, P., Wszolek, Z., Geschwind, D. H., Nasreddine, Z. S., Miller, B., Li, D., Payami, H., Awert, F., Markopoulou, K., Andreadis, A., D'Souza, I., Lee, V. M.-Y., Reed, L., Trojanowski, J. Q., Zhukareva, V., Bird, T., Schellenberg, G., Wilhelmsen, K. C.Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17. Proc. Nat. Acad. Sci. 95: 13103-13107, 1998. [PubMed: 9789048] [Full Text: https://doi.org/10.1073/pnas.95.22.13103\]
  12. Colombo, R., Tavian, D., Baker, M. C., Richardson, A. M. T., Snowden, J. S., Neary, D., Mann, D. M. A., Pickering-Brown, S. M.Recent origin and spread of a common Welsh MAPT splice mutation causing frontotemporal lobar degeneration. Neurogenetics 10: 313-318, 2009. [PubMed: 19365643] [Full Text: https://doi.org/10.1007/s10048-009-0189-x\]
  13. Connell, J. W., Gibb, G. M., Betts, J. C., Blackstock, W. P., Gallo, J.-M., Lovestone, S., Hutton, M., Anderton, B. H.Effects of FTDP-17 mutations on the in vitro phosphorylation of tau by glycogen synthase kinase 3-beta identified by mass spectrometry demonstrate certain mutations exert long-range conformational changes. FEBS Lett. 493: 40-44, 2001. [PubMed: 11278002] [Full Text: https://doi.org/10.1016/s0014-5793(01)02267-0\]
  14. Conrad, C., Andreadis, A., Trojanowski, J. Q., Dickson,D. W., Kang, D., Chen, X., Weiderholt, W., Hansen, L., Masliah, E., Thal, L. J., Katzman, R., Xia, Y., Saitoh, T.Genetic evidence for the involvement of tau in progressive supranuclear palsy. Ann. Neurol. 41: 277-281, 1997. [PubMed: 9029080] [Full Text: https://doi.org/10.1002/ana.410410222\]
  15. Conrad, C., Vianna, C., Freeman, M., Davies, P.A polymorphic gene nested within an intron of the tau gene: implications for Alzheimer's disease. Proc. Nat. Acad. Sci. 99: 7751-7756, 2002. [PubMed: 12032355] [Full Text: https://doi.org/10.1073/pnas.112194599\]
  16. Dark, F.A family with autosomal dominant non-Alzheimer's presenile dementia. Aust. New Zeal. J. Psychiat. 31: 139-144, 1997. [PubMed: 9088499] [Full Text: https://doi.org/10.3109/00048679709073812\]
  17. David, D. C., Hauptmann, S., Scherping, I., Schuessel, K., Keil, U., Rizzu, P., Ravid, R., Drose, S., Brandt, U., Muller, W. E., Eckert, A., Gotz, J.Proteomic and functional analyses reveal a mitochondrial dysfunction in P301L tau transgenic mice. J. Biol. Chem. 280: 23802-23814, 2005. [PubMed: 15831501] [Full Text: https://doi.org/10.1074/jbc.M500356200\]
  18. de Calignon, A., Fox, L. M., Pitstick, R., Carlson, G. A., Bacskai, B. J., Spires-Jones, T. L., Hyman, B. T.Caspase activation precedes and leads to tangles. Nature 464: 1201-1204, 2010. [PubMed: 20357768] [Full Text: https://doi.org/10.1038/nature08890\]
  19. Delacourte, A., Sergeant, N., Champain, D., Wattez, A., Maurage, C.-A., Lebert, F., Pasquier, F., David, J.-P.Nonoverlapping but synergetic tau and APP pathologies in sporadic Alzheimer's disease. Neurology 59: 398-407, 2002. [PubMed: 12177374] [Full Text: https://doi.org/10.1212/wnl.59.3.398\]
  20. Delisle, M.-B., Murrell, J. R., Richardson, R., Trofatter, J. A., Rascol, O., Soulages, X., Mohr, M., Calvas, P., Ghetti, B.A mutation at codon 279 (N279K) in exon 10 of the tau gene causes a tauopathy with dementia and supranuclear palsy. Acta Neuropath. 98: 62-77, 1999. [PubMed: 10412802] [Full Text: https://doi.org/10.1007/s004010051052\]
  21. den Dunnen, J. T., Antonarakis, S. E.Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum. Mutat. 15: 7-12, 2000. Note: Erratum: Hum. Mutat. 20: 403 only, 2002. [PubMed: 10612815] [Full Text: https://doi.org/10.1002/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N]
  22. Dixit, R., Ross, J. L., Goldman, Y. E., Holzbaur, E. L. F.Differential regulation of dynein and kinesin motor proteins by tau. Science 319: 1086-1089, 2008. [PubMed: 18202255] [Full Text: https://doi.org/10.1126/science.1152993\]
  23. Donker Kaat, L., Boon, A. J. W., Azmani, A., Kamphorst, W., Breteler, M. M. B., Anar, B., Heutink, P., van Swieten, J. C.Familial aggregation of parkinsonism in progressive supranuclear palsy. Neurology 73: 98-105, 2009. [PubMed: 19458322] [Full Text: https://doi.org/10.1212/WNL.0b013e3181a92bcc\]
  24. Donlon, T. A., Harris, P., Neve, R. L.Localization of microtubule-associated protein tau (MTBT1) to chromosome 17q21. (Abstract) Cytogenet. Cell Genet. 46: 607, 1987.
  25. Donnelly, M. P., Paschou, P., Grigorenko, E., Gurwitz, D., Mehdi, S. Q., Kajuna, S. L. B., Barta, C., Kungulilo, S., Karoma, N. J., Lu, R.-B., Zhukova, O. V., Kim, J.-J., and 11 others.The distribution and most recent common ancestor of the 17q21 inversion in humans. Am. J. Hum. Genet. 86: 161-171, 2010. [PubMed: 20116045] [Full Text: https://doi.org/10.1016/j.ajhg.2010.01.007\]
  26. Doran, M., du Plessis, D. G., Ghadiali, E. J., Mann, D. M. A., Pickering-Brown, S., Larner, A. J.Familial early-onset dementia with tau intron 10 +16 mutation with clinical features similar to those of Alzheimer disease. Arch. Neurol. 64: 1535-1539, 2007. [PubMed: 17923640] [Full Text: https://doi.org/10.1001/archneur.64.10.1535\]
  27. Elbaz, A., Ross, O. A., Ioannidis, J. P. A., Soto-Ortolaza, A. I., Moisan, F., Aasly, J., Annesi, G., Bozi, M., Brighina, L., Chartier-Harlin, M.-C., Destee, A., Ferrarese, C., and 29 others.Independent and joint effects of the MAPT and SNCA genes in Parkinson disease. Ann. Neurol. 69: 778-792, 2011. [PubMed: 21391235] [Full Text: https://doi.org/10.1002/ana.22321\]
  28. Falcon, B., Zhang, W., Murzin, A. G., Murshudov, G., Garringer, H. J., Vidal, R., Crowther, R. A., Ghetti, B., Scheres, S. H. W., Goedert, M.Structures of filaments from Pick's disease reveal a novel tau protein fold. Nature 561: 137-140, 2018. [PubMed: 30158706] [Full Text: https://doi.org/10.1038/s41586-018-0454-y\]
  29. Falcon, B., Zivanov, J., Zhang, W., Murzin, A. G., Garringer, H. J., Vidal, R., Crowther, R. A., Newell, K. L., Ghetti, B., Goedert, M., Scheres, S. H. W.Novel tau filament fold in chronic traumatic encephalopathy encloses hydrophobic molecules. Nature 568: 420-423, 2019. [PubMed: 30894745] [Full Text: https://doi.org/10.1038/s41586-019-1026-5\]
  30. Falzone, T. L., Gunawardena, S., McCleary, D., Reis, G. F., Goldstein, L. S. B.Kinesin-1 transport reductions enhance human tau hyperphosphorylation, aggregation and neurodegeneration in animal models of tauopathies. Hum. Molec. Genet. 19: 4399-4408, 2010. [PubMed: 20817925] [Full Text: https://doi.org/10.1093/hmg/ddq363\]
  31. Faraco, G., Hochrainer, K., Segarra, S. G., Schaeffer, S., Santisteban, M. M., Menon, A., Jiang, H., Holtzman, D. M., Anrather, J., Iadecola, C.Dietary salt promotes cognitive impairment through tau phosphorylation. Nature 574: 686-690, 2019. Note: Erratum: Nature 578: E9, 2019. [PubMed: 31645758] [Full Text: https://doi.org/10.1038/s41586-019-1688-z\]
  32. Garcia-Gorostiaga, I., Sanchez-Juan, P., Mateo, I., Rodriguez-Rodriguez, E., Sanchez-Quintana, C., Curiel del Olmo, S., Vazquez-Higuera, J. L., Berciano, J., Combarros, O., Infante, J.Glycogen synthase kinase-3 and tau genes interact in Parkinson's and Alzheimer's diseases. (Letter) Ann. Neurol. 65: 759-760, 2009. [PubMed: 19557862] [Full Text: https://doi.org/10.1002/ana.21687\]
  33. Giasson, B. I., Forman, M. S., Higuchi, M., Golbe, L. I., Graves, C. L., Kotzbauer, P. T., Trojanowski, J. Q., Lee, V. M.-Y.Initiation and synergistic fibrillization of tau and alpha-synuclein. Science 300: 636-640, 2003. [PubMed: 12714745] [Full Text: https://doi.org/10.1126/science.1082324\]
  34. Goedert, M., Crowther, R. A., Spillantini, M. G.Tau mutations cause frontotemporal dementias. Neuron 21: 955-958, 1998. [PubMed: 9856453] [Full Text: https://doi.org/10.1016/s0896-6273(00)80615-7\]
  35. Goedert, M., Spillantini, M. G., Crowther, R. A., Chen, S. G., Parchi, P., Tabaton, M., Lanska, D. J., Markesbery, W. R., Wilhelmsen, K. C., Dickson, D. W., Petersen, R. B., Gambetti, P.Tau gene mutation in familial progressive subcortical gliosis. Nature Med. 5: 454-457, 1999. [PubMed: 10202939] [Full Text: https://doi.org/10.1038/7454\]
  36. Goedert, M., Spillantini, M. G., Jakes, R., Rutherford, D., Crowther, R. A.Multiple isoforms of human microtubule-associated protein tau: sequences and localization in neurofibrillary tangles of Alzheimer's disease. Neuron 3: 519-526, 1989. [PubMed: 2484340] [Full Text: https://doi.org/10.1016/0896-6273(89)90210-9\]
  37. Goedert, M., Spillantini, M. G., Potier, M. C., Ulrich, J., Crowther, R. A.Cloning and sequencing of the cDNA encoding an isoform of microtubule-associated protein tau containing four tandem repeats: differential expression of tau protein mRNAs in human brain. EMBO J. 8: 393-399, 1989. [PubMed: 2498079] [Full Text: https://doi.org/10.1002/j.1460-2075.1989.tb03390.x\]
  38. Goedert, M., Wischik, C. M., Crowther, R. A., Walker, J. E., Klug, A.Cloning and sequencing of the cDNA encoding a core protein of the paired helical filament of Alzheimer disease: identification as the microtubule-associated protein tau. Proc. Nat. Acad. Sci. 85: 4051-4055, 1988. [PubMed: 3131773] [Full Text: https://doi.org/10.1073/pnas.85.11.4051\]
  39. Goode, B. L., Chau, M., Denis, P. E., Feinstein, S. C.Structural and functional differences between 3-repeat and 4-repeat tau isoforms: implications for normal tau function and the onset of neurodegenerative disease. J. Biol. Chem. 275: 38182-38189, 2000. [PubMed: 10984497] [Full Text: https://doi.org/10.1074/jbc.M007489200\]
  40. Goris, A., Williams-Gray, C. H., Clark, G. R., Foltynie, T., Lewis, S. J. G., Brown, J., Ban, M., Spillantini, M. G., Compston, A., Burn, D. J., Chinnery, P. F., Barker, R. A., Sawcer, S. J.Tau and alpha-synuclein in susceptibility to, and dementia in, Parkinson's disease. Ann. Neurol. 62: 145-153, 2007. [PubMed: 17683088] [Full Text: https://doi.org/10.1002/ana.21192\]
  41. Gotz, J., Chen, F., van Dorpe, J., Nitsch, R. M.Formation of neurofibrillary tangles in P301L tau transgenic mice induced by A-beta42 fibrils. Science 293: 1491-1495, 2001. [PubMed: 11520988] [Full Text: https://doi.org/10.1126/science.1062097\]
  42. Guo, J.-P., Arai, T., Miklossy, J., McGeer, P. L.Amyloid-beta and tau form soluble complexes that may promote self aggregation of both into the insoluble forms observed in Alzheimer's disease. Proc. Nat. Acad. Sci. 103: 1953-1958, 2006. [PubMed: 16446437] [Full Text: https://doi.org/10.1073/pnas.0509386103\]
  43. Guthrie, C. R., Schellenberg, G. D., Kraemer, B. C.SUT-2 potentiates tau-induced neurotoxicity in Caenorhabditis elegans. Hum. Molec. Genet. 18: 1825-1838, 2009. [PubMed: 19273536] [Full Text: https://doi.org/10.1093/hmg/ddp099\]
  44. Hayashi, S., Toyoshima, Y., Hasegawa, M., Umeda, Y., Wakabayashi, K., Tokiguchi, S., Iwatsubo, T., Takahashi, H.Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation. Ann. Neurol. 51: 525-530, 2002. [PubMed: 11921059] [Full Text: https://doi.org/10.1002/ana.10163\]
  45. Heutink, P., Stevens, M., Rizzu, P., Bakker, E., Kros, J. M., Tibben, A., Niermeijer, M. F., van Duijn, C. M., Oostra, B. A., van Swieten, J. C.Hereditary frontotemporal dementia is linked to chromosome 17q21-q22: a genetic and clinicopathological study of three Dutch families. Ann. Neurol. 41: 150-159, 1997. [PubMed: 9029063] [Full Text: https://doi.org/10.1002/ana.410410205\]
  46. Heutink, P.Untangling tau-related dementia. Hum. Molec. Genet. 9: 979-986, 2000. [PubMed: 10767321] [Full Text: https://doi.org/10.1093/hmg/9.6.979\]
  47. Hiesberger, T., Trommsdorff, M., Howell, B. W., Goffinet, A., Mumby, M. C., Cooper, J. A., Herz, J.Direct binding of reelin to VLDL receptor and apoE receptor 2 induces tyrosine phosphorylation of disabled-1 and modulates tau phosphorylation. Neuron 24: 481-489, 1999. [PubMed: 10571241] [Full Text: https://doi.org/10.1016/s0896-6273(00)80861-2\]
  48. Higuchi, M., Lee, V. M.-Y., Trojanowski, J. Q.Tau and axonopathy in neurodegenerative disorders. Neuromolec. Med. 2: 131-150, 2002. [PubMed: 12428808] [Full Text: https://doi.org/10.1385/NMM:2:2:131\]
  49. Holzer, M., Craxton, M., Jakes, R., Arendt, T., Goedert, M.Tau gene (MAPT) sequence variation among primates. Gene 341: 313-322, 2004. [PubMed: 15474313] [Full Text: https://doi.org/10.1016/j.gene.2004.07.013\]
  50. Hong, M., Zhukareva, V., Vogelsberg-Ragaglia, V., Wszolek, Z., Reed, L., Miller, B. I., Geschwind, D. H., Bird, T. D., McKeel, D., Goate, A., Morris, J. C., Wilhelmsen, K. C., Schellenberg, G. D., Trojanowski, J. Q., Lee, V. M.-Y.Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17. Science 282: 1914-1917, 1998. [PubMed: 9836646] [Full Text: https://doi.org/10.1126/science.282.5395.1914\]
  51. Hutton, M., Lendon, C. L., Rizzu, P., Baker, M., Froelich, S., Houlden, H., Pickering-Brown, S., Chakraverty, S., Isaacs, A., Grover, A., Hackett, J., Adamson, J., and 39 others.Association of missense and 5-prime-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 393: 702-705, 1998. [PubMed: 9641683] [Full Text: https://doi.org/10.1038/31508\]
  52. Hutton, M.Missense and splice site mutations in tau associated with FTDP-17: multiple pathogenic mechanisms. Neurology 56 (suppl. 4): S21-S25, 2001. [PubMed: 11402146] [Full Text: https://doi.org/10.1212/wnl.56.suppl\_4.s21\]
  53. Iijima, K., Gatt, A., Iijima-Ando, K.Tau ser262 phosphorylation is critical for A-beta-42-induced tau toxicity in a transgenic Drosophila model of Alzheimer's disease. Hum. Molec. Genet. 19: 2947-2957, 2010. [PubMed: 20466736] [Full Text: https://doi.org/10.1093/hmg/ddq200\]
  54. Iijima, M., Tabira, T., Poorkaj, P., Schellenberg, G. D., Trojanowski, J. Q., Lee, V. M., Schmidt, M. L., Takahashi, K., Nabika, T., Matsumoto, T., Yamashita, Y., Yoshioka, S., Ishino, H.A distinct familial presenile dementia with a novel missense mutation in the tau gene. Neuroreport 10: 497-501, 1999. [PubMed: 10208578] [Full Text: https://doi.org/10.1097/00001756-199902250-00010\]
  55. Iijima-Ando, K., Zhao, L., Gatt, A., Shenton, C., Iijima, K.A DNA damage-activated checkpoint kinase phosphorylates tau and enhances tau-induced neurodegeneration. Hum. Molec. Genet. 19: 1930-1938, 2010. [PubMed: 20159774] [Full Text: https://doi.org/10.1093/hmg/ddq068\]
  56. Ishihara, T., Hong, M., Zhang, B., Nakagawa, Y., Lee, M. K., Trojanowski, J. Q., Lee, V. M.-Y.Age-dependent emergence and progression of a tauopathy in transgenic mice overexpressing the shortest human tau isoform. Neuron 24: 751-762, 1999. [PubMed: 10595524] [Full Text: https://doi.org/10.1016/s0896-6273(00)81127-7\]
  57. Janssen, J. C., Warrington, E. K., Morris, H. R., Lantos, P., Brown, J., Revesz, T., Wood, N., Khan, M. N., Cipolotti, L., Fox, N. C., Rossor, M. N.Clinical features of frontotemporal dementia due to the intronic tau 10 +16 mutation. Neurology 58: 1161-1168, 2002. [PubMed: 11971081] [Full Text: https://doi.org/10.1212/wnl.58.8.1161\]
  58. Jiang, Z., Cote, J., Kwon, J. M., Goate, A. M., Wu, J. Y.Aberrant splicing of tau pre-mRNA caused by intronic mutations associated with the inherited dementia frontotemporal dementia with Parkinsonism linked to chromosome 17. Molec. Cell. Biol. 20: 4036-4048, 2000. Note: Erratum: Molec. Cell. Biol. 20: 5360 only, 2000. [PubMed: 10805746] [Full Text: https://doi.org/10.1128/MCB.20.11.4036-4048.2000\]
  59. Karsten, S. L., Sang, T.-K., Gehman, L. T., Chatterjee, S., Liu, J., Lawless, G. M., Sengupta, S., Berry, R. W., Pomakian, J., Oh, H. S., Schulz, C., Hui, K.-S., Wiedau-Pazos, M., Vinters, H. V., Binder, L. I., Geschwind, D. H., Jackson, G. R.A genomic screen for modifiers of tauopathy identified puromycin-sensitive aminopeptidase as an inhibitor of tau-induced neurodegeneration. Neuron 51: 549-560, 2006. [PubMed: 16950154] [Full Text: https://doi.org/10.1016/j.neuron.2006.07.019\]
  60. Kobayashi, T., Ota, S., Tanaka, K., Ito, Y., Hasegawa, M., Umeda, Y., Motoi, Y., Takanashi, M., Yasuhara, M., Anno, M., Mizuno, Y., Mori, H.A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology. Ann. Neurol. 53: 133-137, 2003. [PubMed: 12509859] [Full Text: https://doi.org/10.1002/ana.10447\]
  61. Kondo, A., Shahpasand, K., Mannix, R., Qiu, J., Moncaster, J., Chen, C.-H., Yao, Y., Lin, Y.-M., Driver, J. A., Sun, Y., Wei, S., Luo, M.-L., and 10 others.Antibody against early driver of neurodegeneration cis P-tau blocks brain injury and tauopathy. Nature 523: 431-436, 2015. [PubMed: 26176913] [Full Text: https://doi.org/10.1038/nature14658\]
  62. Kwok, J. B. J., Hallupp, M., Loy, C. T., Chan, D. K. Y., Woo, J., Mellick, G. D., Buchanan, D. D., Silburn, P. A., Halliday, G. M., Schofield, P. R.GSK3B polymorphisms alter transcription and splicing in Parkinson's disease. Ann. Neurol. 58: 829-839, 2005. [PubMed: 16315267] [Full Text: https://doi.org/10.1002/ana.20691\]
  63. Kwok, J. B. J., Loy, C. T., Hamilton, G., Lau, E., Hallupp, M., Williams, J., Owen, M. J., Broe, G. A., Tang, N., Lam, L., Powell, J. F., Lovestone, S., Schofield, P. R.Glycogen synthase kinase-3 and tau genes interact in Alzheimer's disease. Ann. Neurol. 64: 446-454, 2008. [PubMed: 18991351] [Full Text: https://doi.org/10.1002/ana.21476\]
  64. Kwok, J. B. J., Teber, E. T., Loy, C., Hallupp, M., Nicholson, G., Mellick, G. D., Buchanan, D. D., Silburn, P. A., Schofield, P. R.Tau haplotypes regulate transcription and are associated with Parkinson's disease. Ann. Neurol. 55: 329-334, 2004. [PubMed: 14991810] [Full Text: https://doi.org/10.1002/ana.10826\]
  65. Lanska, D. J., Currier, R. D., Cohen, M., Gambetti, P., Smith, E. E., Bebin, J., Jackson, J. F., Whitehouse, P. J., Markesbery, W. R.Familial progressive subcortical gliosis. Neurology 44: 1633-1643, 1994. [PubMed: 7936288] [Full Text: https://doi.org/10.1212/wnl.44.9.1633\]
  66. Lantos, P. L., Cairns, N. J., Khan, M. N., King, A., Revesz, T., Janssen, J. C., Morris, H., Rossor, M. N.Neuropathologic variation in frontotemporal dementia due to the intronic tau 10 +16 mutation. Neurology 58: 1169-1175, 2002. [PubMed: 11971082] [Full Text: https://doi.org/10.1212/wnl.58.8.1169\]
  67. Lei, P., Ayton, S., Finkelstein, D. I., Spoerri, L., Ciccotosto, G. D., Wright, D. K., Wong, B. X. W., Adlard, P. A., Cherny, R. A., Lam, L. Q., Roberts, B. R., Volitakis, I., Egan, G. F., McLean, C. A., Cappai, R., Duce, J. A., Bush, A. I.Tau deficiency induces parkinsonism with dementia by impairing APP-mediated iron export. Nature Med. 18: 291-295, 2012. [PubMed: 22286308] [Full Text: https://doi.org/10.1038/nm.2613\]
  68. Lewis, J., Dickson, D. W., Lin, W.-L., Chisholm, L., Corral, A., Jones, G., Yen, S.-H., Sahara, N., Skipper, L., Yager, D., Eckman, C., Hardy, J., Hutton, M., McGowan, E.Enhanced neurofibrillary degeneration in transgenic mice expressing mutant tau and APP. Science 293: 1487-1491, 2001. [PubMed: 11520987] [Full Text: https://doi.org/10.1126/science.1058189\]
  69. Lewis, J., McGowan, E., Rockwood, J., Melrose, H., Nacharaju, P., Van Slegtenhorst, M., Gwinn-Hardy, K., Murphy, M. P., Baker, M., Yu, X., Duff, K., Hardy, J., Corral, A., Lin, W.-L., Yen, S.-H., Dickson, D. W., Davies, P., Hutton, M.Neurofibrillary tangles, amyotrophy and progressive motor disturbance in mice expressing mutant (P301L) tau protein. Nature Genet. 25: 402-405, 2000. Note: Erratum: Nature Genet. 26: 127 only, 2000. [PubMed: 10932182] [Full Text: https://doi.org/10.1038/78078\]
  70. Li, H.-L., Wang, H.-H., Liu, S.-J., Deng, Y.-Q., Zhang, Y.-J., Tian, Q., Wang, X.-C., Chen, X.-Q., Yang, Y., Zhang, J.-Y., Wang, Q., Xu, H., Liao, F.-F., Wang, J.-Z.Phosphorylation of tau antagonizes apoptosis by stabilizing beta-catenin, a mechanism involved in Alzheimer's neurodegeneration. Proc. Nat. Acad. Sci. 104: 3591-3596, 2007. [PubMed: 17360687] [Full Text: https://doi.org/10.1073/pnas.0609303104\]
  71. Lippa, C. F., Zhukareva, V., Kawarai, T., Uryu, K., Shafiq, M., Nee, L. E., Grafman, J., Liang, Y., St George-Hyslop, P. H., Trojanowski, J. Q., Lee, V. M.-Y.Frontotemporal dementia with novel tau pathology and a glu342val tau mutation. Ann. Neurol. 48: 850-858, 2000. [PubMed: 11117541]
  72. Litvan, I., Baker, M., Hutton, M.Tau genotype: no effect on onset, symptom severity, or survival in progressive supranuclear palsy. Neurology 57: 138-140, 2001. [PubMed: 11445645] [Full Text: https://doi.org/10.1212/wnl.57.1.138\]
  73. Liu, F., Iqbal, K., Grundke-Iqbal, I., Hart, G. W., Gong, C.-X.O-GlcNAcylation regulates phosphorylation of tau: a mechanism involved in Alzheimer's disease. Proc. Nat. Acad. Sci. 101: 10804-10809, 2004. [PubMed: 15249677] [Full Text: https://doi.org/10.1073/pnas.0400348101\]
  74. Lossos, A., Reches, A., Gal, A., Newman, J. P., Soffer, D., Gomori, J. M., Boher, M., Ekstein, D., Biran, I., Meiner, Z., Abramsky, O., Rosenmann, H.Frontotemporal dementia and parkinsonism with the P301S tau gene mutation in a Jewish family. J. Neurol. 250: 733-740, 2003. [PubMed: 12796837] [Full Text: https://doi.org/10.1007/s00415-003-1074-4\]
  75. Lu, P.-J., Wulf, G., Zhou, X. Z., Davies, P., Lu, K. P.The prolyl isomerase Pin1 restores the function of Alzheimer-associated phosphorylated tau protein. Nature 399: 784-788, 1999. [PubMed: 10391244] [Full Text: https://doi.org/10.1038/21650\]
  76. Lund, H., Cowburn, R. F., Gustafsson, E., Stromberg, K., Svensson, A., Dahllund, L., Malinwosky, D., Sunnemark, D.Tau-tubulin kinase 1 expression, phosphorylation and co-localization with phospho-ser422 tau in Alzheimer's disease brain. Brain Path. 23: 378-389, 2013. [PubMed: 23088643] [Full Text: https://doi.org/10.1111/bpa.12001\]
  77. Mamah, C. E., Lesnick, T. G., Lincoln, S. J., Strain, K. J., de Andrade, M., Bower, J. H., Ahlskog, J. E., Rocca, W. A., Farrer, M. J., Maraganore, D. M.Interaction of alpha-synuclein and tau genotypes in Parkinson's disease. Ann. Neurol. 57: 439-443, 2005. [PubMed: 15732111] [Full Text: https://doi.org/10.1002/ana.20387\]
  78. Martin, E. R., Scott, W. K., Nance, M. A., Watts, R. L., Hubble, J. P., Koller, W. C., Lyons, K., Pahwa, R., Stern, M. B., Colcher, A., Hiner, B. C., Jankovic, J., and 20 others.Association of single-nucleotide polymorphisms of the Tau gene with late-onset Parkinson disease. JAMA 286: 2245-2250, 2001. [PubMed: 11710889] [Full Text: https://doi.org/10.1001/jama.286.18.2245\]
  79. Miyamoto, K., Kowalska, A., Hasegawa, M., Tabira, T., Takahashi, K., Araki, W., Akiguchi, I., Ikemoto, A.Familial frontotemporal dementia and parkinsonism with a novel mutation at an intron 10+11-splice site in the tau gene. Ann. Neurol. 50: 117-120, 2001. [PubMed: 11456301] [Full Text: https://doi.org/10.1002/ana.1083\]
  80. Murrell, J. R., Spillantini, M. G., Zolo, P., Guazzelli, M., Smith, M. J., Hasegawa, M., Redi, F., Crowther, R. A., Pietrini, P., Ghetti, B., Goedert, M.Tau gene mutation G389R causes a tauopathy with abundant Pick body-like inclusions and axonal deposits. J. Neuropath. Exp. Neurol. 58: 1207-1226, 1999. [PubMed: 10604746] [Full Text: https://doi.org/10.1097/00005072-199912000-00002\]
  81. Myers, A. J., Kaleem, M., Marlowe, L., Pittman, A. M., Lees, A. J., Fung, H. C., Duckworth, J., Leung, D., Gibson, A., Morris, C. M., de Silva, R., Hardy, J.The H1c haplotype at the MAPT locus is associated with Alzheimer's disease. Hum. Molec. Genet. 14: 2399-2404, 2005. [PubMed: 16000317] [Full Text: https://doi.org/10.1093/hmg/ddi241\]
  82. Nagase, T., Ishikawa, K., Kikuno, R., Hirosawa, M., Nomura, N., Ohara, O.Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 6: 337-345, 1999. [PubMed: 10574462] [Full Text: https://doi.org/10.1093/dnares/6.5.337\]
  83. Neumann, M., Schulz-Schaeffer, W., Crowther, R. A., Smith, M. J., Spillantini, M. G., Goedert, M., Kretzschmar, H. A.Pick's disease associated with the novel tau gene mutation K369I. Ann. Neurol. 50: 503-513, 2001. [PubMed: 11601501] [Full Text: https://doi.org/10.1002/ana.1223\]
  84. Neve, R. L., Harris, P., Kosik, K. S., Kurnit, D. M., Donlon, T. A.Identification of cDNA clones for the human microtubule-associated protein tau and chromosomal localization of the genes for tau and microtubule-associated protein 2. Brain Res. 387: 271-280, 1986. [PubMed: 3103857] [Full Text: https://doi.org/10.1016/0169-328x(86)90033-1\]
  85. Nguyen, M. D., Lariviere, R. C., Julien, J.-P.Deregulation of Cdk5 in a mouse model of ALS: toxicity alleviated by perikaryal neurofilament inclusions. Neuron 30: 135-147, 2001. [PubMed: 11343650] [Full Text: https://doi.org/10.1016/s0896-6273(01)00268-9\]
  86. Nicholl, D. J., Greenstone, M. A., Clarke, C. E., Rizzu, P., Crooks, D., Crowe, A., Trojanowski, J. Q., Lee, V. M.-Y., Heutink, P.An English kindred with a novel recessive tauopathy and respiratory failure. Ann. Neurol. 54: 682-686, 2003. [PubMed: 14595660] [Full Text: https://doi.org/10.1002/ana.10747\]
  87. Nussbaum, J. M., Schilling, S., Cynis, H., Silva, A., Swanson, E., Wangsanut, T., Tayler, K., Wiltgen, B., Hatami, A., Ronicke, R., Reymann, K., Hutter-Paier, B., Alexandru, A., Jagla, W., Graubner, S., Glabe, C. G., Demuth, H.-U., Bloom, G. S.Prion-like behaviour and tau-dependent cytotoxicity of pyroglutamylated amyloid-beta. Nature 485: 651-655, 2012. [PubMed: 22660329] [Full Text: https://doi.org/10.1038/nature11060\]
  88. Oliva, R., Pastor, P.Tau gene delN296 mutation, Parkinson's disease, and atypical supranuclear palsy. (Letter) Ann. Neurol. 55: 448-449, 2004. [PubMed: 14991828] [Full Text: https://doi.org/10.1002/ana.20025\]
  89. Panda, D., Samuel, J. C., Massie, M., Feinstein, S. C., Wilson, L.Differential regulation of microtubule dynamics by three- and four-repeat tau: implications for the onset of neurodegenerative disease. Proc. Nat. Acad. Sci. 100: 9548-9553, 2003. [PubMed: 12886013] [Full Text: https://doi.org/10.1073/pnas.1633508100\]
  90. Pastor, P., Ezquerra, M., Tolosa, E., Munoz, E., Marti, M. J., Valldeoriola, F., Molinuevo, J. L., Calopa, M., Oliva, R.Further extension of the H1 haplotype associated with progressive supranuclear palsy. Mov. Disord. 17: 550-556, 2002. [PubMed: 12112206] [Full Text: https://doi.org/10.1002/mds.10076\]
  91. Pastor, P., Pastor, E., Carnero, C., Vela, R., Garcia, T., Amer, G., Tolosa, E., Oliva, R.Familial atypical progressive supranuclear palsy associated with homozygosity for the delN296 mutation in the tau gene. Ann. Neurol. 49: 263-267, 2001. [PubMed: 11220749] [Full Text: https://doi.org/10.1002/1531-8249(20010201)49:2<263::aid-ana50>3.0.co;2-k]
  92. Petrucelli, L., Dickson, D., Kehoe, K., Taylor, J., Snyder, H., Grover, A., De Lucia, M., McGowan, E., Lewis, J., Prihar, G., Kim, J., Dillmann, W. H., Browne, S. E., Hall, A., Voellmy, R., Tsuboi, Y., Dawson, T. M., Wolozin, B., Hardy, J., Hutton, M.CHIP and Hsp70 regulate tau ubiquitination, degradation and aggregation. Hum. Molec. Genet. 13: 703-714, 2004. [PubMed: 14962978] [Full Text: https://doi.org/10.1093/hmg/ddh083\]
  93. Pickering-Brown, S., Baker, M., Bird, T., Trojanowski, J., Lee, V., Morris, H., Rossor, M., Janssen, J. C., Neary, D., Craufurd, D., Richardson, A., Snowden, J., Hardy, J., Mann, D., Hutton, M.Evidence of a founder effect in families with frontotemporal dementia that harbor the tau +16 splice mutation. Am. J. Med. Genet. 125B: 79-82, 2004. [PubMed: 14755449] [Full Text: https://doi.org/10.1002/ajmg.b.20083\]
  94. Pickering-Brown, S., Baker, M., Yen, S.-H., Liu, W.-K., Hasegawa, M., Cairns, N., Lantos, P. L., Rossor, M., Iwatsubo, T., Davies, Y., Allsop, D., Furlong, R., Owen, F., Hardy, J., Mann, D., Hutton, M.Pick's disease is associated with mutations in the tau gene. Ann. Neurol. 48: 859-867, 2000. [PubMed: 11117542]
  95. Pickering-Brown, S. M., Richardson, A. M. T., Snowden, J. S., McDonagh, A. M., Burns, A., Braude, W., Baker, M., Liu, W.-K., Yen, S.-H., Hardy, J., Hutton, M., Davies, Y., Allsop, D., Craufurd, D., Neary, D., Mann, D. M. A.Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene. Brain 125: 732-751, 2002. [PubMed: 11912108] [Full Text: https://doi.org/10.1093/brain/awf069\]
  96. Pittman, A. M., Myers, A. J., Abou-Sleiman, P., Fung, H. C., Kaleem, M., Marlowe, L., Duckworth, J., Leung, D., Williams, D., Kilford, L., Thomas, N., Morris, C. M., Dickson, D., Wood, N. W., Hardy, J., Lees, A. J., de Silva, R.Linkage disequilibrium fine mapping and haplotype association of the tau gene in progressive supranuclear palsy and corticobasal degeneration. J. Med. Genet. 42: 837-846, 2005. [PubMed: 15792962] [Full Text: https://doi.org/10.1136/jmg.2005.031377\]
  97. Pittman, A. M., Myers, A. J., Duckworth, J., Bryden, L., Hanson, M., Abou-Sleiman, P., Wood, N. W., Hardy, J., Lees, A. J., de Silva, R.The structure of the tau haplotype in controls and in progressive supranuclear palsy. Hum. Molec. Genet. 13: 1267-1274, 2004. [PubMed: 15115761] [Full Text: https://doi.org/10.1093/hmg/ddh138\]
  98. Poorkaj, P., Bird, T. D., Wijsman, E., Nemens, E., Garruto, R. M., Anderson, L., Andreadis, A., Wiederholt, W. C., Raskind, M., Schellenberg, G. D.Tau is a candidate gene for chromosome 17 frontotemporal dementia. Ann. Neurol. 43: 815-825, 1998. Note: Erratum: Ann. Neurol. 44: 428 only, 1998. [PubMed: 9629852] [Full Text: https://doi.org/10.1002/ana.410430617\]
  99. Poorkaj, P., Grossman, M., Steinbart, E., Payami, H., Sadovnick, A., Nochlin, D., Tabira, T., Trojanowski, J. Q., Borson, S., Galasko, D., Reich, S., Quinn, B., Schellenberg, G., Bird, T. D.Frequency of tau gene mutations in familial and sporadic cases of non-Alzheimer dementia. Arch. Neurol. 58: 383-387, 2001. [PubMed: 11255441] [Full Text: https://doi.org/10.1001/archneur.58.3.383\]
  100. Poorkaj, P., Kas, A., D'Souza, I., Zhou, Y., Pham, Q., Stone, M., Olson, M. V., Schellenberg, G. D.A genomic sequence analysis of the mouse and human microtubule-associated protein tau. Mammalian Genome 12: 700-712, 2001. [PubMed: 11641718] [Full Text: https://doi.org/10.1007/s00335-001-2044-8\]
  101. Poorkaj, P., Muma, N. A., Zhukareva, V., Cochran, E. J., Shannon, K. M., Hurtig, H., Koller, W. C., Bird, T. D., Trojanowski, J. Q., Lee, V. M.-Y., Schellenberg, G. D.An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype. Ann. Neurol. 52: 511-516, 2002. [PubMed: 12325083] [Full Text: https://doi.org/10.1002/ana.10340\]
  102. Poorkaj, P.Personal Communication. Seattle, Wash. 11/10/1998.
  103. Przybyla, M., van Eersel, J., van Hummel, A., van der Hoven, J., Sabale, M., Harasta, A., Muller, J., Gajwani, M., Prikas, E., Mueller, T., Stevens, C. H., Power, J., Housley, G. D., Karl, T., Kassiou, M., Ke, Y. D., Ittner, A., Ittner, L. M.Onset of hippocampal network aberration and memory deficits in P301S tau mice are associated with an early gene signature. Brain 143: 1889-1904, 2020. [PubMed: 32375177] [Full Text: https://doi.org/10.1093/brain/awaa133\]
  104. Quadros, A., Weeks, O. I., Ait-Ghezala, G.Role of tau in Alzheimer's dementia and other neurodegenerative diseases. J. Appl. Biomed. 5: 1-12, 2007.
  105. Rademakers, R., Cruts, M., van Broeckhoven, C.The role of tau (MAPT) in frontotemporal dementia and related tauopathies. Hum. Mutat. 24: 277-295, 2004. [PubMed: 15365985] [Full Text: https://doi.org/10.1002/humu.20086\]
  106. Rademakers, R., Dermaut, B., Peeters, K., Cruts, M., Heutink, P., Goate, A., Van Broeckhoven, C.Tau (MAPT) mutation arg406trp presenting clinically with Alzheimer disease does not share a common founder in western Europe. Hum. Mutat. 22: 409-411, 2003. [PubMed: 14517953] [Full Text: https://doi.org/10.1002/humu.10269\]
  107. Rademakers, R., Melquist, S., Cruts, M., Theuns, J., Del-Favero, J., Poorkaj, P., Baker, M., Sleegers, K., Crook, R., De Pooter, T., Bel Kacem, S., Adamson, J., and 15 others.High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy. Hum. Molec. Genet. 14: 3281-3292, 2005. [PubMed: 16195395] [Full Text: https://doi.org/10.1093/hmg/ddi361\]
  108. Rapoport, M., Dawson, H. N., Binder, L. I., Vitek, M. P., Ferreira, A.Tau is essential to beta-amyloid-induced neurotoxicity. Proc. Nat. Acad. Sci. 99: 6364-6369, 2002. [PubMed: 11959919] [Full Text: https://doi.org/10.1073/pnas.092136199\]
  109. Rauch, J. N., Luna, G., Guzman, E., Audouard, M., Challis, C., Sibih, YE., Leshuk, C., Hernandez, I., Wegmann, S., Hyman, B. T., Gradinaru, V., Kampmann, M., Kosik, K. S.LRP1 is a master regulator of tau uptake and spread. Nature 580: 381-385, 2020. [PubMed: 32296178] [Full Text: https://doi.org/10.1038/s41586-020-2156-5\]
  110. Reed, L. A., Grabowski, T. J., Schmidt, M. L., Morris, J. C., Goate, A., Solodkin, A., Van Hoesen, G. W., Schelper, R. L., Talbot, C. J., Wragg, M. A., Trojanowski, J. Q.Autosomal dominant dementia with widespread neurofibrillary tangles. Ann. Neurol. 42: 564-572, 1997. [PubMed: 9382467] [Full Text: https://doi.org/10.1002/ana.410420406\]
  111. Rizzu, P., Hinkle, D. A., Zhukareva, V., Bonifati, V., Severijnen, L.-A., Martinez, D., Ravid, R., Kamphorst, W., Eberwine, J. H., Lee, V. M.-Y., Trojanowski, J. Q., Heutink, P.DJ-1 colocalizes with tau inclusions: a link between parkinsonism and dementia. Ann. Neurol. 55: 113-118, 2004. [PubMed: 14705119] [Full Text: https://doi.org/10.1002/ana.10782\]
  112. Rizzu, P., Van Swieten, J. C., Joosse, M., Hasegawa, M., Stevens, M., Tibben, A., Niermeijer, M. F., Hillebrand, M., Ravid, R., Oostra, B. A., Goedert, M., van Duijn, C. M., Heutink, P.High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands. Am. J. Hum. Genet. 64: 414-421, 1999. [PubMed: 9973279] [Full Text: https://doi.org/10.1086/302256\]
  113. Roberson, E. D., Scearce-Levie, K., Palop, J. J., Yan, F., Cheng, I. H., Wu, T., Gerstein, H., Yu, G.-Q., Mucke, L.Reducing endogenous tau ameliorates amyloid beta-induced deficits in an Alzheimer's disease mouse model. Science 316: 750-754, 2007. [PubMed: 17478722] [Full Text: https://doi.org/10.1126/science.1141736\]
  114. Ros, R., Thobois, S., Streichenberger, N., Kopp, N., Sanchez, M. P., Perez, M., Hoenicka, J., Avila, J., Honnorat, J., de Yebenes, J. G.A new mutation of the tau gene, G303V, in early-onset familial progressive supranuclear palsy. Arch. Neurol. 62: 1444-1450, 2005. [PubMed: 16157753] [Full Text: https://doi.org/10.1001/archneur.62.9.1444\]
  115. Rossi, G., Gasparoli, E., Pasquali, C., Di Fede, G., Testa, D., Albanese, A., Bracco, F., Tagliavini, F.Progressive supranuclear palsy and Parkinson's disease in a family with a new mutation in the tau gene. (Letter) Ann. Neurol. 55: 448 only, 2004. [PubMed: 14991829] [Full Text: https://doi.org/10.1002/ana.20006\]
  116. Rosso, S. M., van Herpen, E., Deelen, W., Kamphorst, W., Severijnen, L.-A., Willemsen, R., Ravid, R., Niermeijer, M. F., Dooijes, D., Smith, M. J., Goedert, M., Heutink, P., van Swieten, J. C.A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease. Ann. Neurol. 51: 373-376, 2002. [PubMed: 11891833] [Full Text: https://doi.org/10.1002/ana.10140\]
  117. Saito, Y., Geyer, A., Sasaki, R., Kuzuhara, S., Nanba, E., Miyasaka, T., Suzuki, K., Murayama, S.Early-onset, rapidly progressive familial tauopathy with R406W mutation. Neurology 58: 811-813, 2002. [PubMed: 11889249] [Full Text: https://doi.org/10.1212/wnl.58.5.811\]
  118. SantaCruz, K., Lewis, J., Spires, T., Paulson, J., Kotilinek, L., Ingelsson, M., Guimaraes, A., DeTure, M., Ramsden, M., McGowan, E., Forster, C., Yue, M., Orne, J., Janus, C., Mariash, A., Kuskowski, M., Hyman, B., Hutton, M., Ashe, K. H.Tau suppression in a neurodegenerative mouse model improves memory function. Science 309: 476-481, 2005. [PubMed: 16020737] [Full Text: https://doi.org/10.1126/science.1113694\]
  119. Schneider, A., Biernat, J., von Bergen, M., Mandelkow, E., Mandelkow, E. M.Phosphorylation that detaches tau protein from microtubules (Ser262, Ser214) also protects it against aggregation into Alzheimer paired helical filaments. Biochemistry 38: 3549-3558, 1999. [PubMed: 10090741] [Full Text: https://doi.org/10.1021/bi981874p\]
  120. Seto-Salvia, N., Clarimon, J., Pagonabarraga, J., Pascual-Sedano, B., Campolongo, A., Combarros, O., Mateo, J. I., Regana, D., Martinez-Corral, M., Marquie, M., Alcolea, D., Suarez-Calvet, M., Molina-Porcel, L., Dols, O., Gomez-Isla, T., Blesa, R., Lleo, A., Kulisevsky, J.Dementia risk in Parkinson disease: disentangling the role of MAPT haplotypes. Arch. Neurol. 68: 359-364, 2011. [PubMed: 21403021] [Full Text: https://doi.org/10.1001/archneurol.2011.17\]
  121. Skipper, L., Wilkes, K., Toft, M., Baker, M., Lincoln, S., Hulihan, M., Ross, O. A., Hutton, M., Aasly, J., Farrer, M.Linkage disequilibrium and association of MAPT H1 in Parkinson disease. Am. J. Hum. Genet. 75: 669-677, 2004. [PubMed: 15297935] [Full Text: https://doi.org/10.1086/424492\]
  122. Sohn, P. D., Huang, C. T.-L., Yan, R., Fan, L., Tracy, T. E., Camargo, C. M., Montgomery, K. M., Arhar, T., Mok, S.-A., Freilich, R., Baik, J., He, M., Gong, S., Roberson, E. D., Karch, C. M., Gestwicki, J. E., Xu, K., Kosik, K. S., Gan, L.Pathogenic tau impairs axon initial segment plasticity and excitability homeostasis. Neuron 104: 458-470, 2019. [PubMed: 31542321] [Full Text: https://doi.org/10.1016/j.neuron.2019.08.008\]
  123. Sperfeld, A. D., Collatz, M. B., Baier, H., Palmbach, M., Storch, A., Schwarz, J., Tatsch, K., Reske, S., Joosse, M., Heutink, P., Ludolph, A. C.FTDP-17: an early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation. Ann. Neurol. 46: 708-715, 1999. [PubMed: 10553987] [Full Text: https://doi.org/10.1002/1531-8249(199911)46:5<708::aid-ana5>3.0.co;2-k]
  124. Spillantini, M. G., Murrell, J. R., Goedert, M., Farlow, M. R., Klug, A., Ghetti, B.Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. Proc. Nat. Acad. Sci. 95: 7737-7741, 1998. [PubMed: 9636220] [Full Text: https://doi.org/10.1073/pnas.95.13.7737\]
  125. Spillantini, M. G., Yoshida, H., Rizzini, C., Lantos, P. L., Khan, N., Rossor, M. N., Goedert, M., Brown, J.A novel tau mutation (N296N) in familial dementia with swollen achromatic neurons and corticobasal inclusion bodies. Ann. Neurol. 48: 939-943, 2000. [PubMed: 11117553] [Full Text: https://doi.org/10.1002/1531-8249(200012)48:6<939::aid-ana17>3.3.co;2-t]
  126. Spittaels, K., van den Haute, C., van Dorpe, J., Bruynseels, K., Vandezande, K., Laenen, I., Geerts, H., Mercken, M., Sciot, R., van Lommel, A., Loos, R., van Leuven, F.Prominent axonopathy in the brain and spinal cord of transgenic mice overexpressing four-repeat human tau protein. Am. J. Path. 155: 2153-2165, 1999. [PubMed: 10595944] [Full Text: https://doi.org/10.1016/S0002-9440(10)65533-2\]
  127. Spittaels, K., van den Haute, C., van Dorpe, J., Geerts, H., Mercken, M., Bruynseels, K., Lasrado, R., Vandezande, K., Laenen, I., Boon, T., van Lint, J., Vandenheede, J, Moechars, D., Loos, R., van Leuven, F.Glycogen synthase kinase-3-beta phosphorylates protein tau and rescues the axonopathy in the central nervous system of human four-repeat tau transgenic mice. J. Biol. Chem. 275: 41340-41349, 2000. [PubMed: 11007782] [Full Text: https://doi.org/10.1074/jbc.M006219200\]
  128. Stambolic, V., Ruel, L., Woodgett, J. R.Lithium inhibits glycogen synthase kinase-3 activity and mimics Wingless signalling in intact cells. Curr. Biol. 6: 1664-1668, 1996. Note: Erratum: Curr. Biol. 7: 196 only, 1997. [PubMed: 8994831] [Full Text: https://doi.org/10.1016/s0960-9822(02)70790-2\]
  129. Stamer, K., Vogel, R., Thies, E., Mandelkow, E., Mandelkow, E.-M.Tau blocks traffic of organelles, neurofilaments, and APP vesicles in neurons and enhances oxidative stress. J. Cell Biol. 156: 1051-1063, 2002. [PubMed: 11901170] [Full Text: https://doi.org/10.1083/jcb.200108057\]
  130. Stefansson, H., Helgason, A., Thorleifsson, G., Steinthorsdottir, V., Masson, G., Barnard, J., Baker, A., Jonasdottir, A., Ingason, A., Gudnadottir, V. G., Desnica, N., Hicks, A., and 15 others.A common inversion under selection in Europeans. Nature Genet. 37: 129-137, 2005. [PubMed: 15654335] [Full Text: https://doi.org/10.1038/ng1508\]
  131. Taniguchi, T., Doe, N., Matsuyama, S., Kitamura, Y., Mori, H., Saito, N., Tanaka, C.Transgenic mice expressing mutant (N279K) human tau show mutation dependent cognitive defects without neurofibrillary tangle formation. FEBS Lett. 579: 5704-5712, 2005. [PubMed: 16219306] [Full Text: https://doi.org/10.1016/j.febslet.2005.09.047\]
  132. Tatebayashi, Y., Miyasaka, T., Chui, D.-H., Akagi, T., Mishima, K., Iwasaki, K., Fujiwara, M., Tanemura, K., Murayama, M., Ishiguro, K., Planel, E., Sato, S., Hashikawa, T., Takashima, A.Tau filament formation and associative memory deficit in aged mice expressing mutant (R406W) human tau. Proc. Nat. Acad. Sci. 99: 13896-13901, 2002. [PubMed: 12368474] [Full Text: https://doi.org/10.1073/pnas.202205599\]
  133. Taylor, L. M., McMillan, P. J., Liachko, N. F., Strovas, T. J., Ghetti, B., Bird, T. D., Keene, C. D., Kraemer, B. C.Pathological phosphorylation of tau and TDP-43 by TTBK1 and TTBK2 drives neurodegeneration. Molec. Neurodegener. 13: 7, 2018. [PubMed: 29409526] [Full Text: https://doi.org/10.1186/s13024-018-0237-9\]
  134. Tesseur, I., van Dorpe, J., Bruynseels, K., Bronfman, F., Sciot, R., van Lommel, A., van Leuven, F.Prominent axonopathy and disruption of axonal transport in transgenic mice expressing human apolipoprotein E4 in neurons of brain and spinal cord. Am. J. Path. 157: 1495-1510, 2000. [PubMed: 11073810] [Full Text: https://doi.org/10.1016/S0002-9440(10)64788-8\]
  135. Tesseur, I., van Dorpe, J., Spittaels, K., van den Haute, C., Moechars, D., van Leuven, F.Expression of human apolipoprotein E4 in neurons causes hyperphosphorylation of protein tau in the brains of transgenic mice. Am. J. Path. 156: 951-964, 2000. [PubMed: 10702411] [Full Text: https://doi.org/10.1016/S0002-9440(10)64963-2\]
  136. Tobin, J. E., Latourelle, J. C., Lew, M. F., Klein, C., Suchowersky, O., Shill, H. A., Golbe, L. I., Mark, M. H., Growdon, J. H., Wooten, G. F., Racette, B. A., Perlmutter, J. S., and 33 others.Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study. Neurology 71: 28-34, 2008. [PubMed: 18509094] [Full Text: https://doi.org/10.1212/01.wnl.0000304051.01650.23\]
  137. Tsuboi, Y., Baker, M., Hutton, M. L., Uitti, R. J., Rascol, O., Delisle, M.-B., Soulages, X., Murrell, J. R., Ghetti, B., Yasuda, M., Komure, O., Kuno, S., Arima, K., Sunohara, N., Kobayashi, T., Mizuno, Y., Wszolek, Z. K.Clinical and genetic studies of families with the tau N279K mutation (FTDP-17). Neurology 59: 1791-1793, 2002. [PubMed: 12473774] [Full Text: https://doi.org/10.1212/01.wnl.0000038909.49164.4b\]
  138. van Swieten, J. C., Stevens, M., Rosso, S. M., Rizzu, P., Joosse, M., de Koning, I., Kamphorst, W., Ravid, R., Spillantini, M. G., Niermeijer, Heutink, P.Phenotypic variation in hereditary frontotemporal dementia with tau mutations. Ann. Neurol. 46: 617-626, 1999. [PubMed: 10514099] [Full Text: https://doi.org/10.1002/1531-8249(199910)46:4<617::aid-ana10>3.0.co;2-i]
  139. Varani, L., Hasegawa, M., Spillantini, M. G., Smith, M. J., Murrell, J. R., Ghetti, B., Klug, A., Goedert, M., Varani, G.Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17. Proc. Nat. Acad. Sci. 96: 8229-8234, 1999. [PubMed: 10393977] [Full Text: https://doi.org/10.1073/pnas.96.14.8229\]
  140. Verpillat, P., Camuzat, A., Hannequin, D., Thomas-Anterion, C., Puel, M., Belliard, S., Dubois, B., Didic, M., Michel, B.-F., Lacomblez, L., Moreaud, O., Sellal, F., Golfier, V., Campion, D., Clerget-Darpoux, F., Brice, A.Association between the extended tau haplotype and frontotemporal dementia. Arch. Neurol. 59: 935-939, 2002. [PubMed: 12056929] [Full Text: https://doi.org/10.1001/archneur.59.6.935\]
  141. Volz, A., Boyle, J. M., Cann, H. M., Cottingham, R. W., Orr, H. T., Ziegler, A.Report of the second international workshop in human chromosome 6. Genomics 21: 464-472, 1994. [PubMed: 8088851] [Full Text: https://doi.org/10.1006/geno.1994.1302\]
  142. Werber, E., Klein, C., Grunfeld, J., Rabey, J. M.Phenotypic presentation of frontotemporal dementia with parkinsonism-chromosome 17 type P301S in a patient of Jewish-Algerian origin. Mov. Disord. 18: 595-598, 2003. [PubMed: 12722177] [Full Text: https://doi.org/10.1002/mds.10401\]
  143. Whitwell, J. L., Jack, C. R., Jr., Boeve, B. F., Senjem, M. L., Baker, M., Ivnik, R. J., Knopman, D. S., Wszolek, Z. K., Petersen, R. C., Rademakers, R., Josephs, K. A.Atrophy patterns in IVS10+16, IVS10+3, N279K, S305N, P301L, and V337M MAPT mutations. Neurology 73: 1058-1065, 2009. [PubMed: 19786698] [Full Text: https://doi.org/10.1212/WNL.0b013e3181b9c8b9\]
  144. Wilhelmsen, K. C., Lynch, T., Pavlou, E., Higgins, M., Hygaard, T. G.Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22. Am. J. Hum. Genet. 55: 1159-1165, 1994. [PubMed: 7977375]
  145. Wszolek, Z. K., Pfeiffer, R. F., Bhatt, M. H., Schelper, R. L., Cordes, M., Snow, B. J., Rodnitzky, R. L., Wolters, E. C., Arwert, F., Calne, D. B.Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration. Ann. Neurol. 32: 312-320, 1992. [PubMed: 1416801] [Full Text: https://doi.org/10.1002/ana.410320303\]
  146. Wszolek, Z. K., Uitti, R. J., Hutton, M.A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration. (Letter) Neurology 54: 2028-2030, 2000. [PubMed: 10822460] [Full Text: https://doi.org/10.1212/wnl.54.10.2028\]
  147. Xu, J., Sato, S., Okuyama, S., Swan, R. J., Jacobsen, M. T., Strunk, E., Ikezu, T.Tau-tubulin kinase 1 enhances prefibrillar tau aggregation and motor neuron degeneration in P301L FTDP-17 tau-mutant mice. FASEB J. 24: 2904-2915, 2010. [PubMed: 20354135] [Full Text: https://doi.org/10.1096/fj.09-150144\]
  148. Yasuda, M., Kawamata, T., Komure, O., Kuno, S., D'Souza, I., Poorkaj, P., Kawai, J., Tanimukai, S., Yamamoto, Y., Hasegawa, H., Sasahara, M., Hazama, F., Schellenberg, G. D., Tanaka, C.A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration. Neurology 53: 864-868, 1999. [PubMed: 10489057] [Full Text: https://doi.org/10.1212/wnl.53.4.864\]
  149. Yasuda, M., Nakamura, Y., Kawamata, T., Kaneyuki, H., Maeda, K., Komure, O.Phenotypic heterogeneity within a new family with the MAPT P301S mutation. Ann. Neurol. 58: 920-928, 2005. [PubMed: 16240366] [Full Text: https://doi.org/10.1002/ana.20668\]
  150. Yasuda, M., Yokoyama, K., Nakayasu, T., Nishimura, Y., Matsui, M., Yokoyama, T., Miyoshi, K., Tanaka, C.A Japanese patient with frontotemporal dementia and parkinsonism by a tau P301S mutation. Neurology 55: 1224-1227, 2000. [PubMed: 11071507] [Full Text: https://doi.org/10.1212/wnl.55.8.1224\]
  151. Yoshida, H., Crowther, R. A., Goedert, M.Functional effects of tau gene mutations deltaN296 and N296H. J. Neurochem. 80: 548-551, 2002. [PubMed: 11906000] [Full Text: https://doi.org/10.1046/j.0022-3042.2001.00729.x\]
  152. Yoshiyama, Y., Higuchi, M., Zhang, B., Huang, S.-M., Iwata, N., Saido, T. C., Maeda, J., Suhara, T., Trojanowski, J. Q., Lee, V. M.-Y.Synapse loss and microglial activation precede tangles in a P301S tauopathy mouse model. Neuron 53: 337-351, 2007. Note: Erratum: Neuron 54: 343-344, 2007. [PubMed: 17270732] [Full Text: https://doi.org/10.1016/j.neuron.2007.01.010\]
  153. Zabetian, C. P., Hutter, C. M., Factor, S. A., Nutt, J. G., Higgins, D. S., Griffith, A., Roberts, J. W., Leis, B. C., Kay, D. M., Yearout, D., Montimurro, J. S., Edwards, K. L., Samii, A., Payami, H.Association analysis of MAPT H1 haplotype and subhaplotypes in Parkinson's disease. Ann. Neurol. 62: 137-144, 2007. [PubMed: 17514749] [Full Text: https://doi.org/10.1002/ana.21157\]
  154. Zarranz, J. J., Ferrer, I., Lezcano, E., Forcadas, M. I., Eizaguirre, B., Atares, B., Puig, B., Gomez-Esteban, J. C., Fernandez-Maiztegui, C., Rouco, I., Perez-Concha, T., Fernandez, M., Rodriguez, O., Rodriguez-Martinez, A. B., Martinez de Pancorbo, M., Pastor, P., Perez-Tur, J.A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease. Neurology 64: 1578-1585, 2005. [PubMed: 15883319] [Full Text: https://doi.org/10.1212/01.WNL.0000160116.65034.12\]
  155. Zhang, W., Tarutani, A., Newell, K. L., Murzin, A. G., Matsubara, T., Falcon, B., Vidal, R., Garringer, H. J., Shi, Y., Ikeuchi, T., Murayama, S., Ghetti, B., Hasegawa, M., Goedert, M., Scheres, S. H. W.Novel tau filament fold in corticobasal degeneration. Nature 580: 283-287, 2020. [PubMed: 32050258] [Full Text: https://doi.org/10.1038/s41586-020-2043-0\]
  156. Zhukareva, V., Mann, D., Pickering-Brown, S., Uryu, K., Shuck, T., Shah, K., Grossman, M., Miller, B. L., Hulette, C. M., Feinstein, S. C., Trojanowski, J. Q., Lee, V. M.-Y.Sporadic Pick's disease: a tauopathy characterized by a spectrum of pathological tau isoforms in gray and white matter. Ann. Neurol. 51: 730-739, 2002. [PubMed: 12112079] [Full Text: https://doi.org/10.1002/ana.10222\]
  157. Zody, M. C., Jiang, Z., Fung, H.-C., Antonacci, F., Hillier, L. W., Cardone, M. F., Graves, T. A., Kidd, J. M., Cheng, Z., Abouelleil, A., Chen, L., Wallis, J., Glasscock, J., Wilson, R. J., Reily, A. D., Duckworth, J., Ventura, M., Hardy, J., Warren, W. C., Eichler, E. E.Evolutionary toggling of the MAPT 17q21.31 inversion region. Nature Genet. 40: 1076-1083, 2008. [PubMed: 19165922] [Full Text: https://doi.org/10.1038/ng.193\]