Regulation of tau isoform expression and dementia

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1739, Issue 2, 2005, Pages 104-115

  D'Souza, Ian ^a,b   Schellenberg, Gerard D ^a,b  

^a GERIATRIC RESEARCH EDUCATION AND CLINICAL CENTER   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

Author keywords

Dementia; Tau

Indexed keywords

ISOPROTEIN; TAU PROTEIN;

ALTERNATIVE RNA SPLICING; ALZHEIMER DISEASE; BINDING AFFINITY; CELL LOSS; CENTRAL NERVOUS SYSTEM; CORTICOBASAL DEGENERATION; DEMENTIA; EXON; FRONTOTEMPORAL DEMENTIA; GENE CONTROL; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; HUMAN; INTRON; MICROTUBULE; NERVE CELL; NERVE DEGENERATION; PATHOPHYSIOLOGY; PHENOTYPE; PICK PRESENILE DEMENTIA; PRIORITY JOURNAL; PROGRESSIVE SUPRANUCLEAR PALSY; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN STRUCTURE; REVIEW; RNA SPLICING;

ALTERNATIVE SPLICING; BASE SEQUENCE; DEMENTIA; GENE EXPRESSION REGULATION; HUMANS; MICROTUBULE-ASSOCIATED PROTEINS; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUTATION; NERVE TISSUE PROTEINS; PROTEIN ISOFORMS; TAU PROTEINS; TAUOPATHIES;

EID: 11144306360     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbadis.2004.08.009     Document Type: Review

References (117)

1. D. Couchie, A. Faivre-Bauman, J. Puymirat, J. Guilleminot, A. Tixier-Vidal, and J. Nunez Expression of microtubule-associated proteins during the early stages of neurite extension by brain neurons cultured in a defined medium J. Neurochem. 47 1986 1255 1261
2. A. Caceres, and K.S. Kosik Inhibition or neurite polarity by tau antisense oligonucleotides in primary cerebellar neurons Nature 343 1990 461 463
3. A. Ebneth, R. Godemann, K. Stamer, S. Illenberger, B. Trinczek, E.M. Mandelkow, and E. Mandelkow Overexpression of tau protein inhibits kinesin-dependent trafficking of vesicles, mitochondria, and endoplasmic reticulum: implications for Alzheimer's disease J. Cell Biol. 143 1998 777 794
4. E.M. Mandelkow, K. Stamer, R. Vogel, E. Thies, and E. Mandelkow Clogging of axons by tau, inhibition of axonal traffic and starvation of synapses Neurobiol. Aging 24 8 2003 1079 1085
5. C. Gonzalez-Billault, M. Engelke, E.M. Jimenez-Mateos, F. Wandosell, A. Caceres, and J. Avila Participation of structural microtubule-associated proteins (MAPs) in the development of neuronal polarity J. Neurosci. Res. 67 2002 713 719
6. M. Goedert, C.M. Wischik, R.A. Crowther, J.E. Walker, and A. Klug 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. Natl. Acad. Sci. U. S. A. 85 1988 4051 4055
7. M. Goedert, M.G. Spillantini, M.C. Rotier, J. Ulrich, and R.A. Crowther Cloning and sequencing of the cDNA encoding an isoform of microtubule-associated protein tau containing four tandem repeats: differential expression of tau protein mRNA's in human brain EMBO J. 8 1989 393 399
8. A. Andreadis, W.M. Brown, and K.S. Kosik Structure and Novel Exons of the Human-tau Gene Biochemistry 31 1992 10626 10633
9. K.S. Kosik, L.D. Orecchio, S. Bakalis, and R.L. Neve Developmentally regulated expression of specific tau sequences Neuron 2 1989 1389 1397
10. C. Janke, M. Beck, T. Stahl, M. Holzer, K. Brauer, V. Bigl, T. Arendt, Phylogenetic diversity of the expression of the microtubule-associated protein tau: implications for neurodegenerative disorders. Molecular Brain Research 68 (1-2) 119-128. 99.
11. V. Makrides, T.E. Shen, R. Bhatia, B.L. Smith, J. Thimm, R. Lal, and S.C. Feinstein Microtubule-dependent oligomerization of tau-implications for physiological tau function and tauopathies J. Biol. Chem. 278 35 2003 33298 33304
12. D. Panda, J.C. Samuel, M. Massie, S.C. Feinstein, and L. Wilson Differential regulation of microtubule dynamics by three- and four-repeat tau: implications for the onset of neurodegenerative disease Proc. Natl. Acad. Sci. U. S. A. 100 16 2003 9548 9553
13. J.M. Bunker, L. Wilson, M.A. Jordan, and S.C. Feinstein Modulation of microtubule dynamics by tau in living cells: implications for development and neurodegeneration Mol. Biol. Cell 15 2004 2720 2728
14. J. Avila, J. Dominguez, and J. Diaz-Nido Regulation of microtubule dynamics by microtubule-associated protein expression and phosphorylation during neuronal development Int. J. Dev. Biol. 38 1994 13 25
15. B.H. Anderton, J. Betts, W.P. Blackstock, J.P. Brion, S. Chapman, J. Connell, R. Dayanandan, J.M. Gallo, G. Gibb, D.P. Hanger, M. Hutton, E. Kardalinou, K. Leroy, S. Lovestone, T. Mack, C.H. Reynolds, and M. Van Slegtenhorst Sites of phosphorylation in tau and factors affecting their regulation Biochem. Soc. Symp. 2001 73 80
16. E. Sontag, V. Nunbhakdi-Craig, G. Lee, R. Brandt, C. Kamibayashi, J. Kuret, C.L. White, M.C. Mumby, and G.S. Bloom Molecular interactions among protein phosphatase 2A, tau, and microtubules-implications for the regulation of tau phosphorylation and the development of tauopathies J. Biol. Chem. 274 1999 25490 25498
17. H.Q. Xie, J.M. Litersky, J.A. Hartigan, R.S. Jope, G.V.W. Johnson, The interrelationship between selective tau phosphorylation and microtubule association. Brain Research 798 (1-2) 173-183. 98.
18. G.T. Bramblett, M. Goedert, R. Jakes, S.E. Merrick, J.Q. Trojanowski, and V.M.Y. Lee Abnormal tau phosphorylation at Ser396 in Alzheimer's disease recapitulates development and contributes to reduced microtubule binding Neuron 10 1993 1089 1099
19. C.X. Gong, T. Lidsky, J. Wegiel, L. Zuck, I. Grundkeiqbal, and K. Iqbal Phosphorylation of microtubule-associated protein tau is regulated by protein phosphatase 2A in mammalian brain-implications for neurofibrillary degeneration in Alzheimer's disease J. Biol. Chem. 275 8 2000 5535 5544
20. L. Buee, T. Bussiere, V. Buee-Scherrer, A. Delacourte, and P.R. Hof Tau protein isoforms, phosphorylation and role in neurodegenerative disorders Brain Res. Rev. 33 2000 95 130
21. V.M.Y. Lee, M. Goedert, and J.Q. Trojanowski Neurodegenerative tauopathies Annu. Rev. Neurosci. 24 2001 1121 1159
22. P. Poorkaj, T.D. Bird, E. Wijsman, E. Nemens, R.M. Garruto, L. Anderson, A. Andreadis, W.C. Wiederholt, M. Raskind, and G.D. Schellenberg Tau is a candidate gene for chromosome 17 frontotemporal dementia Ann. Neurol. 43 1998 815 825
23. M. Hutton, C.L. Lendon, P. Rizzu, M. Baker, S. Froelich, H. Houlden, S. Pickering-Brown, S. Chakraverty, A. Isaacs, A. Grover, J. Hackett, J. Adamson, S. Lincoln, D. Dickson, P. Davies, R.C. Petersen, M. Stevens, E. de Graaff, E. Wauters, J. van Baren, M. Hillebrand, M. Joosse, J.M. Kwon, P. Nowotny, L.K. Che, J. Norton, J.C. Morris, L.A. Reed, J. Trojanowski, H. Basun, L. Lannfelt, M. Neystat, S. Fahn, F. Dark, T. Tannenberg, P.R. Dodd, N. Hayward, J.B.J. Kwok, P.R. Schofield, A. Andreadis, J. Snowden, D. Craufurd, D. Neary, F. Owen, B.A. Oostra, J. Hardy, A. Goate, J. van Swieten, D. Mann, T. Lynch, and P. Heutink Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17 Nature 393 1998 702 705
24. M.G. Spillantini, J.R. Murrell, M. Goedert, M.R. Farlow, A. Klug, and B. Ghetti Mutation in the tau gene in familial multiple system tauopathy with presenile dementia Proc. Natl. Acad. Sci. U. S. A. 95 1998 7737 7741
25. T.D. Bird, S.M. Sumi, E.J. Nemens, D. Nochlin, G. Schellenberg, T.H. Lampe, A. Sadovnick, H. Chui, G.W. Miner, and J. Tinklenberg Phenotypic heterogeneity in familial Alzheimer's disease: a study of 24 kindreds Ann. Neurol. 25 1989 12 25
26. N.L. Foster, K. Wilhelmsen, A.A.F. Sima, M.Z. Jones, C.J. D'Amato, S. Gilman, and Conference Participants Frontotemporal dementia and parkinsonsim linked to chromosome 17: a consensus conference Ann. Neurol. 41 1997 706 715
27. M.G. Spillantini, T.D. Bird, and B. Ghetti Frontotemporal dementia and parkinsonism linked to chromosome 17: a new group of tauopathies Brain Pathol. 8 1998 387 402
28. L tau mutation in a subject with a progressive supranuclear palsy phenotype Ann. Neurol. 52 2002 511 516
29. S. Hayashi, Y. Toyoshima, M. Hasegawa, Y. Umeda, K. Wakabayashi, S. Tokiguchi, T. Iwatsubo, and H. Takahashi Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation Ann. Neurol. 51 2002 525 530
30. M.G. Spillantini, R.A. Crowther, W. Kamphorst, P. Heutink, and J.C. Van Swieten Tau pathology in two Dutch families with mutations in the microtubule-binding region of tau Am. J. Pathol. 153 1998 1359 1363
31. C.F. Lippa, V. Zhukareva, T. Kawarai, K. Uryu, M. Shafiq, L.E. Nee, J. Grafman, Y. Liang, P.H. St George-Hyslop, J.Q. Trojanowski, and V.M.Y. Lee Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation Ann. Neurol. 48 2000 850 858
32. S.M. Pickering-Brown, M. Baker, T. Nonaka, K. Ikeda, S. Sharma, J. Mackenzie, S.A. Simpson, J.W. Moore, J.S. Snowden, R. de Silva, T. Revesz, M. Hasegawa, M. Hutton, and D.M. Mann Frontotemporal dementia with Pick-type histology associated with Q336R mutation in the tau gene Brain 127 2004 1415 1426
33. A. Grover, E. England, M. Baker, N. Sahara, J. Adamson, B. Granger, H. Houlden, U. Passant, S.H. Yen, M. DeTure, and M. Hutton A novel tau mutation in exon 9 (1260V) causes a four-repeat tauopathy Exp. Neurol. 184 2003 131 140
34. T. Kobayashi, S. Ota, K. Tanaka, Y. Ito, M. Hasegawa, Y. Umeda, Y. Motoi, M. Takanashi, M. Yasuhara, M. Anno, Y. Mizuno, and H. Mori A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology Ann. Neurol. 53 2003 133 137
35. S. Pickering-Brown, M. Baker, S.H. Yen, W.K. Liu, M. Hasegawa, N. Cairns, P.L. Lantos, M. Rossor, T. Iwatsubo, Y. Davies, D. Allsop, R. Furlong, F. Owen, J. Hardy, D. Mann, and M. Hutton Pick's disease is associated with mutations in the tau gene Ann. Neurol. 48 2000 859 867
36. J.R. Murrell, M.G. Spillantini, P. Zolo, M. Guazzelli, M.J. Smith, M. Hasegawa, F. Redi, R.A. Crowther, P. Pietrini, B. Ghetti, and M. Goedert Tau gene mutation G389R causes a tauopathy with abundant pick body-like inclusions and axonal deposits J. Neuropathol. Exp. Neurol. 58 1999 1207 1226
37. E. van Herpen, S.M. Rosso, L.A. Serverijnen, H. Yoshida, G. Breedveld, R. van de Graaf, W. Kamphorst, R. Ravid, R. Willemsen, D. Dooijes, D. Majoor-Krakauer, J.M. Kros, R.A. Crowther, M. Goedert, P. Heutink, and J.C. van Swieten Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315R Ann. Neurol. 54 2003 573 581
38. C. Rizzini, M. Goedert, J.R. Hodges, M.J. Smith, R. Jakes, R. Hills, J.H. Xuereb, R.A. Crowther, and M.G. Spillantini Tau gene mutation K257T causes a tauopathy similar to Pick's disease J. Neuropathol. Exp. Neurol. 59 2000 990 1001
39. S.M. Rosso, E. van Herpen, W. Deelen, W. Kamphorst, L.A. Severijnen, R. Willemsen, R. Ravid, M.F. Niermeijer, D. Dooijes, M.J. Smith, M. Goedert, P. Heutink, and J.C. van Swieten A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease Ann. Neurol. 51 2002 373 376
40. M. Neumann, W. Schulz-Schaeffer, A. Crowther, M. Smith, M.G. Spillantini, M. Goedert, and H.A. Kretzschmar Pick's disease associated with the novel tau gene mutation K369I Ann. Neurol. 50 2001 503 513
41. P. Pastor, E. Pastor, C. Carnero, R. Vela, T. Garcia, G. Amer, E. Tolosa, and R. Oliva Familial atypical progressive supranuclear palsy associated with homozygosity for the delN296 mutation in the tau gene Ann. Neurol. 49 2001 263 267
42. M.G. Spillantini, H. Yoshida, C. Rizzini, P.L. Lantos, N. Khan, M.N. Rossor, M. Goedert, and J. Brown A novel tau mutation (N296N) in familial dementia with swollen achromatic neurons and corticobasal inclusion bodies Ann. Neurol. 48 2000 939 943
43. E. Iseki, T. Matsumura, W. Marui, H. Hino, T. Odawara, N. Sugiyama, K. Suzuki, H. Sawada, T. Arai, and K. Kosaka Familial frontotemporal dementia and parkinsonism with a novel N296H mutation in exon 10 of the tau gene and a widespread tau accumulation in the glial cells Acta Neuropathol. 102 2001 285 292
44. A. Grover, M. Deture, S.H. Yen, and M. Hutton Effects on splicing and protein function of three mutations in codon N296 of tau in vitro Neurosci. Lett. 323 2002 33 36
45. H. Yoshida, R.A. Crowther, and M. Goedert Functional effects of tau gene mutations Delta N296 and N296H J. Neurochem. 80 2002 548 551
46. J.C. van Swieten, M. Stevens, S. M. Rosso, P. Rizzu, M. Joosse, I. Dekoning, W. Kamphorst, R. Ravid, M. G. Spillantini, M. F. Niermeijer, P. Heutink. Phenotypic variation in hereditary frontotemporal dementia with tau mutations. Annals of Neurology 46 (4), 617-626. 99.
47. C. Dumanchin, A. Camuzat, D. Campion, P. Verpillat, D. Hannequin, B. Dubois, P. Saugierveber, C. Martin, C. Penet, F. Charbonnier, Y. Agid, T. Frebourg, and A. Brice Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism Hum. Mol. Genet. 7 1998 1825 1829
48. O. Bugiani, J.R. Murrell, G. Giaccone, M. Hasegawa, G. Ghigo, M. Tabaton, M. Morbin, A. Primavera, F. Carella, C. Solaro, M. Grisoli, M. Savoiardo, M.G. Spillantini, F. Tagliavini, M. Goedert, and B. Ghetti Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau J. Neuropathol. Exp. Neurol. 58 1999 667 677
49. P. Rizzu, M. Joosse, R. Ravid, A. Hoogeveen, W. Kamphorst, J.C. van Swieten, R. Willemsen, and P. Heutink Mutation-dependent aggregation of tau protein and its selective depletion from the soluble fraction in brain of P301L FTDP-17 patients Hum. Mol. Genet. 9 2000 3075 3082
50. T. Miyasaka, M. Morishimakawashima, R. Ravid, P. Heutink, J.C. Vanswieten, K. Nagashima, and Y. Ihara Molecular analysis of mutant and wild-type tau deposited in the brain affected by the FTDP-17 R406W mutation Am. J. Pathol. 158 2 2001 373 379
51. I. D'Souza, P. Poorkaj, M. Hong, D. Nochlin, V.M.Y. Lee, T.D. Bird, and G.D. Schellenberg Missense and silent tau gene mutations cause front temporal dementia with parkinsonism-chromosome 17 type by affecting multiple alternative RNA splicing regulatory elements Proc. Natl. Acad. Sci. U. S. A. 96 1999 5598 5603
52. A. Grover, H. Houlden, M. Baker, J. Adamson, J. Lewist, G. Prihart, S. Pickering-Brown, K. Duff, and M. Hutton 5' splice mutations in tau associated with the inherited dementia FTDP-17 affect a stem-loop structure that regulates alternative splicing of exon 10 J. Biol. Chem. 274 1999 15134 15143
53. M. Hasegawa, M.J. Smith, M. Iijima, T. Tabira, and M. Goedert FTDP-17 mutations N279K and S305N in tau produce increased splicing of exon 10 FEBS Lett. 443 1999 93 96
54. M. Yasuda, J. Takamatsu, I. D'Souza, R.A. Crowther, T. Kawamata, M. Hasegawa, H. Hasegawa, M.G. Spillantini, S. Tanimukai, P. Poorkaj, L. Varani, G. Varani, T. Iwatsubo, M. Goedert, G.D. Schellenberg, and C. Tanaka A novel mutation at position +12 in the intron following exon 10 of the tau gene in familial frontotemporal dementia (FTD-Kumamoto) Ann. Neurol. 47 2000 422 429
55. L.N. Clark, P. Poorkaj, Z. Wszolek, D.H. Geschwind, Z.S. Nasreddine, B. Miller, D. Li, H. Payami, F. Awert, K. Markopoulou, A. Andreadis, I. D'Souza, V.M.Y. Lee, L. Reed, J.Q. Trojanowski, V. Zhukareva, T. Bird, G.D. Schellenberg, and K.C. Wilhelmsen Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17 Proc. Natl. Acad. Sci. U. S. A. 95 1998 13103 13107
56. P.M. Stanford, G.M. Halliday, W.S. Brooks, B.J. Kwok, C.E. Storet, H. Creasey, J.G.L. Morris, M.J. Fulham, and P.R.j. Schofield Progressive supranuclear palsy caused by a novel silent mutation in exon 10 of the tau gene Brain 123 2000 880 893
57. P.M. Stanford, C.E. Shepherd, G.M. Halliday, W.S. Brooks, P.W. Schofield, H. Brodaty, R.N. Martins, J.B.J. Kwok, and P.R. Schofield Mutations in the tau gene that cause an increase in three repeat tau and frontotemporal dementia Brain 126 2003 814 826
58. Q.S. Gao, J. Memmott, R. Lafyatis, S. Stamm, G. Screaton, and A. Andreadis Complex regulation of tau exon 10, whose missplicing causes frontotemporal dementia J. Neurochem. 74 2 2000 490 500
59. K. Miyamoto, A. Kowalska, M. Hasegawa, T. Tabira, K. Takahashi, W. Araki, I. Akiguchi, and A. Ikemoto Familial frontotemporal dementia and parkinsonism with a novel mutation at the intron 10+11- splice site in the tau gene Ann. Neurol. 50 2001 117 120
60. M. Iijima, T. Tabira, P. Poorkaj, G.D. Schellenberg, J.Q. Trojanowski, V.M.Y. Lee, M.L. Schmidt, K. Takahashi, T. Nabika, T. Matsumoto, Y. Yamashita, S. Yoshioka, and H. Isshino A distinct familial presenile dementia with a novel missense mutation in the tau gene NeuroReport 10 1999 497 501
61. L.A. Reed, M.L. Schmidt, Z.K. Wszolek, B.J. Balin, V. Soontornniyomkij, V.M.Y. Lee, J.Q. Trojanowski, and R.L. Schelper The neuropathology of a chromosome 17-linked autosomal dominant parkinsonism and dementia ("pallido-ponto-nigral degeneration") J. Neuropathol. Exp. Neurol. 57 1998 588 601
62. M. Goedert, M.G. Spillantini, R.A. Crowther, S.G. Chen, P. Parchi, M. Tabaton, D.J. Lanska, W.R. Markesbery, K.C. Wilhelmsen, D.W. Dickson, R.B. Petersen, P. Gambetti, Tau gene mutation in familial progressive subcortical gliosis. Nature Medicine 5 (4), 454-457. 99.
63. M. Hong, V. Zhukareva, V. Vogelsberg-Ragaglia, Z. Wszolek, L. Reed, B.I. Miller, D.H. Geschwind, T.D. Bird, D. McKeel, A. Goate, J.C. Morris, K.C. Wilhelmsen, G.D. Schellenberg, J.Q. Trojanowski, and V.M.Y. Lee Mutation-specific functional impairments in distinct Tau isoforms of hereditary FTDP-17 Science 282 1998 1914 1917
64. E.M. Ingram, and M.G. Spillantini Tau gene mutations: dissecting the pathogenesis of FTDP-17 Trends Mol. Med. 8 12 2002 555 562
65. M. Hutton Missense and splice site mutations in tau associated with FTDP-17: multiple pathogenic mechanisms Neurology 56 11 Suppl. 4 2001 S21 S25
66. P. Heutink Untangling tau-related dementia Hum. Mol. Genet. 9 2000 979 986
67. T. Lynch, M. Sano, K.S. Marder, K.L. Bell, N.L. Foster, R.F. Defendini, A.A.F. Sima, C. Keohane, T.G. Nygaard, S. Fahn, R. Mayeux, L.P. Rowland, and K.C. Wilhelmsen Clinical characteristics of a family with chromosome 17-linked disinhibition-dementia-parkinsonism-amyotrophic complex Neurology 44 1994 1878 1884
68. Z.S. Nasreddine, M. Loginov, L.N. Clark, J. Lamarche, B.L. Miller, A. Lamontagne, V. Zhukareva, V.M.Y. Lee, K.C. Wilhelmsen, and D.H. Geschwind From genotype to phenotype: A clinical, pathological, and biochemical investigation of frontotemporal dementia and parkinsonism (FTDP-17) caused by the P301L tau mutation Ann. Neurol. 45 1999 704 715
69. S.S. Mirra, J.R. Murrell, M. Gearing, M.G. Spillantini, M. Goedert, A. Crowther, A.I. Levey, R. Jones, J. Green, J.M. Shoffner, B.H. Wainer, M.L. Schmidt, J.Q. Trojanowski, and B. Ghetti Tau pathology in a family with dementia and a P301L mutation in tau J. Neuropathol. Exp. Neurol. 58 1999 335 345
70. T.D. Bird, D. Nochlin, P. Poorkaj, M. Cherrier, J. Kaye, H. Payami, E. Peskind, T.H. Lampe, E. Nemens, P.J. Boyer, and G.D. Schellenberg A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L) Brain 122 1999 741 756
71. S.M. Sumi, T.D. Bird, D. Nochlin, and M.A. Raskind Familial presenile dementia with psychosis associated with cortical neurofibrillary tangles and neurodegeneration of the amygdala Neurology 42 1992 120 127
72. A.D. Sperfeld, M.B. Collatz, H. Baier, M. Palmbach, A. Storch, J. Schwarz, K. Tatsch, S. Reske, M. Joosse, P. Heutink, and A.C. Ludolph FTDP-17: an early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation Ann. Neurol. 46 1999 708 715
73. K. Iqbal, A.D. Alonso, C.X. Gong, S. Khatoon, J.J. Pei, J.Z. Wang, I. Grundkeiqbal, Mechanisms of neurofibrillary degeneration and the formation of neurofibrillary tangles. Journal of Neural Transmission-Supplement (53) 169-180. 98.
74. S. Barghorn, and E. Mandelkow Toward a unified scheme for the aggregation of tau into Alzheimer paired helical filaments Biochemistry 41 50 2002 14885 14896
75. T.C. Gamblin, R.W. Berry, and L.I. Binder Tau polymerization: role of the amino terminus Biochemistry 42 7 2003 2252 2257
76. B.L. Goode, M. Chau, P.E. Denis, and S.C. Feinstein Structural and functional differences between 3-repeat and 4-repeat tau isoforms J. Biol. Chem. 275 2000 38182 38189
77. V. Makrides, M.R. Massie, S.C. Feinstein, and J. Lew Evidence for two distinct binding sites for tau on microtubules Proc. Natl. Acad. Sci. U. S. A. 101 2004 6746 6751
78. M. Lu, and K.S. Kosik Competition for microtubule-binding with dual expression of tau missense and splice isoforms Mol. Biol. Cell 12 1 2001 171 184
79. S. Barghorn, Q. Zheng-Fischhofer, M. Ackmann, J. Biernat, M. von Bergen, E.-M. Mandelkow, and E. Mandelkow Structure, microtubule interactions, and paired helical filament aggregation by tau mutants of frontotemporal dementias Biochemistry 39 2000 11714 11721
80. M. von Bergen, S. Barghorn, L. Li, A. Marx, J. Biernat, E.M. Mandelkow, and E. Mandelkow Mutations of tau protein in frontotemporal dementia promote aggregation of paired helical filaments by enhancing local beta-structure J. Biol. Chem. 276 51 2001 48165 48174
81. P. Nacharaju, J. Lewis, C. Easson, S. Yen, J. Hackett, M. Hutton, and S.H. Yen Accelerated filament formation from tau protein with specific FTDP-17 missense mutations FEBS Lett. 447 1999 195 199
82. M. Hogg, Z.M. Grujic, M. Baker, S. Demirci, A.L. Guillozet, A.P. Sweet, L.L. Herzog, S. Weintraub, M.M. Mesulam, N.E. LaPointe, T.C. Gamblin, R.W. Berry, L.I. Binder, R. deSilva, A. Lees, M. Espinoza, P. Davies, A. Grover, N. Sahara, T. Ishizawa, D. Dickson, S.H. Yen, M. Hutton, and E.H. Bigio The L266V tau mutation is associated with frontotemporal dementia and Pick-like 3R and 4R tauopathy Acta Neuropathol. 106 2003 323 336
83. S. Khatoon, I. Grundke-Iqbal, and K. Iqbal Brain levels of microtubule-associated protein tau are elevated in Alzheimer's disease: a radioimmuno-slot-blot assay for nanograms of the protein J. Neurochem. 59 1992 750 753
84. M. Goedert, S. Satumtira, R. Jakes, M.J. Smith, C. Kamibayashi, C.L. White, and E. Sontag Reduced binding of protein phosphatase 2A to tau protein with frontotemporal dementia and parkinsonism linked to chromosome 17 mutations J. Neurochem. 75 2000 2155 2162
85. V. Zhukareva, V. Vogelsberg-Ragaglia, V.M.D. Van Deerlin, J. Bruce, T. Shuck, M. Grossman, C.M. Clark, S.E. Arnold, E. Masliah, D. Galasko, J.Q. Trojanowski, and V.M.Y. Lee Loss of brain tau defines novel sporadic and familial tauopathies with frontotemporal dementia Ann. Neurol. 49 2001 165 175
86. V. Zhukareva, S. Sundarraj, D. Mann, M. Sjogren, K. Blenow, C.M. Clark, D.W. McKeel, A. Goate, C.F. Lippa, J.P. Vonsattel, J.H. Growdon, J.Q. Trojanowski, and V.M.Y. Lee Selective reduction of soluble Tau proteins in sporadic and familial frontotemporal dementias: an international follow-up study Acta Neuropathol. 105 2003 469 476
87. J. Wang, J.L. Manley, Regulation of pre-mRNA splicing in metazoa. Curr. Opin. Genet. Dev. 7, 205-211. 97.
88. D.L. Black, and P.J. Grabowski Alternative pre-mRNA splicing and neuronal function Prog. Mol. Subcell. Biol. 31 2003 187 216
89. C.J. Lee, and K. Irizarry Alternative splicing in the nervous system: An emerging source of diversity and regulation Biological Psychiatry 54 8 2003 771 776
90. S.M. Berget Exon recognition in vertebrate splicing J. Biol. Chem. 270 1995 2411 2414
91. R. Reed Initial splice-site recognition and pairing during pre-mRNA splicing Curr. Opin. Genet. Dev. 6 1996 215 220
92. D.L. Black Mechanisms of alternative pre-messenger RNA splicing Annual Review of Biochemistry 72 2003 291 336
93. Z. Zhou, L.J. Licklider, S.P. Gygi, and R. Reed Comprehensive proteomic analysis of the human spliceosome Nature 419 2002 182 185
94. L. Cartegni, S.L. Chew, and A.R. Krainer Listening to silence and understanding nonsense: exonic mutations that affect splicing Nat. Rev., Genet. 3 2002 285 298
95. N.A. Faustino, and T.A. Cooper Pre-mRNA splicing and human disease Genes Dev. 17 4 2003 419 437
96. B.L. Robberson, G.J. Cote, and S.M. Berget Exon definition may facilitate splice site selection in RNAs with multiple exons Mol. Cell. Biol. 10 1990 84 94
97. J.L. Manley, and R. Tacke SR proteins and splicing control Genes Dev. 10 1996 1569 1579
98. J.R. Sanford, D. Longman, and J.F. Caceres Multiple roles of the SR protein family in splicing regulation Prog. Mol. Subcell. Biol. 31 2003 33 58
99. R. Reed Mechanisms of fidelity in pre-mRNA splicing Curr. Opin. Cell Biol. 12 2000 340 345
100. J.D. Kohtz, S.F. Jamison, C.L. Will, P. Zuo, R. Luehrmann, M.A. Garcia-Blanco, and J.L. Manley Protein-protein interactions and 5′-splice site recognition in mammalian mRNA precursors Nature 368 1994 119 124
101. I. D'Souza, and G.D. Schellenberg Tau exon 10 expression involves a bipartite intron 10 regulatory sequence and a weak 3′ splice site J. Biol. Chem. 277 2002 26587 26599
102. I. D'Souza, and G.D. Schellenberg Determinants of 4 repeat tau expression: coordination between enhancing and inhibitory splicing sequences for exon 10 inclusion J. Biol. Chem. 275 2000 17700 17709
103. J.R. Murrell, D. Koller, T. Foroud, M. Goedert, M.G. Spillantini, H.J. Edenberg, M.R. Farlow, and B. Ghetti Familial multiple-system tauopathy with presenile dementia is localized to chromosome 17 Am. J. Hum. Genet. 61 1997 1131 1138
104. M. Vidaud, R. Gattoni, J. Stevenin, D. Vidaud, S. Amselem, J. Chibani, J. Rosa, and M. Goossens A 5′ splice-region G-C mutation in exon 1 of the human beta-globin gene inhibits pre-mRNA splicing: a mechanism for beta+-thalassemia Proc. Natl. Acad. Sci U. S. A. 86 1989 1041 1045
105. Z.H. Jiang, H. Tang, N. Havlioglu, X.C. Zhang, S. Stamm, R.Q. Yan, and J.Y. Wu Mutations in tau gene exon 10 associated with FTDP-17 alter the activity of an exonic splicing enhancer to interact with Tra2 beta J. Biol. Chem. 278 21 2003 18997 19007
106. M.L. Hastings, and A.R. Krainer Pre-mRNA splicing in the new millennium Curr. Opin. Cell Biol. 13 3 2001 302 309
107. Z.H. Jiang, J. Cote, J.M. Kwon, A.M. Goate, and J.Y. Wu Aberrant splicing of tau pre-mRNA caused by intronic mutations associated with the inherited dementia frontotemporal dementia with parkinsonism linked to chromosome 17 Mol. Cell. Biol. 20 2000 4036 4048
108. L. Varani, M. Hasegawa, M.G. Spillantini, M.J. Smith, J.R. Murrell, B. Ghetti, A. Klug, M. Goedert, and G. Varani Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17 Proc. Natl. Acad. Sci. U. S. A. 96 1999 8229 8234
109. P. Poorkaj, A. Kas, I. D'Souza, Y. Zhou, O. Pham, M.V. Olson, and G.D. Schellenberg A genomic sequence analysis of the mouse and human microtubule-associated protein tau Mamm. Genome 12 2001 700 712
110. S.H. Xiao, J.L. Manley, Phosphorylation-dephosphorylation differentially affects activities of splicing factor ASF/SF2. EMBO Journal 17 (21) 6359-6367. 98.
111. J.F. Caceres, G.R. Screaton, and A.R. Krainer A specific subset of SR proteins shuttles continuously between the nucleus and the cytoplasm Genes Dev. 12 1998 55 66
112. A. Hanamura, J.F. Caceres, A. Mayeda, B.R. Franza Jr., and A.R. Krainer Regulated tissue-specific expression of antagonistic pre-mRNA splicing factors RNA 4 1998 430 444
113. A.M. Hartmann, D. Rujescu, T. Giannakouros, E. Nikolakaki, M. Goedert, E.M. Mandelkow, Q.S. Gao, A. Andreadis, and S. Stamm Regulation of alternative splicing of human tau exon 10 by phosphorylation of splicing factors Mol.Cell. Neurosci. 18 2001 80 90
114. F. Hernandez, M. Perez, J.J. Lucas, A.M. Mata, R. Bhat, and J. Avila Glycogen synthase kinase-3 plays a crucial role in tau exon 10 splicing and intranuclear distribution of SC35-implications for Alzheimer's disease J. Biol. Chem. 279 5 2004 3801 3806
115. T. Misteli, RNA splicing: what has phosphorylation got to do with it? Current Biology 9 (6) R198+. 99.
116. J.J. Pei, T. Tanaka, Y.C. Tung, E. Braak, K. Iqbal, I. Grundkeiqbal, Distribution, levels, and activity of glycogen synthase kinase-3 in the Alzheimer disease brain, Journal of Neuropathology and Experimental Neurology 56 (1) 70-78. 97.
117. J.M. Stark, D.P. Bazett-Jones, M. Herfort, and M.B. Roth SR proteins are sufficient for exon bridging across an intron Proc. Natl. Acad. Sci. U. S. A. 95 1998 2163 2168