Repeat expansion and autosomal dominant neurodegenerative disorders: Consensus and controversy

Expert Reviews in Molecular Medicine

Volumn 5, Issue 21, 2003, Pages 1-24

  Rudnicki, Dobrila D ^a   Margolis, Russell L ^b  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Program in Cellular and Molecular Medicine   (United States)

Author keywords

ataxia; expansion; Huntington's disease; maturation; neurodegeneration; polyglutamine; repeat; spinocerebellar; trinucleotide; triplet

Indexed keywords

NERVE PROTEIN; REPETITIVE DNA;

BIOLOGICAL MODEL; CHROMOSOME DISORDER; DEGENERATIVE DISEASE; DOMINANT GENE; GENETICS; HUMAN; MUTATION; REVIEW;

CHROMOSOME DISORDERS; DNA REPEAT EXPANSION; GENES, DOMINANT; HUMANS; MODELS, GENETIC; MODELS, NEUROLOGICAL; MUTATION; NERVE TISSUE PROTEINS; NEURODEGENERATIVE DISEASES;

EID: 0242608989     PISSN: 14623994     EISSN: None     Source Type: Journal    
DOI: 10.1017/S1462399403006598     Document Type: Review

References (214)

1. La Spada, A.R. et al. (1991) Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352, 77-79, PubMed: 2062380 (Pubitemid 21896702)
2. Ross, C.A. (1995) When more is less: pathogenesis of glutamine repeat neurodegenerative diseases. Neuron 15, 493-496, PubMed: 7546729
3. Rubinsztein, D.C. and Carmichael, J. (2003) Huntington's disease: molecular basis of neurodegeneration. Exp. Rev. Mol. Med. Vol. 5, 15 August
4. Schilling, G. et al. (1995) Expression of the Huntington's disease (IT15) protein product in HD patients. Hum Mol Genet 4, 1365-1371, PubMed: 7581375
5. Trottier, Y. et al. (1995) Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature 378, 403-406, PubMed: 7477379
6. Cooper, J.K. et al. (1998) Truncated N-terminal fragments of huntingtin with expanded glutamine repeats form nuclear and cytoplasmic aggregates in cell culture. Hum Mol Genet 7, 783-790, PubMed: 9536081 (Pubitemid 28221240)
7. Lunkes, A. and Mandel, J.L. (1998) A cellular model that recapitulates major pathogenic steps of Huntington's disease. Hum Mol Genet 7, 1355-1361, PubMed: 9700187 (Pubitemid 28429913)
8. Li, S.H. et al. (2000) Expression of huntingtinassociated protein-1 in neuronal cells implicates a role in neuritic growth. Mol Cell Neurosci 16, 168-183, PubMed: 10924259
9. Mangiarini, L. et al. (1996) Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell 87, 493-506, PubMed: 8898202 (Pubitemid 26374323)
10. Davies, S.W. et al. (1997) Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation. Cell 90, 537-548, PubMed: 9267033 (Pubitemid 27347243)
11. Hodgson, J.G. et al. (1999) A YAC mouse model for Huntington's disease with full-length mutant huntingtin, cytoplasmic toxicity, and selective striatal neurodegeneration. Neuron 23, 181-192, PubMed: 10402204 (Pubitemid 29262475)
12. Kim, M. et al. (1999) Mutant huntingtin expression in clonal striatal cells: dissociation of inclusion formation and neuronal survival by caspase inhibition. J Neurosci 19, 964-973, PubMed: 9920660 (Pubitemid 29066159)
13. Schilling, G. et al. (1999) Intranuclear inclusions and neuritic aggregates in transgenic mice expressing a mutant N-terminal fragment of huntingtin. Hum Mol Genet 8, 397-407, PubMed: 9949199 (Pubitemid 29097327)
14. Schilling, G. et al. (1999) Nuclear accumulation of truncated atrophin-1 fragments in a transgenic mouse model of DRPLA. Neuron 24, 275-286, PubMed: 10677044 (Pubitemid 29466165)
15. Luthi-Carter, R. et al. (2000) Decreased expression of striatal signaling genes in a mouse model of Huntington's disease. Hum Mol Genet 9, 1259-1271, PubMed: 10814708 (Pubitemid 30312475)
16. Yamamoto, A., Lucas, J.J. and Hen, R. (2000) Reversal of neuropathology and motor dysfunction in a conditional model of Huntington's disease. Cell 101, 57-66, PubMed: 10778856
17. Laforet, G.A. et al. (2001) Changes in cortical and striatal neurons predict behavioral and electrophysiological abnormalities in a transgenic murine model of Huntington's disease. J Neurosci 21, 9112-9123, PubMed: 11717344 (Pubitemid 33096854)
18. White, J.K. et al. (1997) Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion. Nat Genet 17, 404-410, PubMed: 9398841 (Pubitemid 27518388)
19. Levine, M.S. et al. (1999) Enhanced sensitivity to N-methyl-D-aspartate receptor activation in transgenic and knockin mouse models of Huntington's disease. J Neurosci Res 58, 515-532, PubMed: 10533044 (Pubitemid 29530435)
20. Shelbourne, P.F. et al. (1999) A Huntington's disease CAG expansion at the murine Hdh locus is unstable and associated with behavioural abnormalities in mice. Hum Mol Genet 8, 763-774, PubMed: 10196365 (Pubitemid 29189043)
21. Usdin, M.T. et al. (1999) Impaired synaptic plasticity in mice carrying the Huntington's disease mutation. Hum Mol Genet 8, 839-846, PubMed: 10196373 (Pubitemid 29189051)
22. Li, H. et al. (2000) Amino-terminal fragments of mutant huntingtin show selective accumulation in striatal neurons and synaptic toxicity. Nat Genet 25, 385-389, PubMed: 10932179 (Pubitemid 32983427)
23. Wheeler, V.C. et al. (2000) Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice. Hum Mol Genet 9, 503-513, PubMed: 10699173 (Pubitemid 30154008)
24. Lin, X., Cummings, C.J. and Zoghbi, H.Y. (1999) Expanding our understanding of polyglutamine diseases through mouse models. Neuron 24, 499-502, PubMed: 10595501
25. Jackson, G.R. et al. (1998) Polyglutamineexpanded human huntingtin transgenes induce degeneration of Drosophila photoreceptor neurons. Neuron 21, 633-642, PubMed: 9768849 (Pubitemid 28475514)
26. Warrick, J.M. et al. (1998) Expanded polyglutamine protein forms nuclear inclusions and causes neural degeneration in Drosophila. Cell 93, 939-949, PubMed: 9635424 (Pubitemid 28280788)
27. Fernandez-Funez, P. et al. (2000) Identification of genes that modify ataxin-1-induced neurodegeneration. Nature 408, 101-106, PubMed: 11081516
28. Kazemi-Esfarjani, P. and Benzer, S. (2000) Genetic suppression of polyglutamine toxicity in Drosophila. Science 287, 1837-1840, PubMed: 10710314 (Pubitemid 30143971)
29. Marsh, J.L. et al. (2000) Expanded polyglutamine peptides alone are intrinsically cytotoxic and cause neurodegeneration in Drosophila. Hum Mol Genet 9, 13-25, PubMed: 10587574 (Pubitemid 30145284)
30. Steffan, J.S. et al. (2001) Histone deacetylase inhibitors arrest polyglutamine-dependent neurodegeneration in Drosophila. Nature 413, 739-743, PubMed: 11607033 (Pubitemid 33009952)
31. Faber, P.W. et al. (1999) Polyglutamine-mediated dysfunction and apoptotic death of a Caenorhabditis elegans sensory neuron. Proc Natl Acad Sci USA 96, 179-184, PubMed: 9874792 (Pubitemid 29036073)
32. Satyal, S.H. et al. (2000) Polyglutamine aggregates alter protein folding homeostasis in Caenorhabditis elegans. Proc Natl Acad Sci USA 97, 5750-5755, PubMed: 10811890 (Pubitemid 30367470)
33. Parker, J.A. et al. (2001) Expanded polyglutamines in Caenorhabditis elegans cause axonal abnormalities and severe dysfunction of PLM mechanosensory neurons without cell death. Proc Natl Acad Sci USA 98, 13318-13323, PubMed: 11687635 (Pubitemid 33051360)
34. Duyao, M.P. et al. (1995) Inactivation of the mouse Huntington's disease gene homolog Hdh. Science 269, 407-410, PubMed: 7618107
35. Matilla, A. et al. (1997) The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1. Nature 389, 974-978, PubMed: 9353121 (Pubitemid 27485689)
36. Nasir, J. et al. (1995) Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes. Cell 81, 811-823, PubMed: 7774020
37. Zeitlin, S. et al. (1995) Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue. Nat Genet 11, 155-163, PubMed: 7550343
38. Wexler, N.S. et al. (1987) Homozygotes for Huntington's disease. Nature 326, 194-197, PubMed: 2881213 (Pubitemid 17056590)
39. Myers, R.H. et al. (1989) Homozygote for Huntington disease. Am J Hum Genet 45, 615-618, PubMed: 2535231 (Pubitemid 19261450)
40. Lang, A.E. et al. (1994) Homozygous inheritance of the Machado-Joseph disease gene. Ann Neurol 36, 443-447, PubMed: 8080254 (Pubitemid 24280068)
41. Quigley, C.A. et al. (1992) Complete deletion of the androgen receptor gene: definition of the null phenotype of the androgen insensitivity syndrome and determination of carrier status. J Clin Endocrinol Metab 74, 927-933, PubMed: 1347772
42. Yeh, S. et al. (2002) Generation and characterization of androgen receptor knockout (ARKO) mice: an in vivo model for the study of androgen functions in selective tissues. Proc Natl Acad Sci USA 99, 13498-13503, PubMed: 12370412 (Pubitemid 35215410)
43. Hilditch-Maguire, P. et al. (2000) Huntingtin: an iron-regulated protein essential for normal nuclear and perinuclear organelles. Hum Mol Genet 9, 2789-2797, PubMed: 11092755
44. Velier, J. et al. (1998) Wild-type and mutant huntingtins function in vesicle trafficking in the secretory and endocytic pathways. Exp Neurol 152, 34-40, PubMed: 9682010 (Pubitemid 28366964)
45. Kegel, K.B. et al. (2000) Huntingtin expression stimulates endosomal-lysosomal activity, endosome tubulation, and autophagy. J Neurosci 20, 7268-7278, PubMed: 11007884
46. Dragatsis, I., Levine, M.S. and Zeitlin, S. (2000) Inactivation of Hdh in the brain and testis results in progressive neurodegeneration and sterility in mice. Nat Genet 26, 300-306, PubMed: 11062468
47. Zuccato, C. et al. (2001) Loss of huntingtinmediated BDNF gene transcription in Huntington's disease. Science 293, 493-498, PubMed: 11408619 (Pubitemid 32679077)
48. Narain, Y. et al. (1999) A molecular investigation of true dominance in Huntington's disease. J Med Genet 36, 739-746, PubMed: 10528852 (Pubitemid 29462317)
49. Gervais, F.G. et al. (2002) Recruitment and activation of caspase-8 by the Huntingtininteracting protein Hip-1 and a novel partner Hippi. Nat Cell Biol 4, 95-105, PubMed: 11788820 (Pubitemid 34141474)
50. Santos, A.D. and Padlan, E.A. (2000) Does mRNA translation starting from an alternative initiation site contribute to the pathology of Huntington's disease? Med Hypotheses 54, 689-690, PubMed: 10859666 (Pubitemid 30326487)
51. Rankin, J., Wyttenbach, A. and Rubinsztein, D.C. (2000) Intracellular green fluorescent proteinpolyalanine aggregates are associated with cell death. Biochem J 348 Pt 1, 15-19, PubMed: 10794708 (Pubitemid 30312125)
52. Mhatre, A.N. et al. (1993) Reduced transcriptional regulatory competence of the androgen receptor in X-linked spinal and bulbar muscular atrophy. Nat Genet 5, 184-188, PubMed: 8252045 (Pubitemid 23293456)
53. Kazemi-Esfarjani, P., Trifiro, M.A. and Pinsky, L. (1995) Evidence for a repressive function of the long polyglutamine tract in the human androgen receptor: possible pathogenetic relevance for the (CAG)n-expanded neuronopathies. Hum Mol Genet 4, 523-527, PubMed: 7633399
54. Lieberman, A.P. et al. (2002) Altered transcriptional regulation in cells expressing the expanded polyglutamine androgen receptor. Hum Mol Genet 11, 1967-1976, PubMed: 12165558 (Pubitemid 34924907)
55. Nakamura, K. et al. (2001) SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum Mol Genet 10, 1441-1448, PubMed: 11448935 (Pubitemid 32684885)
56. Perutz, M.F. (1995) Glutamine repeats as polar zippers: their role in inherited neurodegenerative disease. Mol Med 1, 718-721, PubMed: 8612194
57. Stott, K. et al. (1995) Incorporation of glutamine repeats makes protein oligomerize: implications for neurodegenerative diseases. Proc Natl Acad Sci USA 92, 6509-6513, PubMed: 7604023
58. Scherzinger, E. et al. (1997) Huntingtin-encoded polyglutamine expansions form amyloid-like protein aggregates in vitro and in vivo. Cell 90, 549-558, PubMed: 9267034 (Pubitemid 27347244)
59. Chen, S. et al. (2002) Amyloid-like features of polyglutamine aggregates and their assembly kinetics. Biochemistry 41, 7391-7399, PubMed: 12044172 (Pubitemid 34602457)
60. Poirier, M.A. et al. (2002) Huntingtin spheroids and protofibrils as precursors in polyglutamine fibrilization. J Biol Chem 277, 41032-41037, PubMed: 12171927 (Pubitemid 35215693)
61. Green, H. (1993) Human genetic diseases due to codon reiteration: relationship to an evolutionary mechanism. Cell 74, 955-956, PubMed: 8104707 (Pubitemid 23289453)
62. Kahlem, P. et al. (1996) Peptides containing glutamine repeats as substrates for transglutaminase-catalyzed cross-linking: relevance to diseases of the nervous system. Proc Natl Acad Sci USA 93, 14580-14585, PubMed: 8962095 (Pubitemid 26419010)
63. Kahlem, P., Green, H. and Djian, P. (1998) Transglutaminase action imitates Huntington's disease: selective polymerization of Huntingtin containing expanded polyglutamine. Mol Cell 1, 595-601, PubMed: 9660943 (Pubitemid 128374695)
64. Kahlem, P., Green, H. and Djian, P. (1998) Transglutaminase as the agent of neurodegenerative diseases due to polyglutamine expansion. Pathol Biol (Paris) 46, 681-682, PubMed: 9885815 (Pubitemid 29018198)
65. Zainelli, G.M. et al. (2003) Transglutaminase cross-links in intranuclear inclusions in Huntington disease. J Neuropathol Exp Neurol 62, 14-24, PubMed: 12528814 (Pubitemid 36068889)
66. Chun, W. et al. (2001) Tissue transglutaminase does not contribute to the formation of mutant huntingtin aggregates. J Cell Biol 153, 25-34, PubMed: 11285271 (Pubitemid 34280191)
67. Skinner, P.J. et al. (1997) Ataxin-1 with an expanded glutamine tract alters nuclear matrixassociated structures. Nature 389, 971-974, PubMed: 9353120 (Pubitemid 27485688)
68. Paulson, H.L. et al. (1997) Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron 19, 333-344, PubMed: 9292723 (Pubitemid 27374232)
69. DiFiglia, M. et al. (1997) Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science 277, 1990-1993, PubMed: 9302293
70. Holmberg, M. et al. (1995) Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1. Hum Mol Genet 4, 1441-1445, PubMed: 7581386
71. Yvert, G. et al. (2001) SCA7 mouse models show selective stabilization of mutant ataxin-7 and similar cellular responses in different neuronal cell types. Hum Mol Genet 10, 1679-1692, PubMed: 11487572 (Pubitemid 32776298)
72. Garden, G.A. et al. (2002) Polyglutamineexpanded ataxin-7 promotes non-cellautonomous purkinje cell degeneration and displays proteolytic cleavage in ataxic transgenic mice. J Neurosci 22, 4897-4905, PubMed: 12077187 (Pubitemid 37465605)
73. Hayashi, Y. et al. (1998) Hereditary dentatorubral-pallidoluysian atrophy: detection of widespread ubiquitinated neuronal and glial intranuclear inclusions in the brain. Acta Neuropathol (Berl) 96, 547-552, PubMed: 9845282 (Pubitemid 28517646)
74. Huynh, D.P. et al. (1999) Expression of ataxin-2 in brains from normal individuals and patients with Alzheimer's disease and spinocerebellar ataxia 2. Ann Neurol 45, 232-241, PubMed: 9989626 (Pubitemid 29072370)
75. Koyano, S. et al. (1999) Neuronal intranuclear inclusions in spinocerebellar ataxia type 2: triplelabeling immunofluorescent study. Neurosci Lett 273, 117-120, PubMed: 10505630 (Pubitemid 29428121)
76. Koyano, S. et al. (2000) Neuronal intranuclear inclusions in spinocerebellar ataxia type 2. Ann Neurol 47, 550, PubMed: 10762173 (Pubitemid 30194618)
77. Li, S.H. and Li, X.J. (1998) Aggregation of Nterminal huntingtin is dependent on the length of its glutamine repeats. Hum Mol Genet 7, 777-782, PubMed: 9536080
78. Klockgether, T. and Evert, B. (1998) Genes involved in hereditary ataxias. Trends Neurosci 21, 413-418, PubMed: 9735950 (Pubitemid 28384559)
79. Klement, I.A. et al. (1998) Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. Cell 95, 41-53, PubMed: 9778246 (Pubitemid 28458023)
80. Perutz, M.F. (1999) Glutamine repeats and neurodegenerative diseases: molecular aspects. Trends Biochem Sci 24, 58-63, PubMed: 10098399 (Pubitemid 29346574)
81. Saudou, F. et al. (1998) Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions. Cell 95, 55-66, PubMed: 9778247
82. Gutekunst, C.A. et al. (1999) Nuclear and neuropil aggregates in Huntington's disease: relationship to neuropathology. J Neurosci 19, 2522-2534, PubMed: 10087066
83. Li, M. et al. (1998) Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy. Ann Neurol 44, 249-254, PubMed: 9708548 (Pubitemid 28374114)
84. Reddy, P.H. et al. (1998) Behavioural abnormalities and selective neuronal loss in HD transgenic mice expressing mutated full-length HD cDNA. Nat Genet 20, 198-202, PubMed: 9771716
85. Andreassen, O.A. et al. (2001) Creatine increase survival and delays motor symptoms in a transgenic animal model of Huntington's disease. Neurobiol Dis 8, 479-491, PubMed: 11447996 (Pubitemid 32566138)
86. Zhang, Y. et al. (2000) Parkin functions as an E2-dependent ubiquitin-protein ligase and promotes the degradation of the synaptic vesicleassociated protein, CDCrel-1. Proc Natl Acad Sci USA 97, 13354-13359, PubMed: 11078524
87. Katsuno, M. et al. (2002) Testosterone reduction prevents phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy. Neuron 35, 843-854, PubMed: 12372280
88. Sanchez, I., Mahlke, C. and Yuan, J. (2003) Pivotal role of oligomerization in expanded polyglutamine neurodegenerative disorders. Nature 421, 373-379, PubMed: 12540902 (Pubitemid 36157935)
89. Klunk, W.E., Pettegrew, J.W. and Abraham, D.J. (1989) Quantitative evaluation of congo red binding to amyloid-like proteins with a betapleated sheet conformation. J Histochem Cytochem 37, 1273-1281, PubMed: 2666510 (Pubitemid 19186029)
90. Heiser, V. et al. (2000) Inhibition of huntingtin fibrillogenesis by specific antibodies and small molecules: implications for Huntington's disease therapy. Proc Natl Acad Sci USA 97, 6739-6744, PubMed: 10829068 (Pubitemid 30412784)
91. Johnston, J.A., Ward, C.L. and Kopito, R.R. (1998) Aggresomes: a cellular response to misfolded proteins. J Cell Biol 143, 1883-1898, PubMed: 9864362 (Pubitemid 29022611)
92. Kopito, R.R. (2000) Aggresomes, inclusion bodies and protein aggregation. Trends Cell Biol 10, 524-530, PubMed: 11121744
93. Sapp, E. et al. (1997) Huntingtin localization in brains of normal and Huntington's disease patients. Ann Neurol 42, 604-612, PubMed: 9382472 (Pubitemid 27439023)
94. Muchowski, P.J. et al. (2002) Requirement of an intact microtubule cytoskeleton for aggregation and inclusion body formation by a mutant huntingtin fragment. Proc Natl Acad Sci USA 99, 727-732, PubMed: 11792857 (Pubitemid 34106578)
95. Bonifacino, J.S. and Weissman, A.M. (1998) Ubiquitin and the control of protein fate in the secretory and endocytic pathways. Annu Rev Cell Dev Biol 14, 19-57, PubMed: 9891777 (Pubitemid 29001448)
96. Voges, D., Zwickl, P. and Baumeister, W. (1999) The 26S proteasome: a molecular machine designed for controlled proteolysis. Annu Rev Biochem 68, 1015-1068, PubMed: 10872471 (Pubitemid 29449214)
97. Jesenberger, V. and Jentsch, S. (2002) Deadly encounter: ubiquitin meets apoptosis. Nat Rev Mol Cell Biol 3, 112-121, PubMed: 11836513
98. Cummings, C.J. et al. (1998) Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1. Nat Genet 19, 148-154, PubMed: 9620770 (Pubitemid 28248795)
99. Cummings, C.J. et al. (1999) Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamineinduced pathology in SCA1 mice. Neuron 24, 879-892, PubMed: 10624951 (Pubitemid 30017667)
100. Chai, Y. et al. (1999) Evidence for proteasome involvement in polyglutamine disease: localization to nuclear inclusions in SCA3/MJD and suppression of polyglutamine aggregation in vitro. Hum Mol Genet 8, 673-682, PubMed: 10072437 (Pubitemid 29139983)
101. Martin-Aparicio, E. et al. (2001) Proteasomaldependent aggregate reversal and absence of cell death in a conditional mouse model of Huntington's disease. J Neurosci 21, 8772-8781, PubMed: 11698589 (Pubitemid 33054841)
102. Muchowski, P.J. (2002) Protein misfolding, amyloid formation, and neurodegeneration: a critical role for molecular chaperones? Neuron 35, 9-12, PubMed: 12123602 (Pubitemid 34804316)
103. Mittoux, V. et al. (2002) Corticostriatopallidal neuroprotection by adenovirus-mediated ciliary neurotrophic factor gene transfer in a rat model of progressive striatal degeneration. J Neurosci 22, 4478-4486, PubMed: 12040055 (Pubitemid 37465664)
104. Wyttenbach, A. et al. (2002) Heat shock protein 27 prevents cellular polyglutamine toxicity and suppresses the increase of reactive oxygen species caused by huntingtin. Hum Mol Genet 11, 1137-1151, PubMed: 11978772 (Pubitemid 34521094)
105. Fink, A.L. (1999) Chaperone-mediated protein folding. Physiol Rev 79, 425-449, PubMed: 10221986 (Pubitemid 29210927)
106. Michels, A.A. et al. (1997) Hsp70 and Hsp40 chaperone activities in the cytoplasm and the nucleus of mammalian cells. J Biol Chem 272, 33283-33289, PubMed: 9407119 (Pubitemid 28023677)
107. Lee, D.H., Sherman, M.Y. and Goldberg, A.L. (1996) Involvement of the molecular chaperone Ydj1 in the ubiquitin-dependent degradation of short-lived and abnormal proteins in Saccharomyces cerevisiae. Mol Cell Biol 16, 4773-4781, PubMed: 8756635 (Pubitemid 26272131)
108. Bercovich, B. et al. (1997) Ubiquitin-dependent degradation of certain protein substrates in vitro requires the molecular chaperone Hsc70. J Biol Chem 272, 9002-9010, PubMed: 9083024 (Pubitemid 27154900)
109. Jana, N.R. et al. (2000) Polyglutamine lengthdependent interaction of Hsp40 and Hsp70 family chaperones with truncated N-terminal huntingtin: their role in suppression of aggregation and cellular toxicity. Hum Mol Genet 9, 2009-2018, PubMed: 10942430 (Pubitemid 30642666)
110. Kobayashi, Y. et al. (2000) Chaperones Hsp70 and Hsp40 suppress aggregate formation and apoptosis in cultured neuronal cells expressing truncated androgen receptor protein with expanded polyglutamine tract. J Biol Chem 275, 8772-8778, PubMed: 10722721 (Pubitemid 30180231)
111. Bailey, C.K. et al. (2002) Molecular chaperones enhance the degradation of expanded polyglutamine repeat androgen receptor in a cellular model of spinal and bulbar muscular atrophy. Hum Mol Genet 11, 515-523, PubMed: 11875046 (Pubitemid 34257488)
112. Muchowski, P.J. et al. (2000) Hsp70 and hsp40 chaperones can inhibit self-assembly of polyglutamine proteins into amyloid-like fibrils. Proc Natl Acad Sci USA 97, 7841-7846, PubMed: 10859365 (Pubitemid 30460735)
113. Warrick, J.M. et al. (1999) Suppression of polyglutamine-mediated neurodegeneration in Drosophila by the molecular chaperone HSP70. Nat Genet 23, 425-428, PubMed: 10581028
114. Cummings, C.J. et al. (2001) Over-expression of inducible HSP70 chaperone suppresses neuropathology and improves motor function in SCA1 mice. Hum Mol Genet 10, 1511-1518, PubMed: 11448943 (Pubitemid 32684893)
115. Chai, Y. et al. (1999) Analysis of the role of heat shock protein (Hsp) molecular chaperones in polyglutamine disease. J Neurosci 19, 10338-10347, PubMed: 10575031 (Pubitemid 30228041)
116. Sittler, A. et al. (2001) Geldanamycin activates a heat shock response and inhibits huntingtin aggregation in a cell culture model of Huntington's disease. Hum Mol Genet 10, 1307-1315, PubMed: 11406612 (Pubitemid 32600484)
117. Yamada, M., Tsuji, S. and Takahashi, H. (2002) Involvement of lysosomes in the pathogenesis of CAG repeat diseases. Ann Neurol 52, 498-503, PubMed: 12325080
118. Klionsky, D.J. and Ohsumi, Y. (1999) Vacuolar import of proteins and organelles from the cytoplasm. Annu Rev Cell Dev Biol 15, 1-32, PubMed: 10611955 (Pubitemid 32250369)
119. Ravikumar, B., Duden, R. and Rubinsztein, D.C. (2002) Aggregate-prone proteins with polyglutamine and polyalanine expansions are degraded by autophagy. Hum Mol Genet 11, 1107-1117, PubMed: 11978769 (Pubitemid 34521091)
120. Hackam, A.S. et al. (1998) The influence of huntingtin protein size on nuclear localization and cellular toxicity. J Cell Biol 141, 1097-1105, PubMed: 9606203 (Pubitemid 28265605)
121. Yvert, G. et al. (2000) Expanded polyglutamines induce neurodegeneration and trans-neuronal alterations in cerebellum and retina of SCA7 transgenic mice. Hum Mol Genet 9, 2491-2506, PubMed: 11030754
122. Lunkes, A. et al. (2002) Proteases acting on mutant huntingtin generate cleaved products that differentially build up cytoplasmic and nuclear inclusions. Mol Cell 10, 259-269, PubMed: 12191472 (Pubitemid 35007341)
123. Sun, B. et al. (2002) Polyglutamine repeat lengthdependent proteolysis of huntingtin. Neurobiol Dis 11, 111-122, PubMed: 12460551 (Pubitemid 35435679)
124. Dyer, R.B. and McMurray, C.T. (2001) Mutant protein in Huntington disease is resistant to proteolysis in affected brain. Nat Genet 29, 270-278, PubMed: 11600884 (Pubitemid 33096451)
125. Goldberg, Y.P. et al. (1996) Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract. Nat Genet 13, 442-449, PubMed: 8696339 (Pubitemid 26256618)
126. Wellington, C.L. et al. (1998) Caspase cleavage of gene products associated with triplet expansion disorders generates truncated fragments containing the polyglutamine tract. J Biol Chem 273, 9158-9167, PubMed: 9535906 (Pubitemid 28176206)
127. Sawa, A. et al. (1999) Increased apoptosis of Huntington disease lymphoblasts associated with repeat length-dependent mitochondrial depolarization. Nat Med 5, 1194-1198, PubMed: 10502825 (Pubitemid 29474426)
128. Chen, M. et al. (2000) Minocycline inhibits caspase-1 and caspase-3 expression and delays mortality in a transgenic mouse model of Huntington disease. Nat Med 6, 797-801, PubMed: 10888929 (Pubitemid 30469429)
129. Wellington, C.L. et al. (2002) Caspase cleavage of mutant huntingtin precedes neurodegeneration in Huntington's disease. J Neurosci 22, 7862-7872, PubMed: 12223539 (Pubitemid 35379091)
130. Sanchez, I. et al. (1999) Caspase-8 is required for cell death induced by expanded polyglutamine repeats. Neuron 22, 623-633, PubMed: 10197541 (Pubitemid 29159860)
131. Ellerby, L.M. et al. (1999) Cleavage of atrophin-1 at caspase site aspartic acid 109 modulates cytotoxicity. J Biol Chem 274, 8730-8736, PubMed: 10085113 (Pubitemid 29164670)
132. Goffredo, D. et al. (2002) Calcium-dependent cleavage of endogenous wild-type huntingtin in primary cortical neurons. J Biol Chem 277, 39594-39598, PubMed: 12200414 (Pubitemid 35190939)
133. Kim, Y.J. et al. (2001) Caspase 3-cleaved Nterminal fragments of wild-type and mutant huntingtin are present in normal and Huntington's disease brains, associate with membranes, and undergo calpain-dependent proteolysis. Proc Natl Acad Sci USA 98, 12784-12789, PubMed: 11675509 (Pubitemid 33020022)
134. Peters, M.F. et al. (1999) Nuclear targeting of mutant Huntingtin increases toxicity. Mol Cell Neurosci 14, 121-128, PubMed: 10479410 (Pubitemid 29444882)
135. Steffan, J.S. et al. (2000) The Huntington's disease protein interacts with p53 and CREB-binding protein and represses transcription. Proc Natl Acad Sci USA 97, 6763-6768, PubMed: 10823891 (Pubitemid 30412788)
136. Nucifora, F.C., Jr. et al. (2001) Interference by huntingtin and atrophin-1 with cbp-mediated transcription leading to cellular toxicity. Science 291, 2423-2428, PubMed: 11264541
137. Li, S.H. et al. (2002) Interaction of Huntington disease protein with transcriptional activator Sp1. Mol Cell Biol 22, 1277-1287, PubMed: 11839795
138. Dunah, A.W. et al. (2002) Sp1 and TAFII130 transcriptional activity disrupted in early Huntington's disease. Science 296, 2238-2243, PubMed: 11988536 (Pubitemid 34680312)
139. Shimohata, T. et al. (2000) Expanded polyglutamine stretches interact with TAFII130, interfering with CREB-dependent transcription. Nat Genet 26, 29-36, PubMed: 10973244
140. Boutell, J.M. et al. (1999) Aberrant interactions of transcriptional repressor proteins with the Huntington's disease gene product, huntingtin. Hum Mol Genet 8, 1647-1655, PubMed: 10441327 (Pubitemid 29423873)
141. Holbert, S. et al. (2001) The Gln-Ala repeat transcriptional activator CA150 interacts with huntingtin: neuropathologic and genetic evidence for a role in Huntington's disease pathogenesis. Proc Natl Acad Sci USA 98, 1811-1816, PubMed: 11172033 (Pubitemid 32165580)
142. Suhr, S.T. et al. (2001) Identities of sequestered proteins in aggregates from cells with induced polyglutamine expression. J Cell Biol 153, 283-294, PubMed: 11309410 (Pubitemid 34280215)
143. La Spada, A.R. et al. (2001) Polyglutamineexpanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7. Neuron 31, 913-927, PubMed: 11580893 (Pubitemid 32925279)
144. Okazawa, H. et al. (2002) Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell death. Neuron 34, 701-713, PubMed: 12062018 (Pubitemid 34628734)
145. Spektor, B.S. et al. (2002) Differential D1 and D2 receptor-mediated effects on immediate early gene induction in a transgenic mouse model of Huntington's disease. Brain Res Mol Brain Res 102, 118-128, PubMed: 12191502 (Pubitemid 34607750)
146. Taylor, J.P. and Fischbeck, K.H. (2002) Altered acetylation in polyglutamine disease: an opportunity for therapeutic intervention? Trends Mol Med 8, 195-197, PubMed: 12067622 (Pubitemid 34493631)
147. Hockly, E. et al. (2003) Suberoylanilide hydroxamic acid, a histone deacetylase inhibitor, ameliorates motor deficits in a mouse model of Huntington's disease. Proc Natl Acad Sci USA 100, 2041-2046, PubMed: 12576549 (Pubitemid 36254570)
148. Schapira, A.H. (1999) Mitochondrial involvement in Parkinson's disease, Huntington's disease, hereditary spastic paraplegia and Friedreich's ataxia. Biochim Biophys Acta 1410, 159-170, PubMed: 10076024 (Pubitemid 29078602)
149. Leonard, J.V. and Schapira, A.H. (2000) Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects. Lancet 355, 389-394, PubMed: 10665569
150. Beal, M.F. et al. (1993) Neurochemical and histologic characterization of striatal excitotoxic lesions produced by the mitochondrial toxin 3-nitropropionic acid. J Neurosci 13, 4181-4192, PubMed: 7692009 (Pubitemid 23299942)
151. Beal, M.F. et al. (1993) Age-dependent striatal excitotoxic lesions produced by the endogenous mitochondrial inhibitor malonate. J Neurochem 61, 1147-1150, PubMed: 7689641 (Pubitemid 23241258)
152. Panov, A.V. et al. (2002) Early mitochondrial calcium defects in Huntington's disease are a direct effect of polyglutamines. Nat Neurosci 5, 731-736, PubMed: 12089530 (Pubitemid 34827590)
153. Rubinsztein, D.C. (2002) Lessons from animal models of Huntington's disease. Trends Genet 18, 202-209, PubMed: 11932021 (Pubitemid 34273741)
154. (2001) A randomized, placebo-controlled trial of coenzyme Q10 and remacemide in Huntington's disease. Neurology 57, 397-404, PubMed: 11502903
155. Heiser, V. et al. (2002) Identification of benzothiazoles as potential polyglutamine aggregation inhibitors of Huntington's disease by using an automated filter retardation assay. Proc Natl Acad Sci USA 99 Suppl 4, 16400-16406, PubMed: 12200548 (Pubitemid 35470985)
156. Cepeda, C. et al. (2003) Transient and progressive electrophysiological alterations in the corticostriatal pathway in a mouse model of Huntington's disease. J Neurosci 23, 961-969, PubMed: 12574425 (Pubitemid 36206187)
157. Hurlbert, M.S. et al. (1999) Mice transgenic for an expanded CAG repeat in the Huntington's disease gene develop diabetes. Diabetes 48, 649-651, PubMed: 10078572 (Pubitemid 29106885)
158. Lin, C.H. et al. (2001) Neurological abnormalities in a knock-in mouse model of Huntington's disease. Hum Mol Genet 10, 137-144, PubMed: 11152661
159. von Horsten, S. et al. (2003) Transgenic rat model of Huntington's disease. Hum Mol Genet 12, 617-624, PubMed: 12620967
160. de Almeida, L.P. et al. (2002) Lentiviral-mediated delivery of mutant huntingtin in the striatum of rats induces a selective neuropathology modulated by polyglutamine repeat size, huntingtin expression levels, and protein length. J Neurosci 22, 3473-3483, PubMed: 11978824 (Pubitemid 37465753)
161. Zhuchenko, O. et al. (1997) Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1Avoltage-dependent calcium channel. Nat Genet 15, 62-69, PubMed: 8988170
162. Margolis, R.L. et al. (1997) cDNAs with long CAG trinucleotide repeats from human brain. Hum Genet 100, 114-122, PubMed: 9225980 (Pubitemid 27309665)
163. Ishikawa, K. et al. (2001) Cytoplasmic and nuclear polyglutamine aggregates in SCA6 Purkinje cells. Neurology 56, 1753-1756, PubMed: 11425948 (Pubitemid 32574581)
164. Ishikawa, K. et al. (1999) Abundant expression and cytoplasmic aggregations of [alpha]1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6. Hum Mol Genet 8, 1185-1193, PubMed: 10369863 (Pubitemid 29328986)
165. Piedras-Renteria, E.S. et al. (2001) Increased expression of alpha 1A Ca2+ channel currents arising from expanded trinucleotide repeats in spinocerebellar ataxia type 6. J Neurosci 21, 9185-9193, PubMed: 11717352 (Pubitemid 33096862)
166. Baloh, R.W. and Winder, A. (1991) Acetazolamide-responsive vestibulocerebellar syndrome: clinical and oculographic features. Neurology 41, 429-433, PubMed: 2006014
167. Bain, P.G. et al. (1992) Familial periodic cerebellar ataxia: a problem of cerebellar intracellular pH homeostasis. Ann Neurol 31, 147-154, PubMed: 1575453
168. Terwindt, G.M. et al. (1996) Familial hemiplegic migraine: a clinical comparison of families linked and unlinked to chromosome 19.DMG RG. Cephalalgia 16, 153-155, PubMed: 8734765 (Pubitemid 26166181)
169. Ophoff, R.A. et al. (1996) Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell 87, 543-552, PubMed: 8898206 (Pubitemid 26374327)
170. Jodice, C. et al. (1997) Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. Hum Mol Genet 6, 1973-1978, PubMed: 9302278 (Pubitemid 27460375)
171. Sinke, R.J. et al. (2001) Clinical and molecular correlations in spinocerebellar ataxia type 6: a study of 24 Dutch families. Arch Neurol 58, 1839-1844, PubMed: 11708993 (Pubitemid 33044252)
172. Yue, Q. et al. (1997) Progressive ataxia due to a missense mutation in a calcium-channel gene. Am J Hum Genet 61, 1078-1087, PubMed: 9345107 (Pubitemid 27492315)
173. Holmes, S.E. et al. (2001) A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. Nat Genet 29, 377-378, PubMed: 11694876 (Pubitemid 34326684)
174. Takeshima, H. et al. (2000) Junctophilins: a novel family of junctional membrane complex proteins. Mol Cell 6, 11-22, PubMed: 10949023
175. Margolis, R.L. et al. (2001) A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion. Ann Neurol 50, 373-380, PubMed: 11761463 (Pubitemid 32848740)
176. Walker, R.H. et al. (2002) Autosomal dominant chorea-acanthocytosis with polyglutaminecontaining neuronal inclusions. Neurology 58, 1031-1037, PubMed: 11940688 (Pubitemid 34298541)
177. Koob, M.D. et al. (1999) An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet 21, 379-384, PubMed: 10192387 (Pubitemid 29159573)
178. Vincent, J.B. et al. (2000) An unstable trinucleotide-repeat region on chromosome 13 implicated in spinocerebellar ataxia: a common expansion locus. Am J Hum Genet 66, 819-829, PubMed: 10712198 (Pubitemid 30470485)
179. Juvonen, V. et al. (2000) Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion. Ann Neurol 48, 354-361, PubMed: 10976642
180. Stevanin, G. et al. (2000) Are (CTG)n expansions at the SCA8 locus rare polymorphisms? Nat Genet 24, 213; author reply 215, PubMed: 10700167 (Pubitemid 30132185)
181. Silveira, I. et al. (2002) Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus. Arch Neurol 59, 623-629, PubMed: 11939898 (Pubitemid 34289967)
182. van Swieten, J.C. et al. (2003) A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]. Am J Hum Genet 72, 191-199, PubMed: 12489043 (Pubitemid 36056856)
183. Nemes, J.P. et al. (2000) The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1). Hum Mol Genet 9, 1543-1551, PubMed: 10888605 (Pubitemid 30386709)
184. Koob, M.D. et al. (1998) A 3' untranslated CTG repeat causes spinocerebellar ataxia type 8 (SCA8). Am J Hum Genet 63 (4), A9
185. Matsuura, T. et al. (2000) Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet 26, 191-194, PubMed: 11017075
186. Rasmussen, A. et al. (2001) Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10. Ann Neurol 50, 234-239, PubMed: 11506407 (Pubitemid 32738149)
187. Fujigasaki, H. et al. (2001) SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family. Ann Neurol 49, 117-121, PubMed: 11198281 (Pubitemid 32163015)
188. Srivastava, A.K. et al. (2001) Molecular and clinical correlation in five Indian families with spinocerebellar ataxia 12. Ann Neurol 50, 796-800, PubMed: 11761478 (Pubitemid 33116140)
189. Holmes, S.E. et al. (1999) Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12. Nat Genet 23, 391-392, PubMed: 10581021
190. Holmes, S.E. et al. (2001) SCA12: an unusual mutation leads to an unusual spinocerebellar ataxia. Brain Res Bull 56, 397-403, PubMed: 11719278 (Pubitemid 33062367)
191. O'Hearn, E. et al. (2001) SCA-12: Tremor with cerebellar and cortical atrophy is associated with a CAG repeat expansion. Neurology 56, 299-303, PubMed: 11171892 (Pubitemid 32144138)
192. Ross, C.A. et al. (1997) Huntington disease and the related disorder, dentatorubralpallidoluysian atrophy (DRPLA). Medicine (Baltimore) 76, 305-338, PubMed: 9352736 (Pubitemid 27451325)
193. Vonsattel, J.P. et al. (1985) Neuropathological classification of Huntington's disease. J Neuropathol Exp Neurol 44, 559-577, PubMed: 2932539
194. Brooks, B.P. and Fischbeck, K.H. (1995) Spinal and bulbar muscular atrophy: a trinucleotiderepeat expansion neurodegenerative disease. Trends Neurosci 18, 459-461, PubMed: 8545913
195. Sobue, G. et al. (1989) X-linked recessive bulbospinal neuronopathy. A clinicopathological study. Brain 112 ( Pt 1), 209-232, PubMed: 2917278 (Pubitemid 19056483)
196. Ikeuchi, T. et al. (1995) Dentatorubralpallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat. Ann Neurol 37, 769-775, PubMed: 7778850
197. Takahashi, H. et al. (1988) Hereditary dentatorubral-pallidoluysian atrophy: clinical and pathologic variants in a family. Neurology 38, 1065-1070, PubMed: 3386824
198. Subramony, S.H. and Vig, P.J.S. (1998) Clinical aspects of spinocerebellar ataxia 1. In Genetic Instabilities and Hereditary Neurological Diseases (Wells, R.D. and Warren, S.T., eds), pp. 231-240, Academic Press, San Diego
199. Robitaille, Y., Schut, L. and Kish, S.J. (1995) Structural and immunocytochemical features of olivopontocerebellar atrophy caused by the spinocerebellar ataxia type 1 (SCA-1) mutation define a unique phenotype. Acta Neuropathol (Berl) 90, 572-581, PubMed: 8615077
200. Geschwind, D.H. et al. (1997) The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia. Am J Hum Genet 60, 842-850, PubMed: 9106530 (Pubitemid 27146492)
201. Cancel, G. et al. (1997) Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. Hum Mol Genet 6, 709-715, PubMed: 9158145 (Pubitemid 27199064)
202. Estrada, R. et al. (1999) Spinocerebellar ataxia 2 (SCA2): morphometric analyses in 11 autopsies. Acta Neuropathol (Berl) 97, 306-310, PubMed: 10090679 (Pubitemid 29137281)
203. Paulson, H.L. (1998) Spinocerebellar ataxia type 3/Machado-Joseph disease. In Analysis of Triplet Repeat Disorders (Rubinsztein, D.C. and Hayden, M.R., eds), pp. 129-144, Bios, Oxford
204. David, G. et al. (1998) Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7). Hum Mol Genet 7, 165-170, PubMed: 9425222 (Pubitemid 28048530)
205. Martin, J.J. et al. (1994) On an autosomal dominant form of retinal-cerebellar degeneration: an autopsy study of five patients in one family. Acta Neuropathol (Berl) 88, 277-286, PubMed: 7839819
206. Zuhlke, C. et al. (2001) Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia. Eur J Hum Genet 9, 160-164, PubMed: 11313753 (Pubitemid 32237048)
207. Schols, L. et al. (1998) Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds. J Neurol Neurosurg Psychiatry 64, 67-73, PubMed: 9436730 (Pubitemid 28156540)
208. Ikeuchi, T. et al. (1997) Spinocerebellar ataxia type 6: CAG repeat expansion in alpha1A voltage-dependent calcium channel gene and clinical variations in Japanese population. Ann Neurol 42, 879-884, PubMed: 9403480 (Pubitemid 28008418)
209. Subramony, S.H. et al. (1996) Dominantly inherited cerebello-olivary atrophy is not due to a mutation at the spinocerebellar ataxia-I, Machado-Joseph disease, or Dentato-Rubro-Pallido-Luysian atrophy locus. Mov Disord 11, 174-180, PubMed: 8684388 (Pubitemid 26082785)
210. Day, J.W. et al. (2000) Spinocerebellar ataxia type 8: clinical features in a large family. Neurology 55, 649-657, PubMed: 10980728
211. Holmes, S.E. et al. (2002) SCA12. In Genetics of Movement Disorders (Pulst, S., ed.), pp. 121-132, Academic Press, San Diego
212. Margolis, R.L. (2002) The spinocerebellar ataxias: order emerges from chaos. Curr Neurol Neurosci Rep 2, 447-456, PubMed: 12169226
213. Tang, T.S. et al. (2003) Huntingtin and huntingtin-associated protein 1 influence neuronal calcium signaling mediated by inositol-(1,4,5) triphosphate receptor type 1. Neuron 39, 227-239, PubMed: 12873381
214. Fujigasaki, H. et al. (2001) CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia. Brain 124, 1939-1947, PubMed: 11571212 (Pubitemid 32945895)