Access the full text.
Sign up today, get DeepDyve free for 14 days.
Loading next page...
/lp/springer-journals/nuclear-localization-or-inclusion-body-formation-of-ataxin-2-are-not-J3Jj6Z9nlK
References (51)
-
S. Kuemmerle, C. Gutekunst, A. Klein, Xiao-Jiang Li, Shihua Li, M. Beal, S. Hersch, R. Ferrante (1999)
Huntingtin aggregates may not predict neuronal death in Huntington's diseaseAnnals of Neurology, 46
-
J. Johnston, C. Ward, R. Kopito (1998)
Aggresomes: A Cellular Response to Misfolded ProteinsThe Journal of Cell Biology, 143
-
C. Lippa, Hideo Fujiwara, D. Mann, Benoit Giasson, M. Baba, M. Schmidt, L. Nee, Brendan O'Connell, D. Pollen, P. George-Hyslop, B. Ghetti, D. Nochlin, T. Bird, N. Cairns, V. Lee, T. Iwatsubo, J. Trojanowski (1998)
Lewy bodies contain altered alpha-synuclein in brains of many familial Alzheimer's disease patients with mutations in presenilin and amyloid precursor protein genes.The American journal of pathology, 153 5
-
D. Martindale, A. Hackam, A. Wieczorek, L. Ellerby, C. Wellington, K. McCutcheon, R. Singaraja, P. Kazemi-Esfarjani, R. Devon, Seung Kim, D. Bredesen, F. Tufaro, M. Hayden (1998)
Length of huntingtin and its polyglutamine tract influences localization and frequency of intracellular aggregatesNature Genetics, 18
-
I. Klement, P. Skinner, M. Kaytor, H. Yi, S. Hersch, H. Clark, H. Zoghbi, H. Orr (1998)
Ataxin-1 Nuclear Localization and Aggregation Role in Polyglutamine-Induced Disease in SCA1 Transgenic MiceCell, 95
-
T. Nechiporuk, D. Huynh, K. Figueroa, S. Sahba, A. Nechiporuk, S. Pulst (1998)
The mouse SCA2 gene: cDNA sequence, alternative splicing and protein expression.Human molecular genetics, 7 8
-
Yaohui Chai, S. Koppenhafer, Sarah Shoesmith, Matthew Perez, H. Paulson (1999)
Evidence for proteasome involvement in polyglutamine disease: localization to nuclear inclusions in SCA3/MJD and suppression of polyglutamine aggregation in vitro.Human molecular genetics, 8 4
-
Moon-Gone Kim, Hong Lee, G. Laforet, Charmian McIntyre, E. Martin, Patrick Chang, Tae-Wan Kim, Marie Williams, P. Reddy, D. Tagle, F. Boyce, L. Won, A. Heller, N. Aronin, M. Difiglia (1999)
Mutant Huntingtin Expression in Clonal Striatal Cells: Dissociation of Inclusion Formation and Neuronal Survival by Caspase InhibitionThe Journal of Neuroscience, 19
-
Gilles David, N. Abbas, G. Stevanin, A. Dürr, G. Yvert, G. Cancel, C. Weber, G. Imbert, F. Saudou, E. Antoniou, H. Drabkin, R. Gemmill, P. Giunti, A. Benomar, N. Wood, M. Ruberg, Y. Agid, J. Mandel, A. Brice (1997)
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansionNature Genetics, 17
-
É. Mezey, A. Dehejia, G. Harta, S. Suchy, R. Nussbaum, M. Brownstein, M. Polymeropoulos (1998)
Alpha synuclein is present in Lewy bodies in sporadic Parkinson's diseaseMolecular Psychiatry, 3
-
S. Igarashi, R. Koide, T. Shimohata, M. Yamada, Y. Hayashi, H. Takano, H. Date, M. Oyake, Toshiya Sato, A. Sato, S. Egawa, T. Ikeuchi, Hajime Tanaka, R. Nakano, Keiko Tanaka, I. Hozumi, T. Inuzuka, H. Takahashi, S. Tsuji (1998)
Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretchNature Genetics, 18
-
H. Shibata, D. Huynh, S. Pulst (2000)
A novel protein with RNA-binding motifs interacts with ataxin-2.Human molecular genetics, 9 9
-
O. Zhuchenko, J. Bailey, P. Bonnen, T. Ashizawa, D. Stockton, C. Amos, W. Dobyns, S. Subramony, H. Zoghbi, Cheng Lee (1997)
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channelNature Genetics, 15
-
Y. Kawaguchi, T. Okamoto, M. Taniwaki, M. Aizawa, M. Inoue, S. Katayama, H. Kawakami, Shigenobu Nakamura, M. Nishimura, I. Akiguchi, J. Kimura, S. Narumiya, A. Kakizuka (1994)
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1Nature Genetics, 8
-
A. Koeppen (1991)
The Purkinje Cell and its Afferents in Human Hereditary AtaxiaJournal of Neuropathology and Experimental Neurology, 50
-
H. Orr, M. Chung, S. Banfi, T. Kwiatkowski, A. Servadio, A. Beaudet, A. McCall, L. Duvick, L. Ranum, H. Zoghbi (1993)
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1Nature Genetics, 4
-
S. Davies, M. Turmaine, Barbara Cozens, A. Raza, A. Mahal, L. Mangiarini, G. Bates (1999)
From neuronal inclusions to neurodegeneration: neuropathological investigation of a transgenic mouse model of Huntington's disease.Philosophical transactions of the Royal Society of London. Series B, Biological sciences, 354 1386
-
C. Cummings, E. Reinstein, Yaling Sun, B. Antalffy, Yong-hui Jiang, A. Ciechanover, H. Orr, A. Beaudet, H. Zoghbi (1999)
Mutation of the E6-AP Ubiquitin Ligase Reduces Nuclear Inclusion Frequency While Accelerating Polyglutamine-Induced Pathology in SCA1 MiceNeuron, 24
-
C. Gutekunst, Shihua Li, Hong Yi, James Mulroy, S. Kuemmerle, Randi Jones, David Rye, R. Ferrante, S. Hersch, Xiao-Jiang Li (1999)
Nuclear and Neuropil Aggregates in Huntington’s Disease: Relationship to NeuropathologyThe Journal of Neuroscience, 19
-
I. Sánchez, Chi-jie Xu, P. Juo, Akira Kakizaka, J. Blenis, Junying Yuan (1999)
Caspase-8 Is Required for Cell Death Induced by Expanded Polyglutamine RepeatsNeuron, 22
-
S. Koyano, T. Uchihara, H. Fujigasaki, A. Nakamura, S. Yagishita, K. Iwabuchi (1999)
Neuronal intranuclear inclusions in spinocerebellar ataxia type 2: triple-labeling immunofluorescent studyNeuroscience Letters, 273
-
D. Huynh, M. Bigio, Diane Ho, S. Pulst (1999)
Expression of ataxin‐2 in brains from normal individuals and patients with Alzheimer's disease and spinocerebellar ataxia 2Annals of Neurology, 45
-
S. Pulst, A. Nechiporuk, T. Nechiporuk, S. Gispert, Xiao-Ning Chen, Í. Lopes-Cendes, Susan Pearlman, S. Starkman, Guillermo Orozco-Díaz, A. Lunkes, P. Dejong, G. Rouleau, G. Auburger, J. Korenberg, C. Figueroa, S. Sahba (1996)
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2Nature Genetics, 14
-
S. Kuemmerle, C. Gutekunst, A. Klein, X. Li, S. Li, M. Beal, S. Hersch, R. Ferrante (1999)
Huntington aggregates may not predict neuronal death in Huntington's disease.Annals of neurology, 46 6
-
C. Cummings, M. Mancini, B. Antalffy, D. DeFranco, H. Orr, H. Zoghbi (1998)
Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1Nature Genetics, 19
-
C. Wellington, L. Ellerby, A. Hackam, R. Margolis, M. Trifiro, R. Singaraja, K. McCutcheon, G. Salvesen, S. Propp, M. Bromm, Kathleen Rowland, Taiqi Zhang, D. Rasper, Sophie Roy, N. Thornberry, L. Pinsky, A. Kakizuka, C. Ross, D. Nicholson, D. Bredesen, M. Hayden (1998)
Caspase Cleavage of Gene Products Associated with Triplet Expansion Disorders Generates Truncated Fragments Containing the Polyglutamine Tract*The Journal of Biological Chemistry, 273
-
M. Holmberg, C. Duyckaerts, A. Durr, G. Cancel, I. Gourfinkel‐An, P. Damier, B. Faucheux, Y. Trottier, E. Hirsch, Y. Agid, A. Brice (1998)
Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions.Human molecular genetics, 7 5
-
Henry Paulson (1999)
Protein fate in neurodegenerative proteinopathies: polyglutamine diseases join the (mis)fold.American journal of human genetics, 64 2
-
P. Vig, S. Subramony, E. Burright, J. Fratkin, D. Mcdaniel, D. Desaiah, Z. Qin (1998)
Reduced immunoreactivity to calcium-binding proteins in Purkinje cells precedes onset of ataxia in spinocerebellar ataxia-1 transgenic miceNeurology, 50
-
K. Ishikawa, K. Ishikawa, H. Fujigasaki, H. Saegusa, Kiyoshi Ohwada, T. Fujita, H. Iwamoto, Y. Komatsuzaki, S. Toru, H. Toriyama, Masahiko Watanabe, N. Ohkoshi, S. Shoji, I. Kanazawa, T. Tanabe, HidehiroMizusawa (1999)
Abundant expression and cytoplasmic aggregations of [alpha]1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6.Human molecular genetics, 8 7
-
H. Paulson, Matthew Perez, Y. Trottier, J. Trojanowski, S. Subramony, S. Das, P. Vig, J. Mandel, K. Fischbeck, R. Pittman (1997)
Intranuclear Inclusions of Expanded Polyglutamine Protein in Spinocerebellar Ataxia Type 3Neuron, 19
-
G. Imbert, F. Saudou, G. Yvert, D. Devys, Y. Trottier, J. Garnier, C. Weber, J. Mandel, G. Cancel, N. Abbas, A. Dürr, O. Didierjean, G. Stevanin, Y. Agid, A. Brice (1996)
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeatsNature Genetics, 14
-
S. Davies, M. Turmaine, Barbara Cozens, M. Difiglia, A. Sharp, C. Ross, E. Scherzinger, E. Wanker, L. Mangiarini, G. Bates (1997)
Formation of Neuronal Intranuclear Inclusions Underlies the Neurological Dysfunction in Mice Transgenic for the HD MutationCell, 90
-
D. Stenoien, C. Cummings, Henry Adams, M. Mancini, K. Patel, G. Demartino, M. Marcelli, N. Weigel, M. Mancini (1999)
Polyglutamine-expanded androgen receptors form aggregates that sequester heat shock proteins, proteasome components and SRC-1, and are suppressed by the HDJ-2 chaperone.Human molecular genetics, 8 5
-
L. Mangiarini, K. Sathasivam, A. Mahal, R. Mott, M. Seller, G. Bates (1997)
Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutationNature Genetics, 15
-
P. Reddy, Maya Williams, V. Charles, L. Garrett, Lisa Pike-Buchanan, W. Whetsell, G. Miller, D. Tagle (1998)
Behavioural abnormalities and selective neuronal loss in HD transgenic mice expressing mutated full-length HD cDNANature Genetics, 20
-
Y. Trottier, G. Cancel, I. An-Gourfinkel, Y. Lutz, C. Weber, A. Brice, E. Hirsch, J. Mandel (1998)
Heterogeneous Intracellular Localization and Expression of Ataxin-3Neurobiology of Disease, 5
-
K. Sanpei, H. Takano, S. Igarashi, Toshiya Sato, M. Oyake, H. Sasaki, A. Wakisaka, K. Tashiro, Y. Ishida, T. Ikeuchi, R. Koide, M. Saito, A. Sato, Toshihisa Tanaka, S. Hanyu, Y. Takiyama, M. Nishizawa, N. Shimizu, Y. Nomura, M. Segawa, K. Iwabuchi, I. Eguchi, Hirosato Tanaka, H. Takahashi, S. Tsuji (1996)
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECTNature Genetics, 14
-
R. García-Mata, Z. Bebök, E. Sorscher, E. Sztul (1999)
Characterization and Dynamics of Aggresome Formation by a Cytosolic Gfp-Chimera✪The Journal of Cell Biology, 146
-
H. Clark, E. Burright, Wael Yunis, Seth Larson, Claire Wilcox, Boyd Hartman, A. Matilla, H. Zoghbi, H. Orr (1997)
Purkinje Cell Expression of a Mutant Allele of SCA1in Transgenic Mice Leads to Disparate Effects on Motor Behaviors, Followed by a Progressive Cerebellar Dysfunction and Histological AlterationsThe Journal of Neuroscience, 17
-
R. Koide, T. Ikeuchi, O. Onodera, Hidetomo Tanaka, S. Igarashi, K. Endo, H. Takahashi, R. Kondo, A. Ishikawa, T. Hayashi, M. Saito, A. Tomoda, T. Miike, H. Naito, F. Ikuta, S. Tsuji (1994)
Unstable expansion of CAG repeat in hereditary dentatorubral–pallidoluysian atrophy (DRPLA)Nature Genetics, 6
-
J. Cha, A. Frey, S. Alsdorf, J. Kerner, C. Kosinski, L. Mangiarini, J. Penney, S. Davies, G. Bates, A. Young (1999)
Altered neurotransmitter receptor expression in transgenic mouse models of Huntington's disease.Philosophical transactions of the Royal Society of London. Series B, Biological sciences, 354 1386
-
H. Ikeda, M. Yamaguchi, S. Sugai, Y. Aze, S. Narumiya, A. Kakizuka (1996)
Expanded polyglutamine in the Machado–Joseph disease protein induces cell death in vitro and in vivoNature Genetics, 13
-
E. Burright, H. Clark, A. Servadio, T. Matilla, R. Feddersen, Wael Yunis, L. Duvick, H. Zoghbi, H. Orr (1995)
SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeatCell, 82
-
Akhilesh Pandey, TU Agc, Francis Crick, La Spada (1991)
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophyNature, 352
-
S. Vandaele, D. Nordquist, R. Feddersen, Irene Tretjakoff, A. Peterson, H. Orr (1991)
Purkinje cell protein-2 regulatory regions and transgene expression in cerebellar compartments.Genes & development, 5 7
-
E. Scherzinger, R. Lurz, M. Turmaine, L. Mangiarini, B. Hollenbach, R. Hasenbank, G. Bates, S. Davies, H. Lehrach, E. Wanker (1997)
Huntingtin-Encoded Polyglutamine Expansions Form Amyloid-like Protein Aggregates In Vitro and In VivoCell, 90
-
F. Saudou, S. Finkbeiner, D. Devys, M. Greenberg (1998)
Huntingtin Acts in the Nucleus to Induce Apoptosis but Death Does Not Correlate with the Formation of Intranuclear InclusionsCell, 95
-
M. MacDonald, C. Ambrose, M. Duyao, R. Myers, Carol Lin, L. Srinidhi, G. Barnes, Sherryl Taylor, M. James, Nicolet Groot, Heather MacFarlane, B. Jenkins, M. Anderson, N. Wexler, J. Gusella, G. Bates, S. Baxendale, H. Hummerich, S. Kirby, M. North, S. Youngman, R. Mott, G. Zehetner, Z. Sedlacek, A. Poustka, A. Frischauf, H. Lehrach, A. Buckler, D. Church, L. Doucette-Stamm, M. O’Donovan, Laura Riba-Ramírez, Manish Shah, V. Stanton, S. Strobel, K. Draths, Jennifer Wales, P. Dervan, D. Housman, M. Altherr, R. Shiang, L. Thompson, T. Fielder, J. Wasmuth, D. Tagle, J. Valdes, Lon Elmer, M. Allard, L. Castilla, M. Swaroop, K. Blanchard, F. Collins, R. Snell, T. Holloway, Kathleen Gillespie, N. Datson, D. Shaw, P. Harper (1993)
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomesCell, 72
-
L. Mangiarini, K. Sathasivam, M. Seller, Barbara Cozens, Alex Harper, C. Hetherington, Martin Lawton, Y. Trottier, H. Lehrach, S. Davies, G. Bates (1996)
Exon 1 of the HD Gene with an Expanded CAG Repeat Is Sufficient to Cause a Progressive Neurological Phenotype in Transgenic MiceCell, 87
-
J. Hodgson, N. Agopyan, C. Gutekunst, B. Leavitt, F. LePiane, R. Singaraja, Desmond Smith, N. Bissada, K. McCutcheon, J. Nasir, L. Jamot, Xiao-Jiang Li, M. Stevens, Erica Rosemond, J. Roder, A. Phillips, E. Rubin, S. Hersch, M. Hayden (1999)
A YAC Mouse Model for Huntington’s Disease with Full-Length Mutant Huntingtin, Cytoplasmic Toxicity, and Selective Striatal NeurodegenerationNeuron, 23
- Publisher
- Springer Journals
- Copyright
- Copyright © 2000 by Nature America Inc.
- Subject
- Biomedicine; Biomedicine, general; Human Genetics; Cancer Research; Agriculture; Gene Function; Animal Genetics and Genomics
- ISSN
- 1061-4036
- eISSN
- 1546-1718
- DOI
- 10.1038/79162
- Publisher site
- See Article on Publisher Site
Abstract
Instability of CAG DNA trinucleotide repeats is the mutational mechanism for several neurodegenerative diseases resulting in the expansion of a polyglutamine (polyQ) tract. Proteins with long polyQ tracts have an increased tendency to aggregate, often as truncated fragments forming ubiquitinated intranuclear inclusion bodies. We examined whether similar features define spinocerebellar ataxia type 2 (SCA2) pathogenesis using cultured cells, human brains and transgenic mouse lines. In SCA2 brains, we found cytoplasmic, but not nuclear, microaggregates. Mice expressing ataxin-2 with Q58 showed progressive functional deficits accompanied by loss of the Purkinje cell dendritic arbor and finally loss of Purkinje cells. Despite similar functional deficits and anatomical changes observed in ataxin-1[Q80] transgenic lines, ataxin-2[Q58] remained cytoplasmic without detectable ubiquitination.
Journal
Nature Genetics – Springer Journals
Published: Sep 1, 2000