Ataxin 1 and ataxin 3 in neuronal intranuclear inclusion disease

Annals of Neurology

Volumn 46, Issue 2, 1999, Pages 271-273

  Lieberman, Andrew P ^a   Trojanowski, John Q ^b   Leonard, Debra G B ^b   Chen, Ke Lian ^c   Barnett, Jeffrey L ^c   Leverenz, James B ^d   Bird, Thomas D ^d   Robitaille, Yves ^e   Malandrini, Alessandro ^f   Fischbeck, Kenneth H ^a  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c UNIVERSITY OF MICHIGAN HOSPITALS   (United States)

^d UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^e UNIVERSITÉ DE MONTRÉAL   (Canada)

^f UNIVERSITY OF SIENA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMINE; HUNTINGTIN; NUCLEAR PROTEIN; POLYAMINOACID; TRINUCLEOTIDE;

ADULT; AGED; ARTICLE; CELL AGGREGATION; CELL NUCLEUS INCLUSION BODY; CLINICAL ARTICLE; DEGENERATIVE DISEASE; FEMALE; HUMAN; HUMAN TISSUE; MALE; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT;

ADULT; AGED; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; INCLUSION BODIES; MALE; MIDDLE AGED; NERVE TISSUE PROTEINS; NEURODEGENERATIVE DISEASES; NUCLEAR PROTEINS; REPRESSOR PROTEINS; TRINUCLEOTIDE REPEATS;

EID: 0032837943     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(199908)46:2<271::AID-ANA21>3.0.CO;2-M     Document Type: Article

References (17)

1. Schuffler MD, Bird TD, Sumi M, Cook A. A familial neuronal disease presenting as intestinal pseudoobstruction. Gastroenterology 1978;75:889-898
2. Malandrini A, Fabrik GM, Cavallaro T, et al. Neuronal intranuclear inclusion disease: polymerase chain reaction and ultrastructural study of rectal biopsy specimen in a new case. Acta Neuropathol (Berl) 1996;91:215-218
3. Lieberman AP, Robitaille Y, Trojanowski JQ, et al. Polyglutamine-containing aggregates in neuronal intranuclear inclusion disease. Lancet 1998;351:884
4. Barnett JL, McDonnell WM, Appelman HD, Dobbins WO. Familial visceral neuropathy with neuronal intranuclear inclusions: diagnosis by rectal biopsy. Gastroenterology 1992; 102:684-091
5. Arrindell EL, Trobe JD, Sieving PA, Barnett JL. Pupillary and electroretinographic abnormalities in a family with neuronal intranuclear hyaline inclusion disease. Arch Ophthalmol 1991; 109:373-378
6. Davies, SW, Beardsall K, Turmaine M, et al. Are neuronal intranuclear inclusions the common neuropathology of triplet-repeat disorders with polyglutamine-repeat expansions? Lancet 1998;351:131-133
7. Paulson HL, Das AA, Crino PB, et al. Machado-Joseph disease gene product is a cytoplasmic protein widely expressed in brain. Ann Neurol 1997;41:453-462
8. Cummings CJ, Mancini MA, Antalfy B, et al. Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA 1. Nat Genet 1998; 19:148-154
9. Reddy PH, Williams M, Charles V, et al. Behavioural abnormalities and selective neuronal loss in HD transgenic mice expressing mutated full-length HD cDNA. Nat Genet 1998;20: 198-202
10. Orr HT, Chung MY, Banfi S, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1993;4:211-226
11. Kawaguchi Y, Okamoto T, Taniwaki M, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 1994;8:221-228
12. Banfi S, Servadio A, Chung M, et al. Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nat Genet 1994;7:513-520
13. Trottier Y, Devys D, Imbert G, et al. Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form. Nat Genet 1995;10:104-110
14. Klement IA, Skinner PJ, Kaytor MD, et al. Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. Cell 1998;95:41-53
15. Paulson HL, Perez MK, Trojanowski JQ, et al. Intranuclear aggregates of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron 1997;19:333-344
16. Perez MK, Paulson HL, Pendse SJ, et al. Recruitment and the role of nuclear localization in polyglutamine-mediated aggregation. J Cell Biol 1998;143:1457-1470
17. Leroy E, Boyer R, Auburger G, et al. The ubiquitin pathway in Parkinson's disease. Nature 1998;395:451-452