Cytoplasmic and nuclear polyglutamine aggregates in SCA6 Purkinje cells

Neurology

Volumn 56, Issue 12, 2001, Pages 1753-1756

  Ishikawa, K ^a,b   Owada, K ^a   Ishida, K ^a,c   Fujigasaki, H ^a,d   Shun Li, M ^a   Tsunemi, T ^a   Ohkoshi, N ^e   Toru, S ^a,b   Mizutani, T ^d   Hayashi, M ^d   Arai, N ^d   Hasegawa, K ^f   Kawanami, T ^g   Kato, T ^g   Makifuchi, T ^h   Shoji, S ^e   Tanabe, T ^a,b   Mizusawa, Hidehiro ^a,b  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^b JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

^c TOHO UNIVERSITY   (Japan)

^d TOKYO METROPOLITAN NEUROLOGICAL HOSPITAL   (Japan)

^e UNIVERSITY OF TSUKUBA   (Japan)

^f KITASATO UNIVERSITY   (Japan)

^g YAMAGATA UNIVERSITY   (Japan)

^h National Saigata Medical Center   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA 1A CALCIUM CHANNEL PROTEIN; CYTOPLASM PROTEIN; POLYGLUTAMINE; UNCLASSIFIED DRUG;

ARTICLE; CELL NUCLEUS; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOPLASM; GRANULE CELL; HUMAN; HUMAN CELL; IMMUNOCYTOCHEMISTRY; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PURKINJE CELL; SPINOCEREBELLAR DEGENERATION;

EID: 0035954366     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.56.12.1753     Document Type: Article

References (10)

1. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha1A-voltage-dependent calcium channel
2. Japanese families with autosomal dominant cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1
3. Clinical, neuropathological, and molecular study in two families with spinocerebellar ataxia type 6 (SCA6)
4. Spinocerebellar ataxia type 6 mutation alters P-type calcium channel function
5. Abundant expression and cytoplasmic aggregations of alpha1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6
6. Are neuronal intranuclear inclusions the common neuropathology of tripletrepeat disorders with polyglutamine-repeat expansions?
7. Polyglutamine expansionas a pathological epitope in Huntington's disease and four dominant cerebellar ataxias
8. Recruitment and the role of nuclear localization in polyglutamine-mediated aggregation
9. Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human
10. Expanded polyglutamine stretches interact with TAFII 130, interfering with CREB-dependent transcription