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Molecular pathogenesis of spinocerebellar ataxia type 1 disease

Authors
Kang, SeongmanHong, Sunghoi
Issue Date
6월-2009
Publisher
KOREAN SOC MOLECULAR & CELLULAR BIOLOGY
Keywords
aggregates; ataxin-1; cell therapy; cellular dysfunction; polyglutamine; protein interaction
Citation
MOLECULES AND CELLS, v.27, no.6, pp.621 - 627
Indexed
SCIE
SCOPUS
KCI
Journal Title
MOLECULES AND CELLS
Volume
27
Number
6
Start Page
621
End Page
627
URI
https://scholar.korea.ac.kr/handle/2021.sw.korea/119915
DOI
10.1007/s10059-009-0095-y
ISSN
1016-8478
Abstract
Spinocerebellar ataxia type 1 (SCA1) is an autosomal-dominant neurodegenerative disorder characterized by ataxia and progressive motor deterioration. SCA1 is associated with an elongated polyglutamine tract in ataxin-1, the SCA1 gene product. As summarized in this review, recent studies have clarified the molecular mechanisms of SCA1 pathogenesis and provided direction for future therapeutic approaches. The nucleus is the subcellular site where misfolded mutant ataxin-1 acts to cause SCA1 disease in the cerebellum. The role of these nuclear aggregates is the subject of intensive study. Additional proteins have been identified, whose conformational alterations occurring through interactions with the polyglutamine tract itself or non-polyglutamine regions in ataxin-1 are the cause of SCA-1 cytotoxicity. Therapeutic hope comes from the observations concerning the reduction of nuclear aggregation and alleviation of the pathogenic phenotype by the application of potent inhibitors and RNA interference.
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분자생명과학과
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