Molecular pathogenesis of spinocerebellar ataxia type 1 disease
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Kang, Seongman | - |
dc.contributor.author | Hong, Sunghoi | - |
dc.date.accessioned | 2021-09-08T16:28:43Z | - |
dc.date.available | 2021-09-08T16:28:43Z | - |
dc.date.created | 2021-06-10 | - |
dc.date.issued | 2009-06 | - |
dc.identifier.issn | 1016-8478 | - |
dc.identifier.uri | https://scholar.korea.ac.kr/handle/2021.sw.korea/119915 | - |
dc.description.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. | - |
dc.language | English | - |
dc.language.iso | en | - |
dc.publisher | KOREAN SOC MOLECULAR & CELLULAR BIOLOGY | - |
dc.subject | SCA1 GENE-PRODUCT | - |
dc.subject | NEURONAL INTRANUCLEAR INCLUSIONS | - |
dc.subject | POLYGLUTAMINE-PROTEIN AGGREGATION | - |
dc.subject | AMYLOID-LIKE FIBRILS | - |
dc.subject | HUNTINGTONS-DISEASE | - |
dc.subject | TRANSGENIC MICE | - |
dc.subject | CELL-DEATH | - |
dc.subject | CAG REPEAT | - |
dc.subject | MEDIATES NEURODEGENERATION | - |
dc.subject | TRANSCRIPTIONAL REPRESSION | - |
dc.title | Molecular pathogenesis of spinocerebellar ataxia type 1 disease | - |
dc.type | Article | - |
dc.contributor.affiliatedAuthor | Kang, Seongman | - |
dc.contributor.affiliatedAuthor | Hong, Sunghoi | - |
dc.identifier.doi | 10.1007/s10059-009-0095-y | - |
dc.identifier.wosid | 000267663600002 | - |
dc.identifier.bibliographicCitation | MOLECULES AND CELLS, v.27, no.6, pp.621 - 627 | - |
dc.relation.isPartOf | MOLECULES AND CELLS | - |
dc.citation.title | MOLECULES AND CELLS | - |
dc.citation.volume | 27 | - |
dc.citation.number | 6 | - |
dc.citation.startPage | 621 | - |
dc.citation.endPage | 627 | - |
dc.type.rims | ART | - |
dc.type.docType | Review | - |
dc.identifier.kciid | ART001350270 | - |
dc.description.journalClass | 1 | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.description.journalRegisteredClass | kci | - |
dc.relation.journalResearchArea | Biochemistry & Molecular Biology | - |
dc.relation.journalResearchArea | Cell Biology | - |
dc.relation.journalWebOfScienceCategory | Biochemistry & Molecular Biology | - |
dc.relation.journalWebOfScienceCategory | Cell Biology | - |
dc.subject.keywordPlus | SCA1 GENE-PRODUCT | - |
dc.subject.keywordPlus | NEURONAL INTRANUCLEAR INCLUSIONS | - |
dc.subject.keywordPlus | POLYGLUTAMINE-PROTEIN AGGREGATION | - |
dc.subject.keywordPlus | AMYLOID-LIKE FIBRILS | - |
dc.subject.keywordPlus | HUNTINGTONS-DISEASE | - |
dc.subject.keywordPlus | TRANSGENIC MICE | - |
dc.subject.keywordPlus | CELL-DEATH | - |
dc.subject.keywordPlus | CAG REPEAT | - |
dc.subject.keywordPlus | MEDIATES NEURODEGENERATION | - |
dc.subject.keywordPlus | TRANSCRIPTIONAL REPRESSION | - |
dc.subject.keywordAuthor | aggregates | - |
dc.subject.keywordAuthor | ataxin-1 | - |
dc.subject.keywordAuthor | cell therapy | - |
dc.subject.keywordAuthor | cellular dysfunction | - |
dc.subject.keywordAuthor | polyglutamine | - |
dc.subject.keywordAuthor | protein interaction | - |
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