Abstract
The spinocerebellar ataxia·type 3 (SCA3),which belongs to the group of polyglutamine repeat (polyQ) diseases,is the most frequent form among the autosomal dominantly inherited spinocerebellar ataxias in China.Ataxin-3,encoded by SCA3 gene ( atxn3 ),is a ubiqitin-bingding protein and involved in mornitoring the degenaration of proteins by its deubiquitylation activity.The expanded ataxin-3 is of aggregative potential and forms aggresomes or inclusions by recruiting other proteins.The mutant ataxin-3 compromises the regulation of transcription,challenges the cell ' s ability to keep up with protein degradation,interferes with cellular metabolism and transportion,and eventually leads to cell apoptosis.This review will focus on emerging concepts of PolyQ disease,emphasizing the pathogenesis of SCA3. Key words: Spinocerebellar ataxia ; Ataxin-3 ; Pathogenesis
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