Variation in the autophagic beclin-1 (BECN1) has a potential to modify onset of Machado-Joseph disea

来源 :2014 International Conference on Aging and Disease(2014年第一届衰 | 被引量 : 0次 | 上传用户:xyhai110
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  Autophagy, as a process of lysosomal-dependent intracellular components degradation, is especially important in disorders where accumulation of the mutant protein is a hallmark, such as Machado-Joseph disease (MJD/SCA3;OMIM 109150), a late onset progressive polyglutamine ataxia, considered the worldwide most common autosomal dominant polyQ SCA caused by a CAG tract expansion in the ATXN3 gene (OMIM 607047).Beclin 1 is one of the autophagy-related proteins, defects in which were found to be correlated with neurodegenerative diseases.
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