From pathways to targets: understanding the mechanisms behind polyglutamine disease.

Abstract:

:The history of polyglutamine diseases dates back approximately 20 years to the discovery of a polyglutamine repeat in the androgen receptor of SBMA followed by the identification of similar expansion mutations in Huntington's disease, SCA1, DRPLA, and the other spinocerebellar ataxias. This common molecular feature of polyglutamine diseases suggests shared mechanisms in disease pathology and neurodegeneration of disease specific brain regions. In this review, we discuss the main pathogenic pathways including proteolytic processing, nuclear shuttling and aggregation, mitochondrial dysfunction, and clearance of misfolded polyglutamine proteins and point out possible targets for treatment.

journal_name

Biomed Res Int

authors

Weber JJ,Sowa AS,Binder T,Hübener J

doi

10.1155/2014/701758

subject

Has Abstract

pub_date

2014-01-01 00:00:00

pages

701758

eissn

2314-6133

issn

2314-6141

journal_volume

2014

pub_type

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