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Updated: Jun 21, 2026

Assays for the Degradation of Misfolded Proteins in Cells
Published on: August 28, 2016
Nuclear accumulation of polyglutamine disease proteins and neuropathology
Lauren S Havel1, Shihua Li, Xiao-Jiang Li
1Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA. lrsmit4@emory.edu
Abstract:
There are nine inherited neurodegenerative disorders caused by polyglutamine (polyQ) expansion in various disease proteins. Although these polyglutamine proteins have different functions and are localized in different subcellular regions, all the polyQ diseases share a common pathological feature: the nuclear accumulation of polyQ disease proteins and the formation of inclusions. The nuclear accumulation of polyQ proteins in turn leads to gene transcriptional dysregulation and neuropathology. Here we will discuss potential mechanisms behind the nuclear accumulation of mutant polyQ proteins, since an understanding of how polyQ proteins accumulate in the nucleus could help elucidate the pathogenesis of these diseases and develop their treatment.
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