title: Nuclear accumulation of polyglutamine disease proteins and neuropathology.
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.
authors: Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA. lrsmit4@emory.edu
authors: Lauren S
authors: LS
authors: Havel
authors: Shihua
authors: S
authors: Li
authors: Xiao-Jiang
authors: XJ
authors: Li
mesh_terms: D000818:Animals; D002467:Cell Nucleus / Q000378:metabolism*; D006801:Humans; D050505:Mutant Proteins / Q000378:metabolism*; D019636:Neurodegenerative Diseases / Q000378:metabolism* / Q000473:pathology*; D010455:Peptides / Q000378:metabolism*; D019680:Trinucleotide Repeat Expansion
chemical_list: D050505:Mutant Proteins; D010455:Peptides; C097188:polyglutamine