Association with proteasome determines pathogenic threshold of polyglutamine expansion diseases.

ABSTRACT: Expansion of glutamine residue track (polyQ) within soluble protein is responsible for eight autosomal-dominant genetic neurodegenerative disorders. These disorders affect cerebellum, striatum, basal ganglia and other brain regions. Each disease develops when polyQ expansion exceeds a pathogenic threshold (Q_th). A pathogenic threshold is unique for each disease but the reasons for variability in Q_th within this family of proteins are poorly understood. In the previous publication we proposed that polarity of the regions flanking polyQ track in each protein plays a key role in defining Q_th value [1]. To explain the correlation between the polarity of the flanking sequences and Q_th we performed quantitative analysis of interactions between polyQ-ex

SUBMITTER: Kim M 

PROVIDER: S-EPMC7855799 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature