Identification and glycerol-induced correction of misfolding mutations in the X-linked mental retardation gene CASK.

ABSTRACT: The overwhelming amount of available genomic sequence variation information demands a streamlined approach to examine known pathogenic mutations of any given protein. Here we seek to outline a strategy to easily classify pathogenic missense mutations that cause protein misfolding and are thus good candidates for chaperone-based therapeutic strategies, using previously identified mutations in the gene CASK. We applied a battery of bioinformatics algorithms designed to predict potential impact on protein structure to five pathogenic missense mutations in the protein CASK that have been shown to underlie pathologies ranging from X-linked mental retardation to autism spectrum disorder. A successful classification of the mutations as damaging was not consistently achieved despite the known path

SUBMITTER: LaConte LE 

PROVIDER: S-EPMC3914952 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature