Article
Allele-specific effects of human deafness gamma-actin mutations (DFNA20/26) on the actin/cofilin interaction.
The Journal of biological chemistry - 3 Jul 2009
Bryan Keith E, Rubenstein Peter A
Abstract excerpt
Auditory hair cell function requires proper assembly and regulation of the nonmuscle gamma isoactin-rich cytoskeleton, and six point mutations in this isoactin cause a type of delayed onset autosomal dominant nonsyndromic progressive hearing loss, DFNA20/26. The molecular basis underlying this actin-dependent hearing loss is unknown. To address this problem, the mutations have been introduced into yeast actin,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
