Article
Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria.
The Journal of clinical investigation - 1 Aug 2008
Pey Angel L, Ying Ming, Cremades Nunilo, Velazquez-Campoy Adrian, Scherer Tanja, Thöny Beat, Sancho Javier, Martinez Aurora
Abstract excerpt
Phenylketonuria (PKU) is an inborn error of metabolism caused by mutations in phenylalanine hydroxylase (PAH). Over 500 disease-causing mutations have been identified in humans, most of which result in PAH protein misfolding and increased turnover in vivo. The use of pharmacological chaperones to stabilize or promote correct folding of mutant proteins represents a promising new direction in the treatment of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.