Article
Pharmacological chaperone-mediated in vivo folding and stabilization of the P23H-opsin mutant associated with autosomal dominant retinitis pigmentosa.
The Journal of biological chemistry - 18 Apr 2003
Noorwez Syed M, Kuksa Vladimir, Imanishi Yoshikazu, Zhu Li, Filipek Sławomir, Palczewski Krzysztof, Kaushal Shalesh
Abstract excerpt
Protein conformational disorders, which include certain types of retinitis pigmentosa, are a set of inherited human diseases in which mutant proteins are misfolded and often aggregated. Many opsin mutants associated with retinitis pigmentosa, the most common being P23H, are misfolded and retained within the cell. Here, we describe a pharmacological chaperone, 11-cis-7-ring retinal, that quantitatively induces the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.