Article
Pathogenesis of retinitis pigmentosa associated with apoptosis-inducing mutations in carbonic anhydrase IV.
Proceedings of the National Academy of Sciences of the United States of America - 3 Mar 2009
Datta Rupak, Waheed Abdul, Bonapace Giuseppe, Shah Gul N, Sly William S
Abstract excerpt
Missense mutations in the carbonic anhydrase IV (CA IV) gene have been identified in patients with an autosomal dominant form of retinitis pigmentosa (RP17). We used two transient expression systems to investigate the molecular mechanism by which the newly identified CA IV mutations, R69H and R219S, contribute to retinal pathogenesis. Although the R219S mutation drastically reduced the activity of the enzyme, the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.