Article
Retinitis Pigmentosa Mutations in Bad Response to Refrigeration 2 (Brr2) Impair ATPase and Helicase Activity.
The Journal of biological chemistry - 3 Jun 2016
Ledoux Sarah, Guthrie Christine
Abstract excerpt
Brr2 is an RNA-dependent ATPase required to unwind the U4/U6 snRNA duplex during spliceosome assembly. Mutations within the ratchet helix of the Brr2 RNA binding channel result in a form of degenerative human blindness known as retinitis pigmentosa (RP). The biochemical consequences of these mutations on Brr2's RNA binding, helicase, and ATPase activity have not yet been characterized. Therefore, we identified...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
