Article
Mouse modeling and structural analysis of the p.G307S mutation in human cystathionine β-synthase (CBS) reveal effects on CBS activity but not stability.
The Journal of biological chemistry - 7 Sept 2018
Gupta Sapna, Kelow Simon, Wang Liqun, Andrake Mark D, Dunbrack Roland L, Kruger Warren D
Abstract excerpt
Mutations in the cystathionine β-synthase (CBS) gene are the cause of classical homocystinuria, the most common inborn error in sulfur metabolism. The p.G307S mutation is the most frequent cause of CBS deficiency in Ireland, which has the highest prevalence of CBS deficiency in Europe. Individuals homozygous for this mutation tend to be severely affected and are pyridoxine nonresponsive, but the molecular basis...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.