Article
Human cataract mutations in EPHA2 SAM domain alter receptor stability and function.
PloS one - 1 Jan 2012
Park Jeong Eun, Son Alexander I, Hua Rui, Wang Lianqing, Zhang Xue, Zhou Renping
Abstract excerpt
The cellular and molecular mechanisms underlying the pathogenesis of cataracts leading to visual impairment remain poorly understood. In recent studies, several mutations in the cytoplasmic sterile-α-motif (SAM) domain of human EPHA2 on chromosome 1p36 have been associated with hereditary cataracts in several families. Here, we have investigated how these SAM domain mutations affect EPHA2 activity. We showed that...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.