Article
Follistatin in chondrocytes: the link between TRPV4 channelopathies and skeletal malformations.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Jun 2014
Leddy Holly A, McNulty Amy L, Lee Suk Hee, Rothfusz Nicole E, Gloss Bernd, Kirby Margaret L, Hutson Mary R, Cohn Daniel H, Guilak Farshid, Liedtke Wolfgang
Abstract excerpt
Point mutations in the calcium-permeable TRPV4 ion channel have been identified as the cause of autosomal-dominant human motor neuropathies, arthropathies, and skeletal malformations of varying severity. The objective of this study was to determine the mechanism by which TRPV4 channelopathy mutations cause skeletal dysplasia. The human TRPV4(V620I) channelopathy mutation was transfected into primary porcine...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.