Etiology of TRPV4-dependent hereditary diseases. KU Leuven
TRPV4 is a channel in the plasma membrane of various mammalian cell types, where it allows passage of Na+ and Ca2+ ions in response to chemical, mechanical and thermal stimuli. Recently, it was found that mutations in the gene encoding TRPV4 are the direct cause of a number of quite distinct human hereditary diseases, including skeletal malformation diseases (dysplasias) as well as motor and sensory neuropathies, such as Charcot-Marie-Tooth ...