Article
The puzzle of TRPV4 channelopathies.
EMBO reports - 1 Feb 2013
Nilius Bernd, Voets Thomas
Abstract excerpt
Hereditary channelopathies, that is, mutations in channel genes that alter channel function and are causal for the pathogenesis of the disease, have been described for several members of the transient receptor potential channel family. Mutations in the TRPV4 gene, encoding a polymodal Ca(2+) permeable channel, are causative for several human diseases, which affect the skeletal system and the peripheral nervous...
Topics
- Animals
- Bone Diseases, Developmental
- Channelopathies
- Hereditary Sensory and Motor Neuropathy
- Humans
- Musculoskeletal Diseases
- Mutation, Missense
- Phenotype
- TRPV Cation Channels