Channelopathies converge on TRPV4.
Scapuloperoneal spinal muscular atrophy and Charcot-Marie-Tooth disease type 2C are inherited neurodegenerative diseases characterized by sensory defects and muscle weakness. Three new studies demonstrate that they are allelic disorders caused by mutations in the vanilloid transient receptor potential cation-channel gene TRPV4.
Nilius
Bernd
B
Owsianik
Grzegorz
G
D017089:Ankyrin Repeat; D053447:Channelopathies / Q000235:genetics*; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics; D006801:Humans; D009134:Muscular Atrophy, Spinal / Q000150:complications / Q000235:genetics; D050916:TRPV Cation Channels / Q000737:chemistry / Q000235:genetics*
D050916:TRPV Cation Channels; C416986:TRPV4 protein, human