Article
Recovery of current through mutated TASK3 potassium channels underlying Birk Barel syndrome.
Molecular pharmacology - 1 Mar 2014
Veale Emma L, Hassan Mustafa, Walsh Yvonne, Al-Moubarak Ehab, Mathie Alistair
Abstract excerpt
TASK3 (TWIK-related acid-sensitive K(+) channel 3) potassium channels are members of the two-pore-domain potassium channel family. They are responsible for background leak potassium currents found in many cell types. TASK3 channels are genetically imprinted, and a mutation in TASK3 (G236R) is responsible for Birk Barel mental retardation dysmorphism syndrome, a maternally transmitted developmental disorder. This...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
