A conserved tryptophan at the membrane–water interface acts as a gatekeeper for Kir6.2/SUR1 channels and causes neonatal diabetes when mutated

ABSTRACT: We identified a novel heterozygous mutation, W68R, in the Kir6.2 subunit of the ATP-sensitive potassium (K(ATP)) channel, in a patient with transient neonatal diabetes. This tryptophan is absolutely conserved in mammalian Kir channels. The functional effects of mutations at residue 68 of K...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Männikkö, Roope, Stansfeld, Phillip J, Ashcroft, Alexandra S, Hattersley, Andrew T, Sansom, Mark S P, Ellard, Sian, Ashcroft, Frances M
Formato: Artigo
Idioma:Inglês
Publicado em: Blackwell Science Inc 2011
Assuntos:
Molecular and Cellular
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3145925/
https://ncbi.nlm.nih.gov/pubmed/21540348
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1113/jphysiol.2011.209700
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados