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...

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Autors principals: Männikkö, Roope, Stansfeld, Phillip J, Ashcroft, Alexandra S, Hattersley, Andrew T, Sansom, Mark S P, Ellard, Sian, Ashcroft, Frances M
Format: Artigo
Idioma:Inglês
Publicat: Blackwell Science Inc 2011
Matèries:
Molecular and Cellular
Accés en línia: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
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