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Article

Mechanism of action of a sulphonylurea receptor SUR1 mutation (F132L) that causes DEND syndrome.

Human molecular genetics - 15 Aug 2007

Proks Peter, Shimomura Kenju, Craig Tim J, Girard Christophe A J, Ashcroft Frances M

Abstract excerpt

Activating mutations in the genes encoding the ATP-sensitive potassium (K(ATP)) channel subunits Kir6.2 and SUR1 are a common cause of neonatal diabetes. Here, we analyse the molecular mechanism of action of the heterozygous mutation F132L, which lies in the first set of transmembrane helices (TMD0) of SUR1. This mutation causes severe developmental delay, epilepsy and permanent neonatal diabetes (DEND syndrome)....

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Source

Identifiers

PMID: 17584766
DOI: 10.1093/hmg/ddm149

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Mechanism of action of a sulphonylurea receptor SUR1 mutation (F132L) that causes DEND syndrome.PMID 17584766Read ↗

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