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Article

A Kir6.2 mutation causing severe functional effects in vitro produces neonatal diabetes without the expected neurological complications.

Diabetologia - 1 May 2008

Tammaro P, Flanagan S E, Zadek B, Srinivasan S, Woodhead H, Hameed S, Klimes I, Hattersley A T, Ellard S, Ashcroft F M

Abstract excerpt

AIMS/HYPOTHESIS: Heterozygous activating mutations in the pancreatic ATP-sensitive K+ channel cause permanent neonatal diabetes mellitus (PNDM). This results from a decrease in the ability of ATP to close the channel, which thereby suppresses insulin secretion. PNDM mutations that cause a severe reduction in ATP inhibition may produce additional symptoms such as developmental delay and epilepsy. We identified a...

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Identifiers

PMID: 18335204
DOI: 10.1007/s00125-008-0923-1
PMCID: PMC2292422

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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