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Article

An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes.

Diabetes - 1 Feb 2007

Masia Ricard, Koster Joseph C, Tumini Stefano, Chiarelli Francesco, Colombo Carlo, Nichols Colin G, Barbetti Fabrizio

Abstract excerpt

Mutations in the pancreatic ATP-sensitive K(+) channel (K(ATP) channel) cause permanent neonatal diabetes mellitus (PNDM) in humans. All of the K(ATP) channel mutations examined result in decreased ATP inhibition, which in turn is predicted to suppress insulin secretion. Here we describe a patien...

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Share to Developmental Disabilities
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Potassium Channels

Share to Potassium Channels, Inwardly Rectifying

Share to Receptors, Drug

Share to Sulfonylurea Compounds

Share to Sulfonylurea Receptors

Source

Identifiers

PMID: 17259376
DOI: 10.2337/db06-1275

Genes

KCNJ11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-17259376-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes.PMID 17259376Read ↗

Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects.Semantic proximity Read ↗

A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.Semantic proximity Read ↗

Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features.Semantic proximity Read ↗

ATP and sulfonylurea sensitivity of mutant ATP-sensitive K+ channels in neonatal diabetes: implications for pharmacogenomic therapy.Semantic proximity Read ↗

Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy.Semantic proximity Read ↗

Functional effects of mutations at F35 in the NH2-terminus of Kir6.2 (KCNJ11), causing neonatal diabetes, and response to sulfonylurea therapy.Semantic proximity Read ↗

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

Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes.Semantic proximity Read ↗

Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation by MgATP.Semantic proximity Read ↗

The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy.Semantic proximity Read ↗

Mutations of the same conserved glutamate residue in NBD2 of the sulfonylurea receptor 1 subunit of the KATP channel can result in either hyperinsulinism or neonatal diabetes.Semantic proximity Read ↗

Kir6.2 mutations associated with neonatal diabetes reduce expression of ATP-sensitive K+ channels: implications in disease mechanism and sulfonylurea therapy.Semantic proximity Read ↗

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