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Article

A mutation (R826W) in nucleotide-binding domain 1 of ABCC8 reduces ATPase activity and causes transient neonatal diabetes.

EMBO reports - 1 Jul 2008

de Wet Heidi, Proks Peter, Lafond Mathilde, Aittoniemi Jussi, Sansom Mark S P, Flanagan Sarah E, Pearson Ewan R, Hattersley Andrew T, Ashcroft Frances M

Abstract excerpt

Activating mutations in the pore-forming Kir6.2 (KCNJ11) and regulatory sulphonylurea receptor SUR1 (ABCC8) subunits of the K(ATP) channel are a common cause of transient neonatal diabetes mellitus (TNDM). We identified a new TNDM mutation (R826W) in the first nucleotide-binding domain (NBD1) of...

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Share to Adenosine Diphosphate
Share to Diabetes Mellitus
Share to Infant, Newborn, Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ion Channel Gating

Share to Potassium Channels, Inwardly Rectifying

Share to Receptors, Drug

Share to Sulfonylurea Receptors

Share to Tryptophan

Source

Open in PubMed Open full text

Identifiers

PMID: 18497752
DOI: 10.1038/embor.2008.71
PMCID: PMC2475326

Genes

ABCC8
KCNJ11
MBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18497752-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A mutation (R826W) in nucleotide-binding domain 1 of ABCC8 reduces ATPase activity and causes transient neonatal diabetes.PMID 18497752Read ↗

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 ↗

Compound heterozygous mutations in the SUR1 (ABCC 8) subunit of pancreatic K(ATP) channels cause neonatal diabetes by perturbing the coupling between Kir6.2 and SUR1 subunits.Semantic proximity Read ↗

A universally conserved residue in the SUR1 subunit of the KATP channel is essential for translating nucleotide binding at SUR1 into channel opening.Semantic proximity Read ↗

Two neonatal diabetes mutations on transmembrane helix 15 of SUR1 increase affinity for ATP and ADP at nucleotide binding domain 2.Semantic proximity Read ↗

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

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.Semantic proximity Read ↗

New insights into KATP channel gene mutations and neonatal diabetes mellitus.Semantic proximity Read ↗

Hyperinsulinism-Causing Mutations Cause Multiple Molecular Defects in SUR1 NBD1.Semantic proximity Read ↗

Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions.Semantic proximity Read ↗

A rare mutation in ABCC8/SUR1 leading to altered ATP-sensitive K+ channel activity and beta-cell glucose sensing is associated with type 2 diabetes in adults.Semantic proximity Read ↗

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

Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinismSemantic proximity Read ↗

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