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Article

Structure based analysis of KATP channel with a DEND syndrome mutation in murine skeletal muscle.

Scientific reports - 23 Mar 2021

Horita Shoichiro, Ono Tomoyuki, Gonzalez-Resines Saul, Ono Yuko, Yamachi Megumi, Zhao Songji, Domene Carmen, Maejima Yuko, Shimomura Kenju

Abstract excerpt

Developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome, the most severe end of neonatal diabetes mellitus, is caused by mutation in the ATP-sensitive potassium (KATP) channel. In addition to diabetes, DEND patients present muscle weakness as one of the symptoms, and although the muscle weakness is considered to originate in the brain, the pathological effects of mutated KATP channels in skeletal...

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Source

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Identifiers

PMID: 33758250
DOI: 10.1038/s41598-021-86121-5
PMCID: PMC7988048

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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