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Article

Molecular and functional characterization of a SUR1 mutation underlying dual glucose dysregulation.

International journal of biological macromolecules - 1 May 2026

Amirkashani Davoud, Ntwali P V Migisha, Tasharrofi Behnoosh, Kuo Yi-Ying, Driggers Camden M, Shyng Show-Ling, Gomari Mohammad Mahmoudi

Abstract excerpt

In this study, we describe molecular and functional characterization of the SUR1 missense variant Y123F, identified by whole-exome sequencing (WES) in a 6-year-old patient with alternating diabetic ketoacidosis (DKA) and dysglycemia, including hyperglycemia and postprandial hypoglycemia after high-protein meals. Evolutionary analysis revealed strong conservation of residue Y123. Structure-aware and energy-based...

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PMID: 41786160
DOI: 10.1016/j.ijbiomac.2026.151120

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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