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Article

A novel pathogenic variant in the glucokinase gene found in two Japanese siblings with maturity-onset diabetes of the young 2.

Endocrine journal - 28 Jun 2023

Tanaka Satoshi, Akagawa Hiroyuki, Azuma Kenkou, Watanabe Kaoru, Higuchi Sayaka, Iwasaki Naoko

Abstract excerpt

Glucokinase is a glycolytic enzyme that catalyzes the phosphorylation of glucose to glucose-6-phospate in the first step of the glycolytic pathway. It also regulates the threshold for insulin secretion from pancreatic beta cells by catalyzing the phosphorylation of glucose and plays an important role as a glucose sensor. Pathogenic variants in the glucokinase gene (GCK) cause non-progressive but persistent mild...

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PMID: 37045781
DOI: 10.1507/endocrj.EJ22-0541

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Molecular and clinical characterization of glucokinase maturity-onset diabetes of the young (GCK-MODY) in Japanese patients.Semantic proximity Read ↗

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