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Article

Anoctamin 5 mutation leads to abnormal bone homeostasis of GDD by regulating AMPK-dependent glucose metabolism.

Frontiers in endocrinology - 1 Jan 2026

Li Hongyu, Xu Huichong, Sun Kaiwen, Wang Shengnan, Zhang Mingyue, Lin Liqi, Zhang Shuai, Dong Rui, Hu Ying

Abstract excerpt

Introduction: Gnathodiaphyseal Dysplasia (GDD) characterized by enhanced bone mass and spontaneous fractures is a rare autosomal dominant genetic disease caused by Anoctamin 5 (ANO5) mutations. Deletion or mutation in ANO5 exhibited abnormal bone metabolism of GDD manifested by increased osteogenesis and reduced osteoclastogenesis. However, the mechanism is not fully understood. Methods: Ano5Cys360Ty r knock-in...

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AMP-Activated Protein Kinases
Anoctamins
Bone and Bones
Glucose
Homeostasis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41717545
DOI: 10.3389/fendo.2026.1703491
PMCID: PMC12913092

Genes

ANO5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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