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Lysine 117 Residue Is Essential for the Function of the Hepatocyte Nuclear Factor 1α.

Diabetes - 1 Oct 2023

Chu Yuan, Zhao Long, Liu Xian, Chen Hui, Zhao Chen, Chen Sicong, Xiang Shensi, Lu Jun, Wang Xiaofang, Wan Yue, Dong Diandian, Yao Songhui, Li Changyan, Yin Ronghua, Ren Guangming, Yang Xiaoming, Yu Miao

Abstract excerpt

Hepatocyte nuclear factor 1α (HNF1α) plays essential roles in controlling development and metabolism; its mutations are clearly linked to the occurrence of maturity-onset diabetes of the young (MODY3) in humans. Lysine 117 (K117) to glutamic acid (E117) mutation in the HNF1α gene has been clinically associated with MODY3, but no functional data on this variant are available. Here, we addressed the role of lysine...

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PMID: 37440709
DOI: 10.2337/db22-0672

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