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Article

Permanent neonatal diabetes-causing insulin mutations have dominant negative effects on beta cell identity.

Molecular metabolism - 1 Feb 2024

Zhang Yuwei, Sui Lina, Du Qian, Haataja Leena, Yin Yishu, Viola Ryan, Xu Shuangyi, Nielsson Christian Ulrik, Leibel Rudolph L, Barbetti Fabrizio, Arvan Peter, Egli Dieter

Abstract excerpt

OBJECTIVE: Heterozygous coding sequence mutations of the INS gene are a cause of permanent neonatal diabetes (PNDM), requiring insulin therapy similar to T1D. While the negative effects on insulin processing and secretion are known, how dominant insulin mutations result in a continued decline of beta cell function after birth is not well understood. METHODS: We explored the causes of beta cell failure in two PNDM...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38237895
DOI: 10.1016/j.molmet.2024.101879
PMCID: PMC10839447

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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