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Article

Aberrant Splicing of INS Impairs Beta-Cell Differentiation and Proliferation by ER Stress in the Isogenic iPSC Model of Neonatal Diabetes.

International journal of molecular sciences - 8 Aug 2022

Panova Alexandra V, Klementieva Natalia V, Sycheva Anna V, Korobko Elena V, Sosnovtseva Anastasia O, Krasnova Tatiana S, Karpova Maria R, Rubtsov Petr M, Tikhonovich Yulia V, Tiulpakov Anatoly N, Kiselev Sergey L

Abstract excerpt

One of the causes of diabetes in infants is the defect of the insulin gene (INS). Gene mutations can lead to proinsulin misfolding, an increased endoplasmic reticulum (ER) stress and possible beta-cell apoptosis. In humans, the mechanisms underlying beta-cell failure remain unclear. We generated induced pluripotent stem cells (iPSCs) from a patient diagnosed with neonatal diabetes mellitus carrying the INS...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35955956
DOI: 10.3390/ijms23158824
PMCID: PMC9369396

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Related research

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Aberrant Splicing of INS Impairs Beta-Cell Differentiation and Proliferation by ER Stress in the Isogenic iPSC Model of Neonatal Diabetes.PMID 35955956Read ↗

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Permanent Neonatal diabetes-causing Insulin mutations have dominant negative effects on beta cell identitySemantic proximity Read ↗

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Generation of an induced pluripotent stem cell line ERCi003-A derived from a patient with maturity-onset diabetes of the young type 10 caused by a heterozygous <i>INS</i> mutationSemantic proximity Read ↗

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