Insulin mutations impair beta-cell development in a patient-derived iPSC model of neonatal diabetes

Insulin mutations impair beta-cell development in a patient-derived iPSC model of neonatal diabetes

Insulin gene mutations are a leading cause of neonatal diabetes. They can lead to proinsulin misfolding and its retention in endoplasmic reticulum (ER). This results in increased ER-stress suggested to trigger beta-cell apoptosis. In humans, the mechanisms underlying beta-cell failure remain unclear...

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Bibliographic Details
Main Authors: Diego Balboa, Jonna Saarimäki-Vire, Daniel Borshagovski, Mantas Survila, Päivi Lindholm, Emilia Galli, Solja Eurola, Jarkko Ustinov, Heli Grym, Hanna Huopio, Juha Partanen, Kirmo Wartiovaara, Timo Otonkoski
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2018-11-01
Series:eLife
Subjects:
beta-cell development
Insulin gene mutations
mTORC1
induced pluripotent stem cells
CRISPR-Cas9
endoplasmic reticulum stress
Online Access:https://elifesciences.org/articles/38519

Internet

https://elifesciences.org/articles/38519

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