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Published in 2021 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2109721118
Abstract: Significance Gain-of-function (GOF) mutations in the ATP-sensitive potassium (KATP) channel cause neonatal diabetes, with some individuals exhibiting developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome. In this study, we uncover the direct effects of neuronal…
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Keywords:
gof mutations;
katp;
katp gof;
cognitive deficits ... See more keywords
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Published in 2022 at "Diabetes"
DOI: 10.2337/db21-0992
Abstract: β-Cell failure and loss of β-cell mass are key events in diabetes progression. Although insulin hypersecretion in early stages has been implicated in β-cell exhaustion/failure, loss of β-cell mass still occurs in KATP gain-of-function (GOF)…
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Keywords:
cell;
katp gof;
cell mass;
mice ... See more keywords