Articles with "katp gof" as a keyword



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Cognitive deficits and impaired hippocampal long-term potentiation in KATP-induced DEND syndrome

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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… read more here.

Keywords: gof mutations; katp; katp gof; cognitive deficits ... See more keywords
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Genetic Reduction of Glucose Metabolism Preserves Functional β-Cell Mass in KATP-Induced Neonatal Diabetes

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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)… read more here.

Keywords: cell; katp gof; cell mass; mice ... See more keywords