Developmental defects and impaired network excitability in a cerebral organoid model of KCNJ11 p.V59M-related neonatal diabetes

Developmental defects and impaired network excitability in a cerebral organoid model of KCNJ11 p.V59M-related neonatal diabetes

Abstract The gene KCNJ11 encodes Kir6.2 a major subunit of the ATP-sensitive potassium channel (KATP) expressed in both the pancreas and brain. Heterozygous gain of function mutations in KCNJ11 can cause neonatal diabetes mellitus (NDM). In addition, many patients exhibit neurological defects rangin...

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Autores principales: Gokhan Dalgin, Andrew K. Tryba, Ashley P. Cohen, Soo-Young Park, Louis H. Philipson, Siri Atma W. Greeley, Alfredo J. Garcia
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
Materias:
Medicine
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Science
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Acceso en línea:https://doaj.org/article/879668c1d1e34e7388085a487600bc5a
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