Functional Characterization of a Novel KCNJ11 in Frame Mutation-Deletion Associated with Infancy-Onset Diabetes and a Mild Form of Intermediate DEND: A Battle between K(ATP) Gain of Channel Activity and Loss of Channel Expression

ATP-sensitive potassium (K(ATP)) channels are widely distributed in various tissues and cell types where they couple cell metabolism to cell excitability. Gain of channel function (GOF) mutations in the genes encoding Kir6.2 (KCNJ11) or the associated regulatory ssulfonylurea receptor 1 subunit (ABC...

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Detalles Bibliográficos
Autores principales: Lin, Yu-Wen, Li, Anlong, Grasso, Valeria, Battaglia, Domenica, Crinò, Antonino, Colombo, Carlo, Barbetti, Fabrizio, Nichols, Colin G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3646792/
https://www.ncbi.nlm.nih.gov/pubmed/23667671
http://dx.doi.org/10.1371/journal.pone.0063758

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