A mutation (R826W) in nucleotide-binding domain 1 of ABCC8 reduces ATPase activity and causes transient neonatal diabetes

Activating mutations in the pore-forming Kir6.2 (KCNJ11) and regulatory sulphonylurea receptor SUR1 (ABCC8) subunits of the K(ATP) channel are a common cause of transient neonatal diabetes mellitus (TNDM). We identified a new TNDM mutation (R826W) in the first nucleotide-binding domain (NBD1) of SUR...

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Hlavní autoři: de Wet, Heidi, Proks, Peter, Lafond, Mathilde, Aittoniemi, Jussi, Sansom, Mark S P, Flanagan, Sarah E, Pearson, Ewan R, Hattersley, Andrew T, Ashcroft, Frances M
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2008
Témata:
Scientific Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2475326/
https://ncbi.nlm.nih.gov/pubmed/18497752
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/embor.2008.71
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