Article
Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.
Human molecular genetics - 15 Dec 2014
Raimondo Anne, Chakera Ali J, Thomsen Soren K, Colclough Kevin, Barrett Amy, De Franco Elisa, Chatelas Alisson, Demirbilek Huseyin, Akcay Teoman, Alawneh Hussein, Flanagan Sarah E, Van De Bunt Martijn, Hattersley Andrew T, Gloyn Anna L, Ellard Sian
Abstract excerpt
Mutations in glucokinase (GCK) cause a spectrum of glycemic disorders. Heterozygous loss-of-function mutations cause mild fasting hyperglycemia irrespective of mutation severity due to compensation from the unaffected allele. Conversely, homozygous loss-of-function mutations cause permanent neona...
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