Article
GCK-MODY diabetes as a protein misfolding disease: the mutation R275C promotes protein misfolding, self-association and cellular degradation.
Molecular and cellular endocrinology - 25 Jan 2014
Negahdar Maria, Aukrust Ingvild, Molnes Janne, Solheim Marie H, Johansson Bente B, Sagen Jørn V, Dahl-Jørgensen Knut, Kulkarni Rohit N, Søvik Oddmund, Flatmark Torgeir, Njølstad Pål R, Bjørkhaug Lise
Abstract excerpt
GCK-MODY, dominantly inherited mild hyperglycemia, is associated with more than 600 mutations in the glucokinase gene. Different molecular mechanisms have been shown to explain GCK-MODY. Here, we report a Pakistani family harboring the glucokinase mutation c.823C>T (p.R275C). The recombinant and in cellulo expressed mutant pancreatic enzyme revealed slightly increased enzyme activity (kcat) and normal affinity...
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