Article
GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation.
Biochimica et biophysica acta - 1 Nov 2012
Negahdar Maria, Aukrust Ingvild, Johansson Bente B, Molnes Janne, Molven Anders, Matschinsky Franz M, Søvik Oddmund, Kulkarni Rohit N, Flatmark Torgeir, Njølstad Pål Rasmus, Bjørkhaug Lise
Abstract excerpt
GCK-MODY, dominantly inherited mild fasting hyperglycemia, has been associated with >600 different mutations in the glucokinase (GK)-encoding gene (GCK). When expressed as recombinant pancreatic proteins, some mutations result in enzymes with normal/near-normal catalytic properties. The molecular mechanism(s) of GCK-MODY due to these mutations has remained elusive. Here, we aimed to explore the molecular...
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