Login / Signup

Association of a homozygous GCK missense mutation with mild diabetes.

Antonella MarucciTommaso BiaginiRosa Di PaolaClaudia MenzaghiGrazia FiniStefano CastellanaGiuliana Marcella CardinaleTommaso MazzaVincenzo Trischitta
Published in: Molecular genetics & genomic medicine (2019)
We present the third case of homozygous GCK mutations associated with mild hyperglycemia, rather than PNDM. Our in-silico analyses support previous evidences suggesting that protein stability plays a role in determining clinical severity of GCK mutations.
Keyphrases
  • type diabetes
  • cardiovascular disease
  • molecular docking
  • intellectual disability
  • glycemic control
  • binding protein
  • oxidative stress
  • adipose tissue