Article
Insulin-receptor autophosphorylation and kinase activity are constitutively increased in fibroblasts cultured from a patient with heritable insulin-resistance.
Biochemical and biophysical research communications - 30 Mar 1990
Longo N, Shuster R C, Griffin L D, Elsas L J
Abstract excerpt
Mutations in the insulin receptor gene have been described in families with the inherited insulin-resistant syndrome leprechaunism. At a cellular level, these mutations result in decreased insulin binding and impaired insulin stimulation of receptor autophosphorylation and sugar transport. By con...
Topics
- Cells, Cultured
- Down-Regulation
- Fibroblasts
- Homeostasis
- Humans
- Insulin Resistance
- Macromolecular Substances
- Mutation
- Phosphorylation
- Protein-Tyrosine Kinases
- Receptor, Insulin
- Reference Values
- Syndrome