Scientific article
English

An arginine to cysteine(252) mutation in insulin receptors from a patient with severe insulin resistance inhibits receptor internalisation but preserves signalling events

Published inDiabetologia, vol. 45, no. 5, p. 657-667
Publication date2002
Abstract

We examined the properties of a mutant insulin receptor (IR) with an Arg(252) to Cys (IR(R252C)) substitution in the alpha-subunit originally identified in a patient with extreme insulin resistance and acanthosis nigricans.

Keywords
  • Acanthosis Nigricans/genetics
  • Adult
  • Amino Acid Substitution
  • Animals
  • Arginine
  • CHO Cells
  • Cricetinae
  • Cysteine
  • DNA/biosynthesis
  • Humans
  • Insulin/metabolism
  • Insulin Resistance/genetics
  • Male
  • Mitogen-Activated Protein Kinase 1/metabolism
  • Mitogen-Activated Protein Kinase 3
  • Mitogen-Activated Protein Kinases/metabolism
  • Mutation
  • Phosphorylation
  • Protein Subunits
  • Protein Transport
  • Receptor
  • Insulin/genetics/metabolism/physiology
  • Recombinant Proteins/metabolism
  • Signal Transduction/physiology
  • Thymidine/metabolism
  • Transfection
Citation (ISO format)
HAMER, Isabelle et al. An arginine to cysteine(252) mutation in insulin receptors from a patient with severe insulin resistance inhibits receptor internalisation but preserves signalling events. In: Diabetologia, 2002, vol. 45, n° 5, p. 657–667. doi: 10.1007/s00125-002-0798-5
Main files (1)
Article (Published version)
accessLevelRestricted
Identifiers
Journal ISSN0012-186X
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