Defective protein prenylation is a diagnostic biomarker of mevalonate kinase deficiency

J Allergy Clin Immunol. 2017 Sep;140(3):873-875.e6. doi: 10.1016/j.jaci.2017.02.033. Epub 2017 May 10.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Biomarkers / metabolism
  • Child
  • Female
  • GTP Phosphohydrolases / metabolism
  • Humans
  • Leukocytes, Mononuclear / metabolism
  • Male
  • Mevalonate Kinase Deficiency / genetics
  • Mevalonate Kinase Deficiency / metabolism*
  • Middle Aged
  • Phosphotransferases (Alcohol Group Acceptor) / genetics
  • Protein Prenylation*
  • rap1 GTP-Binding Proteins / metabolism

Substances

  • Biomarkers
  • RAP1A protein, human
  • Phosphotransferases (Alcohol Group Acceptor)
  • mevalonate kinase
  • GTP Phosphohydrolases
  • rap1 GTP-Binding Proteins