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Deeper understanding of carboxylase.

James H Morrissey
Published in: Blood (2016)
In this issue of Blood, Tie et al report the development of a cleverly engineered, cell-based system for studying mutations in γ-glutamyl carboxylase (GGCX), the enzyme responsible for converting glutamate residues in certain proteins to γ-carboxyglutamate (Gla). They use this cell-based assay system to help explain the clinical manifestations of some otherwise puzzling GGCX gene mutations in humans that cause phenotypes ranging from severe bleeding to Keutel syndrome.
Keyphrases
  • single cell
  • cell therapy
  • atrial fibrillation
  • stem cells
  • early onset
  • drug induced