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).1 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.
|Original language||English (US)|
|Number of pages||2|
|State||Published - Apr 14 2016|
ASJC Scopus subject areas
- Cell Biology