D-3-phosphoglycerate dehydrogenase deficiency effect on the embryonic head
Summary:
Analysis of embryonic head tissue lacking D-3-phosphoglycerate dehydrogenase (Phgdh). Mutations in human PHGDH gene cause serine deficiency disorders like congenital microcephaly and psychomotor retardation. Results provide insight into the pathogenesis of SDD.
Furuya S, Yoshida K, Kawakami Y, Yang JH et al. Inactivation of the 3-phosphoglycerate dehydrogenase gene in mice: changes in gene expression and associated regulatory networks resulting from serine deficiency. Funct Integr Genomics 2008 Aug;8(3):235-49. PMID: 18228065
