[HTML][HTML] Targeted disruption of the mouse 3-phosphoglycerate dehydrogenase gene causes severe neurodevelopmental defects and results in embryonic lethality

K Yoshida, S Furuya, S Osuka, J Mitoma… - Journal of Biological …, 2004 - ASBMB
d-3-Phosphoglycerate dehydrogenase (Phgdh; EC 1.1. 1.95) is the first committed enzyme
of l-serine biosynthesis in the phosphorylated pathway. To determine the physiological
importance of Phgdh-dependent l-serine biosynthesis in vivo, we generated Phgdh-deficient
mice using targeted gene disruption in embryonic stem cells. The absence of Phgdh led to a
drastic reduction of l-serine metabolites such as phosphatidyl-l-serine and sphingolipids.
Phgdh null embryos have small bodies with abnormalities in selected tissues and died after …