Mild phenotypes of phosphoglycerate dehydrogenase deficiency by a novel mutation of PHGDH gene: Case report and literature review
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Developmental Neuroscience"
DOI: 10.1002/jdn.10236
Abstract: Phosphoglycerate dehydrogenase (PHGDH) deficiency is a rare autosomal recessive genetic disease of serine biosynthesis. Its typical features are congenital microcephaly, epileptic seizures, and psychomotor developmental delay. Here, we reported the first Chinese familial cases with… read more here.
Keywords: mutation phgdh; phgdh; deficiency; phosphoglycerate dehydrogenase ... See more keywords
Metabolic compensation activates pro-survival mTORC1 signaling upon 3-phosphoglycerate dehydrogenase inhibition in osteosarcoma.
Sign Up to like & getrecommendations! Published in 2021 at "Cell reports"
DOI: 10.1016/j.celrep.2020.108678
Abstract: Osteosarcoma is the most common pediatric and adult primary malignant bone cancer. Curative regimens target the folate pathway, downstream of serine metabolism, with high-dose methotrexate. Here, the rate-limiting enzyme in the biosynthesis of serine from… read more here.
Keywords: pro survival; phosphoglycerate dehydrogenase; mtorc1 signaling; inhibition ... See more keywords
Reduction of stratum corneum ceramides in Neu-Laxova syndrome caused by phosphoglycerate dehydrogenase deficiency[S]
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Lipid Research"
DOI: 10.1194/jlr.p087536
Abstract: Neu-Laxova syndrome (NLS) is a very rare autosomal recessive congenital disorder characterized by disturbed development of the central nervous system and the skin and caused by mutations in any of the three genes involved in… read more here.
Keywords: stratum corneum; phosphoglycerate dehydrogenase; neu laxova; laxova syndrome ... See more keywords
Identification and Biochemical Characterization of the Serine Biosynthetic Enzyme 3-Phosphoglycerate Dehydrogenase in Marchantia polymorpha
Sign Up to like & getrecommendations! Published in 2018 at "Frontiers in Plant Science"
DOI: 10.3389/fpls.2018.00956
Abstract: L-serine is an important molecule in all living organisms, and thus its biosynthesis is considered to be regulated according to demand. 3-Phosphoglycerate dehydrogenase (PGDH), the first committed enzyme of the phosphorylated pathway of L-serine biosynthesis,… read more here.
Keywords: pgdh; phosphoglycerate dehydrogenase; marchantia polymorpha; serine ... See more keywords
Inhibition of Phosphoglycerate Dehydrogenase Radiosensitizes Human Colorectal Cancer Cells under Hypoxic Conditions
Sign Up to like & getrecommendations! Published in 2022 at "Cancers"
DOI: 10.3390/cancers14205060
Abstract: Simple Summary Colorectal cancer is the third most prevalent cancer worldwide. Treatment options for these patients consist of surgery combined with chemotherapy and/or radiotherapy. However, a subset of tumors will not respond to therapy or… read more here.
Keywords: inhibition; cancer cells; human colorectal; phosphoglycerate dehydrogenase ... See more keywords
Identification of Novel Natural Inhibitors to Human 3-Phosphoglycerate Dehydrogenase (PHGDH) for Cancer Treatment
Sign Up to like & getrecommendations! Published in 2022 at "Molecules"
DOI: 10.3390/molecules27186108
Abstract: Targeting the serine biosynthesis pathway enzymes has turned up as a novel strategy for anti-cancer therapeutics. 3- Phosphoglycerate dehydrogenase (PHGDH) is the rate-limiting enzyme that catalyzes the conversion of 3-Phosphoglyceric acid (3-PG) into 3-Phosphohydroxy pyruvate… read more here.
Keywords: phgdh; identification; phosphoglycerate dehydrogenase; acid ... See more keywords