Associated Papers
Transcriptional regulation by PHGDH drives amyloid pathology in Alzheimer's disease.
Chen J et al.
Cell, 2025
Genetic Background of Macular Telangiectasia Type 2.
Kunčič A et al.
International Journal of Molecular Sciences, 2025
PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect.
Cuinat S et al.
European Journal of Medical Genetics, 2023
Mild phenotypes of phosphoglycerate dehydrogenase deficiency by a novel mutation of PHGDH gene: Case report and literature review.
Fu J et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2023
Integrative genomic and transcriptomic analysis in plasmablastic lymphoma identifies disruption of key regulatory pathways.
Witte HM et al.
Blood Advances, 2022
Juvenile-onset PSAT1-related neuropathy: A milder phenotype of serine deficiency disorder.
Shen Y et al.
Frontiers in Genetics, 2022
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease.
Eade K et al.
Nature Metabolism, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly.
Poli A et al.
American Journal of Medical Genetics. Part A, 2017
Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation.
Zaki M et al.
Frontiers in Genetics, 2017
On the phenotypic spectrum of serine biosynthesis defects.
El-Hattab AW et al.
Journal of Inherited Metabolic Disease, 2016
Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability.
Mattos EP et al.
American Journal of Medical Genetics. Part A, 2015
Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.
Shaheen R et al.
American Journal of Human Genetics, 2014
Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics.
Tabatabaie L et al.
Human Mutation, 2009
Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: outcome of treatment with amino acids.
De Koning TJ et al.
Journal of Inherited Metabolic Disease, 2002
V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzyme.
Pind S et al.
The Journal of Biological Chemistry, 2002
Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis.
Klomp LW et al.
American Journal of Human Genetics, 2000
Biochemical and cellular studies of three human 3-phosphoglycerate dehydrogenase variants responsible for pathological reduced L-serine levels.
Murtas G et al.
Biofactors (oxford, England), 0