Associated Papers
Prenatal diagnosis of Neu-Laxova syndrome with compound heterozygous variants in PHGDH in a fetus presenting increased nuchal translucency and severe early-onset fetal growth restriction in a dichorionic diamniotic twin pregnancy.
Luo W et al.
Taiwanese Journal of Obstetrics & Gynecology, 2026
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
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 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
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.
Waldman S et al.
Cell, 2022
Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease.
Eade K et al.
Nature Metabolism, 2021
L-serine synthesis via the phosphorylated pathway in humans.
Murtas G et al.
Cellular and Molecular Life Sciences : Cmls, 2020
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.
Abdelfattah F et al.
Human Mutation, 2020
D-3-Phosphoglycerate Dehydrogenase.
Grant GA
Frontiers in Molecular Biosciences, 2018
Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly.
Poli A et al.
American Journal of Medical Genetics. Part A, 2017
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
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
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
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
Proteome-wide analysis of nonsynonymous single-nucleotide variations in active sites of human proteins.
Dingerdissen H et al.
The Febs Journal, 2013
Phosphoglycerate dehydrogenase diverts glycolytic flux and contributes to oncogenesis.
Locasale JW et al.
Nature Genetics, 2011
L-serine synthesis in the central nervous system: a review on serine deficiency disorders.
Tabatabaie L et al.
Molecular Genetics and Metabolism, 2010
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
Inactivation of the 3-phosphoglycerate dehydrogenase gene in mice: changes in gene expression and associated regulatory networks resulting from serine deficiency.
Furuya S et al.
Functional & Integrative Genomics, 2008
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
Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency.
de Koning TJ et al.
Lancet (london, England), 0
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