Associated Papers
RNA-binding activity of PHGDH drives amyloid-beta production in a human brain organoid model of sporadic Alzheimer's disease.
Chen J et al.
Proceedings of the National Academy of Sciences of the United States of America, 2026
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
Long-surviving Neu-Laxova syndrome confirmed by whole exome sequencing: a case report.
Kong CW et al.
Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2024
Characterization of the genomic alterations in poorly differentiated thyroid cancer.
Lee Y et al.
Scientific Reports, 2023
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
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 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
Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies-Experience from a Local Prenatal Diagnostic Laboratory.
Lai THT et al.
Healthcare (basel, Switzerland), 2022
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE et al.
Genome Medicine, 2021
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
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.
Abdelfattah F et al.
Human Mutation, 2020
Genomic and phenotypic delineation of congenital microcephaly.
Shaheen R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly.
Poli A et al.
American Journal of Medical Genetics. Part A, 2017
On the phenotypic spectrum of serine biosynthesis defects.
El-Hattab AW et al.
Journal of Inherited Metabolic Disease, 2016
A Common Mutation and a Novel Mutation in the HPGD Gene in Nine Patients with Primary Hypertrophic Osteoarthropathy.
Yuan L et al.
Calcified Tissue International, 2015
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
Dimerization of PHGDH via the catalytic unit is essential for its enzymatic function.
Xu H et al.
The Journal of Biological Chemistry, 0