3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis
about
Mutations responsible for 3-phosphoserine phosphatase deficiencyMutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and HypomyelinationPhosphoserine phosphatase deficiency in a patient with Williams syndrome.Characterization of human phosphoserine aminotransferase involved in the phosphorylated pathway of L-serine biosynthesisMolecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis.A novel balanced chromosomal translocation found in subjects with schizophrenia and schizotypal personality disorder: altered l-serine level associated with disruption of PSAT1 gene expressionPhosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathwayHuman L-3-phosphoserine phosphatase: sequence, expression and evidence for a phosphoenzyme intermediateMechanistic studies of phosphoserine phosphatase, an enzyme related to P-type ATPasesA new class of phosphotransferases phosphorylated on an aspartate residue in an amino-terminal DXDX(T/V) motifCloning, sequencing and expression of rat liver 3-phosphoglycerate dehydrogenaseDiscovery of novel allosteric effectors based on the predicted allosteric sites for Escherichia coli D-3-phosphoglycerate dehydrogenaseSPTAN1 encephalopathy: distinct phenotypes and genotypes.Global developmental gene expression and pathway analysis of normal brain development and mouse models of human neuronal migration defectsNeu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzyme.Regulation of serine biosynthesis in Arabidopsis. Crucial role of plastidic 3-phosphoglycerate dehydrogenase in non-photosynthetic tissues.Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiencyMutations affecting the development of the peripheral nervous system in Drosophila: a molecular screen for novel proteins.L-serine in disease and developmentL-serine and glycine serve as major astroglia-derived trophic factors for cerebellar Purkinje neurons.Magnetic resonance imaging pattern recognition in hypomyelinating disordersFatal cerebral edema associated with serine deficiency in CSF.Inborn errors of metabolism causing epilepsy.Serine metabolism: some tumors take the road less traveledOn the phenotypic spectrum of serine biosynthesis defects.Analysis of the mitochondrial proteome of cybrid cells harbouring a truncative mitochondrial DNA mutation in respiratory complex I.Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation.Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges.An update on serine deficiency disorders.R-spondin 1 and noggin facilitate expansion of resident stem cells from non-damaged gallbladders.Prevalence of Epilepsy among Cataract Patients.D-serine influences synaptogenesis in a p19 cell model.L-Serine regulates the activities of microglial cells that express very low level of 3-phosphoglycerate dehydrogenase, an enzyme for L-Serine biosynthesis.Dietary L-serine modifies free amino acid composition of maternal milk and lowers the body weight of the offspring in mice.L-Serine: a Naturally-Occurring Amino Acid with Therapeutic Potential.Vitamin B6 is essential for serine de novo biosynthesis.The Central Role of Amino Acids in Cancer Redox Homeostasis: Vulnerability Points of the Cancer Redox Code.Insulin resistance and glycine metabolism in humans.Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability.
P2860
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P2860
3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis
description
1996 nî lūn-bûn
@nan
1996 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年学术文章
@wuu
1996年学术文章
@zh-cn
1996年学术文章
@zh-hans
1996年学术文章
@zh-my
1996年学术文章
@zh-sg
1996年學術文章
@yue
name
3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis
@ast
3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis
@en
3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis
@en-gb
3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis
@nl
type
label
3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis
@ast
3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis
@en
3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis
@en-gb
3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis
@nl
prefLabel
3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis
@ast
3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis
@en
3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis
@en-gb
3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis
@nl
P2093
P2860
P356
P1476
3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis
@en
P2093
E Van Schaftingen
L Van Maldergem
P2860
P356
10.1136/ADC.74.6.542
P407
P577
1996-06-01T00:00:00Z