Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis.
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Mutations responsible for 3-phosphoserine phosphatase deficiencyCharacterization of human phosphoserine aminotransferase involved in the phosphorylated pathway of L-serine biosynthesisDefining the role of essential genes in human diseaseNeu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathwayk-OptForce: integrating kinetics with flux balance analysis for strain designClinical review of genetic epileptic encephalopathiesOncogene activation induces metabolic transformation resulting in insulin-independence in human breast cancer cells.V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzyme.Brain-specific Phgdh deletion reveals a pivotal role for L-serine biosynthesis in controlling the level of D-serine, an N-methyl-D-aspartate receptor co-agonist, in adult brain.L-serine in disease and developmentL-Serine Deficiency Elicits Intracellular Accumulation of Cytotoxic Deoxysphingolipids and Lipid Body Formation.The Effect of Oxytocin on Social and Non-Social Behaviour and Striatal Protein Expression in C57BL/6N Mice.A world of sphingolipids and glycolipids in the brain--novel functions of simple lipids modified with glucose.On the phenotypic spectrum of serine biosynthesis defects.The Rise and Fall of the d-Serine-Mediated Gliotransmission Hypothesis.Proteome-wide analysis of nonsynonymous single-nucleotide variations in active sites of human proteins.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.Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria.Changes in the striatal proteome of YAC128Q mice exhibit gene-environment interactions between mutant huntingtin and manganese.Overexpression of halophilic serine hydroxymethyltransferase in fresh water cyanobacterium Synechococcus elongatus PCC7942 results in increased enzyme activities of serine biosynthetic pathways and enhanced salinity tolerance.L-serine deficiency caused by genetic Phgdh deletion leads to robust induction of 4E-BP1 and subsequent repression of translation initiation in the developing central nervous system.De-regulation of D-3-phosphoglycerate dehydrogenase by domain removal.Astrocytes in Primary Cultures Express Serine Racemase, Synthesize D-Serine and Acquire A1 Reactive Astrocyte Features.Physiology of Astroglia.
P2860
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P2860
Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis.
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2000 nî lūn-bûn
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2000 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
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2000 թվականի հոտեմբերին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
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2000年論文
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name
Molecular characterization of ...... reduced L-serine biosynthesis
@nl
Molecular characterization of ...... reduced L-serine biosynthesis.
@ast
Molecular characterization of ...... reduced L-serine biosynthesis.
@en
type
label
Molecular characterization of ...... reduced L-serine biosynthesis
@nl
Molecular characterization of ...... reduced L-serine biosynthesis.
@ast
Molecular characterization of ...... reduced L-serine biosynthesis.
@en
prefLabel
Molecular characterization of ...... reduced L-serine biosynthesis
@nl
Molecular characterization of ...... reduced L-serine biosynthesis.
@ast
Molecular characterization of ...... reduced L-serine biosynthesis.
@en
P2093
P2860
P356
P1476
Molecular characterization of ...... reduced L-serine biosynthesis.
@en
P2093
B T Poll-The
E A van Beurden
H E Malingré
I E van den Berg
L Van Maldergem
P2860
P304
P356
10.1086/316886
P407
P577
2000-10-27T00:00:00Z