V490M, a Common Mutation in 3-Phosphoglycerate Dehydrogenase Deficiency, Causes Enzyme Deficiency by Decreasing the Yield of Mature Enzyme-Reference-Cited by-同舟云学术

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V490M, a Common Mutation in 3-Phosphoglycerate Dehydrogenase Deficiency, Causes Enzyme Deficiency by Decreasing the Yield of Mature Enzyme

Published:2002-03 Issue:9 Volume:277 Page:7136-7143
ISSN:0021-9258
Container-title:Journal of Biological Chemistry
language:en
Short-container-title:Journal of Biological Chemistry

Author:

Pind Steven,Slominski Elzbieta,Mauthe Jill,Pearlman Kayla,Swoboda Kathryn J.,Wilkins John A.,Sauder Patricia,Natowicz Marvin R.

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry

Reference50 articles.

1. 3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis.

2. Beneficial effects ofL-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency

3. 3-phosphoglycerate dehydrogenase deficiency in a patient with West syndrome

4. Molecular Characterization of 3-Phosphoglycerate Dehydrogenase Deficiency—a Neurometabolic Disorder Associated with Reduced L-Serine Biosynthesis

5. Hypomyelination and Reversible White Matter Attenuation in 3-Phosphoglycerate Dehydrogenase Deficiency

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1. On the quaternary structure of human D‐3‐phosphoglycerate dehydrogenase;Protein Science;2024-07-16

2. Integrated of multi-omics and molecular docking reveal PHGDH, PSAT1 and PSPH in the serine synthetic pathway as potential targets of T-2 toxin exposure in pig intestinal tract;International Journal of Biological Macromolecules;2023-12

3. Biochemical and cellular studies of three human 3‐phosphoglycerate dehydrogenase variants responsible for pathological reduced L‐serine levels;BioFactors;2023-08-31

4. Mild phenotypes of phosphoglycerate dehydrogenase deficiency by a novel mutation of PHGDH gene: Case report and literature review;International Journal of Developmental Neuroscience;2022-11-09

5. Characterization of ETFDH and PHGDH Mutations in a Patient with Mild Glutaric Aciduria Type II and Serine Deficiency;Genes;2021-05-08

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