Compromised Catalysis and Potential Folding Defects in in Vitro Studies of Missense Mutants Associated with Hereditary Phosphoglucomutase 1 Deficiency*
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Summary
The first in vitro biochemical characterization of 13 missense mutations involved in PGM1 deficiency shows compromised catalysis and differential effects on recombinant protein folding/stability are found, suggesting both protein misfolding and catalytic impairment may play a role in the disorder.
- Type
- article
- Published
- 2014-10-06
- Cited by
- 45
- References
- 34
- Access
- Open access
- OpenAlex
- https://openalex.org/W25288802
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:22890616
Keywords
Mathematical economics, Economics, Computer science, Neoclassical economics
References
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- Comparison between medium‐chain acyl‐CoA dehydrogenase mutant proteins overexpressed in bacterial and mammalian cells
- Characterization of vanadate-based transition-state-analogue complexes of phosphoglucomutase by spectral and NMR techniques.
- Protein misfolding disorders: Pathogenesis and intervention
- Pharmacological chaperones as therapeutics for lysosomal storage diseases.
- Promotion of Enzyme Flexibility by Dephosphorylation and Coupling to the Catalytic Mechanism of a Phosphohexomutase*
- Rescue of Cystathionine β-Synthase (CBS) Mutants with Chemical Chaperones
- Phosphoglucomutase Genetic Polymorphism and Body Mass
- New strategies for the treatment of lysosomal storage diseases (review).
- Mutations in hereditary phosphoglucomutase 1 deficiency map to key regions of enzyme structure and function
- Reaction mechanism of phosphoglucosamine mutase from Escherichia coli.
- Regulation of phosphoglucomutase 1 phosphorylation and activity by a signaling kinase
- Intragenic recombination at the human phosphoglucomutase 1 locus: predictions fulfilled.
- Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG
- Structure of rabbit muscle phosphoglucomutase refined at 2.4 A resolution.
- A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene
- Muscle glycogenosis due to phosphoglucomutase 1 deficiency.
- A phylogenetic approach to the identification of phosphoglucomutase genes.
- A kinetic study of the isozymes determined by the three human phosphoglucomutase loci PGM1, PGM2, and PGM3.
- Phenylketonuria as a protein misfolding disease: The mutation pG46S in phenylalanine hydroxylase promotes self-association and fibril formation.
Cited by
- Personalized Biochemistry and Biophysics
- Phosphoglucomutase‐1 deficiency: Intrafamilial clinical variability and common secondary adrenal insufficiency
- The Effect of Weight Loss on the Muscle Proteome in the Damara, Dorper and Australian Merino Ovine Breeds
- Glycogen metabolism in humans☆☆☆
- Induced structural disorder as a molecular mechanism for enzyme dysfunction in phosphoglucomutase 1 deficiency
- Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase
- Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.
- Identification of potential genes for human ischemic cardiomyopathy based on RNA-Seq data
- Data on the phosphorylation state of the catalytic serine of enzymes in the α-D-phosphohexomutase superfamily
- Asp263 missense variants perturb the active site of human phosphoglucomutase 1 (PGM1)
- Biology, mechanism, and structure of enzymes in the α-D-phosphohexomutase superfamily
- Phosphoglucomutase 1 (PGM1) expression and regulation in cancer cells
- ORAL D-GALACTOSE SUPPLEMENTATION IN PGM1-CDG
- Sequence-structure relationships, expression profiles, and disease-associated mutations in the paralogs of phosphoglucomutase 1
- Phosphorylation-Dependent Effects on the Structural Flexibility of Phosphoglucosamine Mutase from Bacillus anthracis
- Comprehensive quantification of the modified proteome reveals oxidative heart damage in mitochondrial heteroplasmy
- Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion.
- A hotspot for disease-associated variants of human PGM1 is associated with impaired ligand binding and loop dynamics
- Assessment and Impacts of Phosphorylation on Protein Flexibility of the α-d-Phosphohexomutases.
- Structural Principles Governing Disease-Causing Germline Mutations.
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