ArticleThe Journal of biological chemistry2014
Compromised catalysis and potential folding defects in in vitro studies of missense mutants associated with hereditary phosphoglucomutase 1 deficiency.
Article in The Journal of biological chemistry, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it.
- International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.Journal of inherited metabolic disease · 2021Guideline
- Oral D-galactose supplementation in PGM1-CDG.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Trial
- PGM1 deficiency is linked to sarcomeric and mitochondrial dysfunction in patient-derived iPSC-cardiomyocytes.Journal of translational medicine · 2026Article
- Duplex Probe-Based Fluorescence Melting Curve Analysis for Simultaneous Genotyping of rs1126728 and rs11208257 in the Phosphoglucomutase-1 Gene.Diagnostics (Basel, Switzerland) · 2025Article
- Proteomic and phosphoproteomic analysis reveal threonine deficiency increases hepatic lipid deposition in Pekin ducks via reducing STAT phosphorylation.Animal nutrition (Zhongguo xu mu shou yi xue hui) · 2023Article
- Metabolic reprogramming underlies cavefish muscular endurance despite loss of muscle mass and contractility.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Glycine-Induced Phosphorylation Plays a Pivotal Role in Energy Metabolism in Roots and Amino Acid Metabolism in Leaves of Tea Plant.Foods (Basel, Switzerland) · 2023Article
- Mechanisms of coordinating hyaluronan and glycosaminoglycan production by nucleotide sugars.American journal of physiology. Cell physiology · 2022Review
- Effects of the T337M and G391V disease-related variants on human phosphoglucomutase 1: structural disruptions large and small.Acta crystallographica. Section F, Structural biology communications · 2022Article
- Obesogenic Diets Cause Alterations on Proteins and Theirs Post-Translational Modifications in Mouse Brains.Nutrition and metabolic insights · 2021Article
- Structure and Characterization of Phosphoglucomutase 5 from Atlantic and Baltic Herring-An Inactive Enzyme with Intact Substrate Binding.Biomolecules · 2020Article
- Structural and dynamical description of the enzymatic reaction of a phosphohexomutase.Structural dynamics (Melville, N.Y.) · 2019Article
- Glucose-dependent phosphorylation signaling pathways and crosstalk to mitochondrial respiration in insulin secreting cells.Cell communication and signaling : CCS · 2019Article
- Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion.JIMD reports · 2019Article
- A Hotspot for Disease-Associated Variants of Human PGM1 Is Associated with Impaired Ligand Binding and Loop Dynamics.Structure (London, England : 1993) · 2018Article
- Mechanistic Insights on Human Phosphoglucomutase Revealed by Transition Path Sampling and Molecular Dynamics Calculations.Chemistry (Weinheim an der Bergstrasse, Germany) · 2018Article
- Phosphorylation-Dependent Effects on the Structural Flexibility of Phosphoglucosamine Mutase fromACS omega · 2017Article
- Asp263 missense variants perturb the active site of human phosphoglucomutase 1.The FEBS journal · 2017Article
- Data on the phosphorylation state of the catalytic serine of enzymes in the α-D-phosphohexomutase superfamily.Data in brief · 2017Article
- Biology, Mechanism, and Structure of Enzymes in the α-d-Phosphohexomutase Superfamily.Advances in protein chemistry and structural biology · 2017Article
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4 authors.
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Abstract
Recent studies have identified phosphoglucomutase 1 (PGM1) deficiency as an inherited metabolic disorder in humans. Affected patients show multiple disease phenotypes, including dilated cardiomyopathy, exercise intolerance, and hepatopathy, reflecting the central role of the enzyme in glucose metabolism. We present here the first in vitro biochemical characterization of 13 missense mutations involved in PGM1 deficiency. The biochemical phenotypes of the PGM1 mutants cluster into two groups: those with compromised catalysis and those with possible folding defects. Relative to the recombinant wild-type enzyme, certain missense mutants show greatly decreased expression of soluble protein and/or increased aggregation. In contrast, other missense variants are well behaved in solution, but show dramatic reductions in enzyme activity, with kcat/Km often <1.5% of wild-type. Modest changes in protein conformation and flexibility are also apparent in some of the catalytically impaired variants. In the case of the G291R mutant, severely compromised activity is linked to the inability of a key active site serine to be phosphorylated, a prerequisite for catalysis. Our results complement previous in vivo studies, which suggest that both protein misfolding and catalytic impairment may play a role in PGM1 deficiency.
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