Associated Papers
Computational studies on the functional and structural impact of pathogenic mutations in enzymes.
Dissanayake UC et al.
Protein Science : a Publication of the Protein Society, 2025
Coagulation abnormalities and vascular complications are common in PGM1-CDG.
Radenkovic S et al.
Molecular Genetics and Metabolism, 2024
38968673 (PubMed )
Supplement: NIHMS2125712-supplement-Supplementary_material.xlsx › Sup_Tab_1
Destabilization and Degradation of a Disease-Linked PGM1 Protein Variant.
Gouliaev F et al.
Biochemistry, 2024
38743592 (PubMed )
Supplement: bi4c00042_si_002.xlsx › Sheet1
A missense variant remote from the active site impairs stability of human phosphoglucomutase 1.
Stiers KM et al.
Journal of Inherited Metabolic Disease, 2020
Congenital disorder of glycosylation type 1T with a novel truncated homozygous mutation in PGM1 gene and literature review.
Tian WT et al.
Neuromuscular Disorders : Nmd, 2019
Sequence-structure relationships, expression profiles, and disease-associated mutations in the paralogs of phosphoglucomutase 1.
Muenks AG et al.
Plos One, 2017
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.
Wong SY et al.
The Journal of Pediatrics, 2016
Mutations in hereditary phosphoglucomutase 1 deficiency map to key regions of enzyme structure and function.
Beamer LJ
Journal of Inherited Metabolic Disease, 2015
Compromised catalysis and potential folding defects in in vitro studies of missense mutants associated with hereditary phosphoglucomutase 1 deficiency.
Lee Y et al.
The Journal of Biological Chemistry, 2014
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