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
Destabilization and Degradation of a Disease-Linked PGM1 Protein Variant.
Gouliaev F et al.
Biochemistry, 2024
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
Altassan R et al.
Journal of Inherited Metabolic Disease, 2021
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
Central nervous involvement is common in PGM1-CDG.
Radenkovic S et al.
Molecular Genetics and Metabolism, 2018
Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.
Bastaki F et al.
Annals of Human Genetics, 2018
Oral D-galactose supplementation in PGM1-CDG.
Wong SY et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Sequence-structure relationships, expression profiles, and disease-associated mutations in the paralogs of phosphoglucomutase 1.
Muenks AG et al.
Plos One, 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.
Wong SY et al.
The Journal of Pediatrics, 2016
Phosphoglucomutase-1 deficiency: Intrafamilial clinical variability and common secondary adrenal insufficiency.
Loewenthal N et al.
American Journal of Medical Genetics. Part A, 2015
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