Associated Papers
PGM1 deficiency is linked to sarcomeric and mitochondrial dysfunction in patient-derived iPSC-cardiomyocytes.
Radenkovic S et al.
Journal of Translational Medicine, 2026
Are viral vector-mediated therapies compatible with aberrant glycosylation?
Muffels IJJ et al.
Molecular Therapy. Methods & Clinical Development, 2025
PGM1 deficiency disrupts sarcomere and mitochondrial function in a stem-cell cardiomyocyte model.
Radenkovic S et al.
Biorxiv : the Preprint Server for Biology, 2025
Complex Metabolomic Changes in a Combined Defect of Glycosylation and Oxidative Phosphorylation in a Patient with Pathogenic Variants in PGM1 and NDUFA13.
Radenkovic S et al.
Cells, 2025
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
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
Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency.
Abu Bakar N et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 2018
Sequence-structure relationships, expression profiles, and disease-associated mutations in the paralogs of phosphoglucomutase 1.
Muenks AG et al.
Plos One, 2017
PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure.
Zeevaert R et al.
Acta Clinica Belgica, 2016
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