Associated Papers
A founder variant in Tunisian PMM2-CDG patients: An integrated clinical, radiological, biochemical, and genetic study.
Kraoua L et al.
Molecular Genetics and Metabolism, 2026
PMM2-CDG and the Role of Liver Transplantation as a Long-Term Solution: A Case Report.
Blasingame BA et al.
Pediatric Transplantation, 2026
Suspected Central Adrenal Insufficiency in a Patient with Phosphomannomutase 2-Congenital Disorder of Glycosylation.
Ødum SF et al.
Jcem Case Reports, 2025
Dynamicasome-a molecular dynamics-guided and AI-driven pathogenicity prediction catalogue for all genetic mutations.
Islam NN et al.
Communications Biology, 2025
In Silico Analysis of Phosphomannomutase-2 Dimer Interface Stability and Heterodimerization with Phosphomannomutase-1.
Hay Mele B et al.
Molecules (basel, Switzerland), 2025
Novel mouse model reveals neurodevelopmental origin of PMM2-CDG brain pathology.
Edmondson AC et al.
Biorxiv : the Preprint Server for Biology, 2025
Beneficial effects of Glc-1,6-P2 modulation on mutant phosphomannomutase-2.
Monticelli M et al.
Biochimica Et Biophysica Acta. Molecular Cell Research, 2025
Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes.
Verberkmoes S et al.
Molecular Genetics and Metabolism, 2025
A comprehensive update of genotype-phenotype correlations in PMM2-CDG: insights from molecular and structural analyses.
Oliveira T et al.
Orphanet Journal of Rare Diseases, 2025
Causes of mortality in the congenital disorders of glycosylation.
Alharbi H et al.
Molecular Genetics and Metabolism, 2025
Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (PMM2-CDG).
Weixel T et al.
Journal of Inherited Metabolic Disease, 2025
Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations.
Holubova V et al.
Journal of Inherited Metabolic Disease, 2025
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
Phosphomannomutase 2-congenital disorder of glycosylation: exploring the role of N-glycosylation on the endocrine axes.
Del Medico G et al.
Frontiers in Endocrinology, 2025
Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation.
Zemet R et al.
Molecular Genetics and Metabolism, 2024
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.
Lam C et al.
Molecular Genetics and Metabolism, 2024
Exploring ligand interactions with human phosphomannomutases using recombinant bacterial thermal shift assay and biochemical validation.
Monticelli M et al.
Biochimie, 2024
A complement C4-derived glycopeptide is a biomarker for PMM2-CDG.
Garapati K et al.
Jci Insight, 2024
Revisiting the immunopathology of congenital disorders of glycosylation: an updated review.
Pascoal C et al.
Frontiers in Immunology, 2024
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG.
Pajusalu S et al.
Human Mutation, 2024
An oligogenic case of severe neonatal thrombocytopenia and a purportedly benign variant in GFI1B requiring reinterpretation.
Frenkel M et al.
Platelets, 2023
Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management.
Wicker C et al.
Molecular Genetics and Metabolism, 2023
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Schlüter A et al.
Genome Medicine, 2023
Metabolic adaptation of human skin fibroblasts to ER stress caused by glycosylation defect in PMM2-CDG.
Zdrazilova L et al.
Molecular Genetics and Metabolism, 2023
Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches.
Himmelreich N et al.
Molecular Genetics and Metabolism, 2023
Tracer metabolomics reveals the role of aldose reductase in glycosylation.
Radenkovic S et al.
Cell Reports. Medicine, 2023
Phenotypic screening models for rapid diagnosis of genetic variants and discovery of personalized therapeutics.
Hopkins CE et al.
Molecular Aspects of Medicine, 2023
Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation.
De Graef D et al.
Molecular Genetics and Metabolism, 2023
[Advances in the diagnosis and treatment of phosphomannomutase 2 deficiency].
Zhou SY
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2023
Cysteine Pathogenic Variants of PMM2 Are Sensitive to Environmental Stress with Loss of Structural Stability.
Yu F et al.
Oxidative Medicine and Cellular Longevity, 2023
Chemical Therapies for Congenital Disorders of Glycosylation.
Sosicka P et al.
Acs Chemical Biology, 2022
Evolutionary rescue of phosphomannomutase deficiency in yeast models of human disease.
Vignogna RC et al.
Elife, 2022
A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones.
Segovia-Falquina C et al.
Human Mutation, 2022
Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency
Vurallı D et al.
Journal of Clinical Research in Pediatric Endocrinology, 2022
Systematic Review: Drug Repositioning for Congenital Disorders of Glycosylation (CDG).
Brasil S et al.
International Journal of Molecular Sciences, 2022
Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures.
Briso-Montiano A et al.
Journal of Inherited Metabolic Disease, 2022
Evaluation of Cell Models to Study Monocyte Functions in PMM2 Congenital Disorders of Glycosylation.
de Haas P et al.
Frontiers in Immunology, 2022
Protease-dependent defects in N-cadherin processing drive PMM2-CDG pathogenesis.
Klaver EJ et al.
Jci Insight, 2021
Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications.
Ligezka AN et al.
Annals of Neurology, 2021
Assessing the effects of PMM2 variants on protein stability.
Quelhas D et al.
Molecular Genetics and Metabolism, 2021
Anthropometric Phenotype of Patients with PMM2-CDG.
Lipiński P et al.
Children (basel, Switzerland), 2021
Precision genetic cellular models identify therapies protective against ER stress.
Lebedeva IV et al.
Cell Death & Disease, 2021
Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population.
Lipiński P et al.
Molecular Genetics and Metabolism Reports, 2021