Associated Papers
Exploring a Circulating miRNA Signature for PMM2-CDG: Initial Insights Toward Diagnosis, Stratification, and Monitoring.
Epifani F et al.
Journal of Inherited Metabolic Disease, 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
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
Dissecting the transcriptional program of phosphomannomutase 2-deficient cells: Lymphoblastoide B cell lines as a valuable model for congenital disorders of glycosylation studies.
Parrado A et al.
Glycobiology, 2022
Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population.
Lipiński P et al.
Molecular Genetics and Metabolism Reports, 2021
Identification of potential inhibitors against pathogenic missense mutations of PMM2 using a structure-based virtual screening approach.
Thirumal Kumar D et al.
Journal of Biomolecular Structure & Dynamics, 2021
A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG).
Serrano NL et al.
Orphanet Journal of Rare Diseases, 2017
Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG).
García-López R et al.
Plos One, 2016
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.
Serrano M et al.
Orphanet Journal of Rare Diseases, 2015
Proteomic analysis of platelet N-glycoproteins in PMM2-CDG patients.
de la Morena-Barrio ME et al.
Thrombosis Research, 2014
GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.
de la Morena-Barrio ME et al.
Orphanet Journal of Rare Diseases, 2013
Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.
Vega AI et al.
Journal of Inherited Metabolic Disease, 2011
The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutations.
Pérez B et al.
Jimd Reports, 2011
Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future.
Edmondson AC et al.
Molecular Genetics and Metabolism, 0