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
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
Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (PMM2-CDG).
Weixel T et al.
Journal of Inherited Metabolic Disease, 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
Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study.
Epifani F et al.
Scientific Reports, 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
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
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
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
AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG).
Martínez-Monseny AF et al.
Annals of Neurology, 2019
Protein misfolding diseases: Prospects of pharmacological treatment.
Gámez A et al.
Clinical Genetics, 2018
Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.
Izquierdo-Serra M et al.
International Journal of Molecular Sciences, 2018
RNA Editing and Retrotransposons in Neurology.
Krestel H et al.
Frontiers in Molecular Neuroscience, 2018
Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG.
Yuste-Checa P et al.
Human Mutation, 2017
Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG).
García-López R et al.
Plos One, 2016
The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.
Yuste-Checa P et al.
Human Mutation, 2015
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
Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestations.
Pérez-Dueñas B et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2009
Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.
Schollen E et al.
Molecular Genetics and Metabolism, 2007
[Congenital disorders of glycosylation. Their diagnosis and treatment].
Pérez-Cerdá C et al.
Revista De Neurologia, 2006
Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia.
Briones P et al.
Journal of Inherited Metabolic Disease, 2002
DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG).
Schollen E et al.
European Journal of Human Genetics : Ejhg, 2002
High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).
Grünewald S et al.
American Journal of Human Genetics, 2001
Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).
Matthijs G et al.
Human Mutation, 2000
Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.
Matthijs G et al.
American Journal of Human Genetics, 1998
[Human fibroblast bank for studying amino acid disorders and organic acidemias].
del Valle JA et al.
Revista Espanola De Fisiologia, 1982
HepG2 PMM2-CDG knockout model: A versatile platform for variant and therapeutic evaluation.
Vilas A et al.
Molecular Genetics and Metabolism, 0