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
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
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
Transcriptomic analysis identifies dysregulated pathways and therapeutic targets in PMM2-CDG.
Gallego D et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 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
Congenital disorders of glycosylation: narration of a story through its patents.
Monticelli M et al.
Orphanet Journal of Rare Diseases, 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
Chemical Therapies for Congenital Disorders of Glycosylation.
Sosicka P et al.
Acs Chemical Biology, 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
Systematic Review: Drug Repositioning for Congenital Disorders of Glycosylation (CDG).
Brasil S et al.
International Journal of Molecular Sciences, 2022
Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.
Abu Bakar N et al.
Journal of Inherited Metabolic Disease, 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
Assessing the effects of PMM2 variants on protein stability.
Quelhas D et al.
Molecular Genetics and Metabolism, 2021
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
New and potential strategies for the treatment of PMM2-CDG.
Gámez A et al.
Biochimica Et Biophysica Acta. General Subjects, 2020
Second-Generation Pharmacological Chaperones: Beyond Inhibitors.
Tran ML et al.
Molecules (basel, Switzerland), 2020
New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach.
Francisco R et al.
Journal of Clinical Medicine, 2020
Proteostasis regulators as potential rescuers of PMM2 activity.
Vilas A et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2020
PMM2-CDG caused by uniparental disomy: Case report and literature review.
Vaes L et al.
Jimd Reports, 2020
In Vitro Fertilisation (IVF) Associated with Preimplantation Genetic Testing for Monogenic Diseases (PGT-M) in a Romanian Carrier Couple for Congenital Disorder of Glycosylation Type Ia (CDG-Ia): A Case Report.
Doroftei B et al.
Genes, 2020
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
From gestalt to gene: early predictive dysmorphic features of PMM2-CDG.
Martinez-Monseny A et al.
Journal of Medical Genetics, 2019
Congenital disorders of glycosylation (CDG): Quo vadis?
Péanne R et al.
European Journal of Medical Genetics, 2018
CDG Therapies: From Bench to Bedside.
Brasil S et al.
International Journal of Molecular Sciences, 2018
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
The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients.
Vals MA et al.
Jimd Reports, 2018
Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG.
Yuste-Checa P et al.
Human Mutation, 2017
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
Conformational response to ligand binding in phosphomannomutase2: insights into inborn glycosylation disorder.
Andreotti G et al.
The Journal of Biological Chemistry, 2014
Congenital disorders of glycosylation with neonatal presentation.
Resende C et al.
Bmj Case Reports, 2014
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
Congenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency.
Shanti B et al.
Journal of Inherited Metabolic Disease, 2009
The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia).
Grünewald S
Biochimica Et Biophysica Acta, 2009
Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia.
Vega AI et al.
Human Mutation, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Congenital disorder of glycosylation Ia: new differentially expressed proteins identified by 2-DE.
Richard E et al.
Biochemical and Biophysical Research Communications, 2009
Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2.
Quelhas D et al.
Annals of Human Genetics, 2007
Congenital disorder of glycosylation type Ia presenting with hydrops fetalis.
van de Kamp JM et al.
Journal of Medical Genetics, 2007
[Congenital disorders of glycosylation. Their diagnosis and treatment].
Pérez-Cerdá C et al.
Revista De Neurologia, 2006
The X-ray crystal structures of human alpha-phosphomannomutase 1 reveal the structural basis of congenital disorder of glycosylation type 1a.
Silvaggi NR et al.
The Journal of Biological Chemistry, 2006
PMM2 intronic branch-site mutations in CDG-Ia.
Vuillaumier-Barrot S et al.
Molecular Genetics and Metabolism, 2006
A new insight into PMM2 mutations in the French population.
Le Bizec C et al.
Human Mutation, 2005
Unusual presentation of congenital disorder of glycosylation type 1a: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema.
Noelle V et al.
European Journal of Pediatrics, 2005