Associated Papers
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
Transcriptomic analysis identifies dysregulated pathways and therapeutic targets in PMM2-CDG.
Gallego D et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 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
Landscape of pathogenic mutations in premature ovarian insufficiency.
Ke H et al.
Nature Medicine, 2023
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
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT et al.
Npj Genomic Medicine, 2022
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
Anthropometric Phenotype of Patients with PMM2-CDG.
Lipiński P et al.
Children (basel, Switzerland), 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
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 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
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
Gene variants identified by whole-exome sequencing in 33 French women with premature ovarian insufficiency.
Yang X et al.
Journal of Assisted Reproduction and 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
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.
Schiff M et al.
Journal of Medical Genetics, 2017
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
Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG).
de Diego V et al.
Journal of Inherited Metabolic Disease, 2017
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
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.
Serrano M et al.
Orphanet Journal of Rare Diseases, 2015
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
Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation.
Jones MA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening.
Vermeer S et al.
Journal of Neurology, 2007
Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2.
Quelhas D et al.
Annals of Human Genetics, 2007
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
A new insight into PMM2 mutations in the French population.
Le Bizec C et al.
Human Mutation, 2005
Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion.
Schollen E et al.
Journal of Medical Genetics, 2004
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
beta-Trace protein in human cerebrospinal fluid: a diagnostic marker for N-glycosylation defects in brain.
Grünewald S et al.
Biochimica Et Biophysica Acta, 1999
Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2.
Pirard M et al.
Febs Letters, 1999
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
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).
Matthijs G et al.
Nature Genetics, 1997
Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future.
Edmondson AC et al.
Molecular Genetics and Metabolism, 0