Identification through exome sequencing of the first PMM2-CDG individual of Mexican mestizo origin
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2020.100637
Abstract: Congenital Disorders of Glycosylation (CDG) are scarcely reported from Latin America. We here report on a Mexican mestizo with a multi-systemic syndrome including neurological involvement and a type I transferrin (Tf) isoelectric focusing (IEF) pattern.… read more here.
Keywords: cdg; first pmm2; exome sequencing; mexican mestizo ... See more keywords
Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?
Sign Up to like & getrecommendations! Published in 2018 at "Genetics in Medicine"
DOI: 10.1038/s41436-018-0301-4
Abstract: PurposePMM2-CDG is the most common congenital disorder of glycosylation (CDG), which presents with either a neurologic or multisystem phenotype. Little is known about the longitudinal evolution.MethodsWe performed data analysis on PMM2-CDG patients’ clinical features according… read more here.
Keywords: cdg; follow pmm2; term follow; long term ... See more keywords
Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2‐CDG
Sign Up to like & getrecommendations! Published in 2018 at "Neuropediatrics"
DOI: 10.1055/s-0038-1673332
Abstract: &NA; Phosphomannomutase deficiency (PMM2‐CDG) causes a cerebellar syndrome that has been evaluated using the International Cooperative Ataxia Rating Scale (ICARS). However, no particular dysarthria tests have been used. Speech ICARS subscore subjectively assesses fluency and… read more here.
Keywords: pmm2 cdg; dysarthria; pata rate;
A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)
Sign Up to like & getrecommendations! Published in 2017 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-017-0707-0
Abstract: BackgroundWe aim to delineate the progression of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) using the International Cooperative Ataxia Rating Scale (ICARS). We sought correlation between cerebellar volumetry and clinical situation. We prospectively evaluated PMM2-CDG… read more here.
Keywords: cdg; children phosphomannomutase; syndrome children; cerebellar syndrome ... See more keywords
Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway
Sign Up to like & getrecommendations! Published in 2020 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-020-01564-9
Abstract: Background Congenital disorders of glycosylation (CDG) are rare diseases with impaired glycosylation and multiorgan disfunction, including hemostatic and inflammatory disorders. Factor XII (FXII), the first element of the contact phase, has an emerging role in… read more here.
Keywords: cdg patients; secretion; glycosylation; pmm2 cdg ... See more keywords
A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP: Possible implications for the disease PMM2-CDG
Sign Up to like & getrecommendations! Published in 2017 at "PLoS ONE"
DOI: 10.1371/journal.pone.0189629
Abstract: The most frequent disorder of glycosylation, PMM2-CDG, is caused by a deficiency of phosphomannomutase activity. In humans two paralogous enzymes exist, both of them require mannose 1,6-bis-phosphate or glucose 1,6-bis-phosphate as activators, but only phospho-mannomutase1… read more here.
Keywords: pmm2 cdg; activity; bis phosphate; mutant phosphomannomutase1 ... See more keywords
Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation.
Sign Up to like & getrecommendations! Published in 2023 at "Molecular genetics and metabolism"
DOI: 10.2139/ssrn.4370624
Abstract: BACKGROUND Given the lack of reliable data on the prevalence of bleeding abnormalities and thrombotic episodes in PMM2-CDG patients, and whether coagulation abnormalities change over time, we prospectively collected and reviewed natural history data. Patients… read more here.
Keywords: time; pmm2 cdg; activity; cdg patients ... See more keywords
Evaluation of Cell Models to Study Monocyte Functions in PMM2 Congenital Disorders of Glycosylation
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2022.869031
Abstract: Congenital disorders of glycosylation (CDG) are inherited metabolic diseases characterized by mutations in enzymes involved in different steps of protein glycosylation, leading to aberrant synthesis, attachment or processing of glycans. Recently, immunological dysfunctions in several… read more here.
Keywords: cell; cdg; pmm2 cdg; glycosylation ... See more keywords
Genotype-Phenotype Correlations in PMM2-CDG
Sign Up to like & getrecommendations! Published in 2021 at "Genes"
DOI: 10.3390/genes12111658
Abstract: PMM2-CDG is a rare disease, causing hypoglycosylation of multiple proteins, hence preventing full functionality. So far, no direct genotype–phenotype correlations have been identified. We carried out a retrospective cohort study on 26 PMM2-CDG patients. We… read more here.
Keywords: pmm2 cdg; genotype phenotype; phenotype correlations;
β-Glucose-1,6-Bisphosphate Stabilizes Pathological Phophomannomutase2 Mutants In Vitro and Represents a Lead Compound to Develop Pharmacological Chaperones for the Most Common Disorder of Glycosylation, PMM2-CDG
Sign Up to like & getrecommendations! Published in 2019 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms20174164
Abstract: A large number of mutations causing PMM2-CDG, which is the most frequent disorder of glycosylation, destabilize phosphomannomutase2. We looked for a pharmacological chaperone to cure PMM2-CDG, starting from the structure of a natural ligand of… read more here.
Keywords: glucose bisphosphate; pmm2 cdg; compound;