Results 21 to 30 of about 2,410 (179)
Genotype-Phenotype Correlations in PMM2-CDG [PDF]
Genes, 2021 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.
Nele Vanhoutvin +16 more
core +5 more sources
Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG
Genes, 2023 Congenital disorders of glycosylation (CDG) and mitochondrial disorders are multisystem disorders with overlapping symptomatology. Pathogenic variants in the PMM2 gene lead to abnormal N-linked glycosylation.
Akhilesh Pandey +12 more
core +3 more sources
Annals of Neurology, 2019 OBJECTIVE: Phosphomannomutase deficiency (PMM2 congenital disorder of glycosylation [PMM2-CDG]) causes cerebellar syndrome and strokelike episodes (SLEs).
Freniche, Veronica +16 more
core +5 more sources
Pediatric Reports, 2022 Background: Hyperinsulinemic hypoglycemia (HH) is an important cause of persistent hypoglycemia in newborns and infants. Recently, PMM2 (phosphomannomutase 2) mutation has been associated with HH, especially in conjunction with polycystic kidney disease (
Ratna Acharya, Kiran Upadhyay
doaj +2 more sources
Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report [PDF]
Frontiers in Genetics, 2020 Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases with the phosphomannomutase 2 (PMM2)-CDG being the most common form of CDG.
Katerina Slaba +14 more
doaj +3 more sources
Thrombotic complications in patients with PMM2-CDG
Molecular Genetics and Metabolism, 2013 Item does not contain fulltextMany proteins regulating coagulation, including factor IX, factor XI, Antithrombin-III, Protein C and Protein S are deficient or decreased in activity in congenital disorders of glycosylation (CDG).
Mohamed, M. +5 more
core +4 more sources
Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models
Cell ReportsSummary: Phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG) is a rare inborn error of metabolism caused by deficiency of the PMM2 enzyme, which leads to impaired protein glycosylation.
Silvia Radenkovic +13 more
doaj +2 more sources
Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation PMM2-CDG [PDF]
Disease Models & Mechanisms, 2019 Phosphomannomutase 2 deficiency, or PMM2-CDG, is the most common congenital disorder of glycosylation and affects over 1000 patients globally. There are no approved drugs that treat the symptoms or root cause of PMM2-CDG.
Sangeetha Iyer +10 more
doaj +2 more sources
Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG). [PDF]
PLoS ONE, 2016 PMM2-CDG is the most common N-glycosylation defect and shows an increased risk of recurrent and/or severe, sometimes fatal, infections in early life. We hypothesized that natural killer (NK) cells, as important mediators of the immune response against ...
Roberto García-López +7 more
doaj +3 more sources
Phosphomannomutase deficiency (PMM2-CDG): Ataxia and cerebellar assessment [PDF]
Orphanet Journal of Rare Diseases, 2015 Background: Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, and cerebellar dysfunction is ...
Pérez, Belén +53 more
core +7 more sources