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
PMM2-CDG T237M Mutation in a Patient with Cerebral Palsy-Like Phenotypes Reported from South India [PDF]
Global Medical Genetics, 2023 Congenital disorder of glycosylation (CDG) is an autosomal recessively inherited disorder. Hypotonia, stroke-like episodes, and peripheral neuropathy are also associated with the condition that typically develops during infancy.
N. Sreedevi +4 more
doaj +2 more sources
Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study [PDF]
Orphanet Journal of Rare Diseases, 2021 A recent report on long-term dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG) claimed improved glycosylation and called for double-blind randomized study of the dietary supplement in PMM2-CDG patients.
Peter Witters +8 more
doaj +2 more sources
Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (PMM2-CDG). [PDF]
J Inherit Metab DisAbstract PMM2‐CDG (formerly CDG‐1a), the most common type of congenital disorders of glycosylation, is inherited in an autosomal recessive pattern. PMM2‐CDG frequently presents in infancy with multisystemic clinical involvement, and it has been diagnosed in over 1000 people worldwide.
Weixel T +6 more
europepmc +2 more sources
Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study [PDF]
Scientific Reports, 2023 Phosphomannomutase deficiency (PMM2-CDG) leads to cerebellar atrophy with ataxia, dysmetria, and intellectual deficits. Despite advances in therapy, the cognitive and adaptive profile remains unknown.
Florencia Epifani +16 more
doaj +2 more sources
Retinal characteristics of the congenital disorder of glycosylation PMM2‐CDG
Journal of Inherited Metabolic Disease, 2013 AbstractThe congenital disorder of glycosylation, PMM2‐CDG, is associated with progressive photoreceptor degeneration, which causes a pigmentary retinopathy. We identified a sibling pair, mildly affected with PMM2‐CDG, who showed preserved photoreceptor function, but profound deficits of the ‘on‐pathway’ in the retina. This localises the site of early,
Dorothy A, Thompson +5 more
openaire +3 more sources
Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway [PDF]
Orphanet Journal of Rare Diseases, 2020 Background Congenital disorders of glycosylation (CDG) are rare diseases with impaired glycosylation and multiorgan disfunction, including hemostatic and inflammatory disorders.
Raquel López-Gálvez +10 more
doaj +2 more sources
Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects [PDF]
Molecular Genetics and Metabolism Reports, 2020 Variants in Phosphomannomutase 2 (PMM2) lead to PMM2-CDG, the most frequent congenital disorder of glycosylation (CDG). We here describe the disease course of a ten-month old patient who presented with the classical PMM2-CDG symptoms as cerebellar ...
Marlen Görlacher +12 more
doaj +2 more sources
PMM2-CDG: Phenotype and genotype in four affected family members
Gene, 2013 Congenital disorders of glycosylation (CDG) are genetic defects in protein and lipid glycosylation. PMM2-CDG is the most prevalent protein N-glycosylation disorder with more than 700 reported patients. Here we report on a large Italian family with four affected members and three mutations.
Bortot, Barbara +6 more
openaire +4 more sources
Sugar-bisphosphates to cure PMM2-CDG?
, 2021 INTRODUCTION PMM2-CDG is the most common congenital disorder of glycosylation (CDGs). It is caused by mutations in the gene PMM2, encoding the enzyme phosphomannomutase-2 (PMM2). A defective PMM2 leads to GDP- mannose deficiency and hypoglycosylation of numerous glycoproteins. At the present, PMM2-CDG has no cure. The use of pharmacological chaperones (
M. Allocca +3 more
openaire +2 more sources