Results 41 to 50 of about 1,300 (164)
Evaluation of Cell Models to Study Monocyte Functions in PMM2 Congenital Disorders of Glycosylation
Frontiers in Immunology, 2022 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.
Paola de Haas +10 more
doaj +1 more source
Protease-dependent defects in N-cadherin processing drive PMM2-CDG pathogenesis. [PDF]
JCI Insight, 2021 The genetic bases for the congenital disorders of glycosylation (CDG) continue to expand, but how glycosylation defects cause patient phenotypes remains largely unknown. Here, we combined developmental phenotyping and biochemical studies in a potentially new zebrafish model (pmm2sa10150) of PMM2-CDG to uncover a protease-mediated pathogenic mechanism ...
Klaver EJ +10 more
europepmc +5 more sources
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency? [PDF]
Mol Genet Metab, 2021 PMM2-CDG is the most common congenital disorder of glycosylation (CDG) accounting for almost 65% of known CDG cases affecting N-glycosylation. Abnormalities in N-glycosylation could have a negative impact on many endocrine axes.
Čechová A +17 more
europepmc +4 more sources
Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency
JCRPE, 2022 INTRODUCTION: Phosphomannomutase 2 deficiency (PMM2-CDG) is a disorder of protein N-glycosylation with a wide clinical spectrum. Hypoglycemia is rarely reported in PMM2-CDG.
Doğuş Vurallı +7 more
doaj +1 more source
Molecular Genetics and Metabolism Reports, 2021 Introduction: The incidence and prevalence of congenital disorders of glycosylation (CDG) have not been well established. The aim of the study was to evaluate the prevalence, incidence and genotypes of CDG patients diagnosed during the last 23 years in ...
Patryk Lipiński +2 more
doaj +1 more source
New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach [PDF]
, 2020 SFRH/BD/124326/2016 SFRH/BD/138647/2018Congenital disorders of glycosylation (CDG) are rare diseases with variable phenotypes and severity. Immunological involvement remains a largely uncharted topic in CDG, mainly due to lack of robust data.
Altassan, Ruqaiah +9 more
core +2 more sources
Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients
JIMD Reports, 2020 Background Phosphomannomutase 2 deficiency (PMM2‐CDG) is the most common congenital disorder of glycosylation (CDG). Hypoglycemia has been reported in various CDG including PMM2‐CDG.
Hossein Moravej +10 more
doaj +1 more source
Three families with mild PMM2-CDG and normal cognitive development. [PDF]
Am J Med Genet A, 2017 Congenital disorders of glycosylation (CDG) are caused by defective glycosylation of proteins and lipids. PMM2‐CDG is the most common subtype among the CDG. The severity of PMM2‐CDG is variable. Patients often have a recognizable phenotype with neurological and multisystem symptoms that might cause early death.
Vals MA +6 more
europepmc +5 more sources
Expanding the Spectrum of PMM2-CDG Phenotype [PDF]
, 2011 Congenital Disorders of Glycosylation (CDG) are a group of recently described inborn errors of metabolism affecting glycosylation. CDG are disorders that have been reported with a great variability in the clinical presentation, especially for the most common PMM2-CDG.
Sandrine, Vuillaumier-Barrot +5 more
openaire +2 more sources
Renal involvement in PMM2-CDG, a mini-review [PDF]
Molecular Genetics and Metabolism, 2018 Phosphomannomutase 2 deficiency (PMM2-CDG) is the most common N-linked glycosylation disorder. The majority of patients present with a multisystem phenotype, including central nervous system involvement, hepatopathy, gastrointestinal and cardiac symptoms, endocrine dysfunction and abnormal coagulation.
Altassan, Ruqaiah +7 more
openaire +2 more sources