PMM2‐CDG and nephrotic syndrome: A case report
Clinical Case Reports, 2022 Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, characterized by a defect in the protein glycosylation process. Enzymes involved in this metabolic mechanism have ubiquitous distribution; thus, their alteration can ...
Giuseppe Banderali +3 more
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Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG
Molecular Genetics and Metabolism Reports, 2021 We report on a Mexican mestizo with a multisystemic syndrome including neurological involvement and a type I serum transferrin isoelectric focusing (Tf IEF) pattern.
C.A. González-Domínguez +16 more
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Insufficient ER-stress response causes selective mouse cerebellar granule cell degeneration resembling that seen in congenital disorders of glycosylation [PDF]
, 2013 BACKGROUND: Congenital disorders of glycosylation (CDGs) are inherited diseases caused by glycosylation defects. Incorrectly glycosylated proteins induce protein misfolding and endoplasmic reticulum (ER) stress.
Huaxi Xu +5 more
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PMM2-CDG T237M Mutation in a Patient with Cerebral Palsy-Like Phenotypes Reported from South India
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
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Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides [PDF]
, 2009 Defects in the biosynthesis of the oligosaccharide precursor for N-glycosylation lead to decreased occupancy of glycosylation sites and thereby to diseases known as congenital disorders of glycosylation (CDG).
Haeuptle, M A, Hennet, T
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Orphanet Journal of Rare Diseases, 2021 Background The congenital disorders of glycosylation (CDG) are a heterogeneous group of rare metabolic diseases with multi-system involvement. The liver phenotype of CDG varies not only according to the specific disorder, but also from patient to patient.
Rodrigo Tzovenos Starosta +9 more
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Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation. [PDF]
Mol Genet Genomic Med, 2013 Andreotti G +3 more
europepmc +2 more sources
Disruption of the GDP-mannose synthesis pathway in Streptomyces coelicolor results in antibiotic hyper-susceptible phenotypes [PDF]
, 2018 Actinomycete bacteria use polyprenol phosphate mannose as a lipid linked sugar donor for extra-cytoplasmic glycosyl transferases that transfer mannose to cell envelope polymers, including glycoproteins and glycolipids.
Green +5 more
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Identification of stable endogenous reference genes for real-time PCR in the human fetal gonad using an external standard technique [PDF]
, 2011 Peer ...
Ana Monteiro +13 more
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Anterior Ischemic Optic Neuropathy in a Child Receiving Chronic Hemodialysis
Case Reports in Nephrology, 2020 Anterior ischemic optic neuropathy (AION) occurs due to hypoperfusion of the optic nerve and is a rare complication in patients receiving maintenance dialysis.
Joyce Moore +6 more
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