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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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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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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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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Whole-genome sequence analysis of Bombella intestini LMG 28161T, a novel acetic acid bacterium isolated from the crop of a red-tailed bumble bee, Bombus lapidarius [PDF]
, 2016 The whole-genome sequence of Bombella intestini LMG 28161(T), an endosymbiotic acetic acid bacterium (AAB) occurring in bumble bees, was determined to investigate the molecular mechanisms underlying its metabolic capabilities.
Borremans, Wim +7 more
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Trypanosoma cruzi phosphomannomutase and guanosine diphosphate-mannose pyrophosphorylase ligandability assessment [PDF]
, 2019 Chagas’ disease, which is caused by the Trypanosoma cruzi parasite, has become a global health problem that is currently treated with poorly tolerated drugs that require prolonged dosing.
De Rycker, Manu +5 more
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The first peptides: the evolutionary transition between prebiotic amino acids and early proteins [PDF]
, 2009 The issues we attempt to tackle here are what the first peptides did look like when they emerged on the primitive earth, and what simple catalytic activities they fulfilled.
Buhrman, Harry +4 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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Macular hypoplasia in congenital disorder of glycosylation type 1a [PDF]
, 2012 Congenital disorders of glycosylation are a rare group of metabolic disorders that can result in multiorgan disease. This article describes a novel finding of macular hypoplasia in congenital disorders of glycosylation type ...
Siriwardana, Pradeep +2 more
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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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