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TranscriptomicsTranscription profiling of human congenital disorders of Glycosylation type-1 patients (CDG-I)
Disruption of N-linked glycosylation has a broad impact on proper glycosylation of nascent glycoproteins in the endoplasmic reticulum, which affect multiple signalling pathways( by changing the stability of membrane proteins or the signalling ability of membrane receptors) and may be responsible of ...
ORGANISM(S): Homo sapiens 
2008-10-18 | E-GEOD-8440 | biostudies-arrayexpress
TranscriptomicsExpression data from Congenital disorders of Glycosylation type-1 patients (CDG-I)
Disruption of N-linked glycosylation has a broad impact on proper glycosylation of nascent glycoproteins in the endoplasmic reticulum, which affect multiple signalling pathways( by changing the stability of membrane proteins or the signalling ability of membrane receptors) and may be responsible of ...
ORGANISM(S): Homo sapiens 
2008-07-11 | GSE8440 | GEO
GenomicsHomo sapiens
Expression data from Congenital disorders of Glycosylation type-1 patients (CDG-I)
PRJNA101509 | ENA
UnknownCongenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I.
Not available
S-EPMC1182267 | biostudies-literature
UnknownA case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity.
Not available
S-EPMC4919849 | biostudies-literature
UnknownVariation of the serum N-glycosylation during the pregnancy of a MPI-CDG patient.
Not available
S-EPMC8574185 | biostudies-literature
UnknownSiblings with MAN1B1-CDG Showing Novel Biochemical Profiles.
Not available
S-EPMC8618856 | biostudies-literature
UnknownDrosophila models of PIGA-CDG mirror patient phenotypes.
Not available
S-EPMC10634882 | biostudies-literature
ProteomicsA complement C4-derived glycopeptide as a novel biomarker for PMM2-CDG
The most common congenital disorder of glycosylation (CDG) is caused by pathogenic variants in PMM2 (PMM2-CDG) that reduce phosphomannomutase activity and impair N-glycan synthesis. Patients present early in life with multi-system disabilities. Traditional diagnosis relies on measuring carbohydrate-...
ORGANISM(S): Homo sapiens (Human) 
2024-03-12 | PXD042446 | Pride
Phosphomannomutase Diagnostic marker Carbohydrate-deficient transferrin Glycosylation 
UnknownSerum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG.
Not available
S-EPMC4822552 | biostudies-literature
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