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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
ProteomicsGlycoproteomics identify disease-associated N-glycans and reduced occupancy of glycosylation sites in PMM2-CDG
The routine diagnostic pathway for congenital disorders of glycosylation (CDG) relies on carbohydrate deficient transferrin, a test that incompletely captures defects in N linked glycosylation and may yield false negative results even in classical N glycosylation disorders such as PMM2 CDG. To explo...
ORGANISM(S): Homo sapiens (Human) 
2026-09-28 | PXD080194 | Pride
N‐linked glycosylation Carbohydrate metabolism Glycoproteomics Congenital disorders of glycosylation (cdg) Glycopeptide Glycomics Biomarker Inborn error of metabolism 
UnknownAcetazolamide treatment in late onset CDG type 1 due to biallelic pathogenic DHDDS variants.
Not available
S-EPMC9421445 | biostudies-literature
GenomicsHomo sapiens
Expression data from Congenital disorders of Glycosylation type-1 patients (CDG-I)
PRJNA101509 | ENA
UnknownSLC37A4-CDG: Second patient.
Not available
S-EPMC7932867 | biostudies-literature
UnknownA novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report.
Not available
S-EPMC2861021 | biostudies-literature
UnknownCongenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I.
Not available
S-EPMC1182267 | biostudies-literature
UnknownDiagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia.
Not available
S-EPMC4088274 | biostudies-literature
UnknownSiblings with MAN1B1-CDG Showing Novel Biochemical Profiles.
Not available
S-EPMC8618856 | biostudies-literature
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