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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
ProteomicsDeciphering the Neurological Puzzle in ALG13-CDG Through Cutting-Edge Brain Organoid Modeling
Asparagine-linked glycosylation 13 (ALG13) is an X-linked congenital disorder of glycosylation (CDG) with limited treatment options and mechanistic understanding. Investigating ALG13-CDG has been challenging due to elusive glycosylation defects in patient samples, particularly in blood and fibroblas...
ORGANISM(S): Homo sapiens (Human) 
2026-02-02 | PXD051647 | Pride
Congenital disorder of glycosylation  metabolomics  single cell rna  proteomics Neurodevelopmental disorder Glycoproteomics Cortical brain organoids 
UnknownCDG Therapies: From Bench to Bedside.
Not available
S-EPMC5983582 | biostudies-literature
GenomicsRNA-Seq from PMM2-CDG patients and healthy controls
RNA-Seq from PMM2-CDG patients and healthy controls
PRJNA978326 | ENA
GenomicsRNA-Seq from PMM2-CDG patients and healthy controls
RNA-Seq from PMM2-CDG patients and healthy controls
PRJNA978325 | ENA
UnknownSystematic Review: Drug Repositioning for Congenital Disorders of Glycosylation (CDG).
Not available
S-EPMC9369176 | biostudies-literature
UnknownCongenital disorders of glycosylation (CDG): state of the art in 2022.
Not available
S-EPMC10585812 | biostudies-literature
ProteomicsMitochondrial dysfunction is a driver of cardiac complications in PGM1-CDG with implications for therapy
Phosphoglucomutase 1 (PGM1) enzyme plays a central role in metabolism, by bridging glycolysis, glycogen metabolism and glycosylation. PGM1 deficiency is a rare congenital disorder of glycosylation (CDG) known for its unusually high incidence of lethal cardiac complications. While the role of PGM1 in...
ORGANISM(S): Homo sapiens (Human) 
2026-02-09 | PXD057756 | Pride
Human Glycosylation Multiomics Cardiomyocytes Cdg Lc-ms/ms 
UnknownPatient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals.
Not available
S-EPMC9618201 | biostudies-literature
UnknownNew Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach.
Not available
S-EPMC7408855 | biostudies-literature
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