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ProteomicsTargeted Proteomics Reveals Quantitative Differences in Low Abundance Glycosyltransferases of Patients with Congenital Disorders of Glycosylation
Protein glycosylation is an essential posttranslational modification in all domains of life. Its impairment in human can result in severe diseases named Congenital Disorders of Glycosylation (CDGs). Most of the glycosyltransferases (GTs) responsible for proper glycosylation are polytopic membrane p...
ORGANISM(S): Homo Sapiens 
2024-01-30 | PXD048072 | panorama
ProteomicsLiposome-encapsulated mannose-1-phosphate therapy improves global N-glycosylation in different congenital disorders of glycosylation
Phosphomannomutase 2 (PMM2) converts mannose-6-phospahate to mannose-1-phosphate; the substrate for GDP-mannose, a building block of the glycosylation biosynthetic pathway. Pathogenic variants in the PMM2 gene have been shown to be associated with protein hypoglycosylation causing PMM2-congenital di...
ORGANISM(S): Homo sapiens (Human) 
2024-11-13 | PXD050018 | Pride
Glycosylation Glycoproteomics Glm101 Congenital disorders of glycosylation Therapy Pmm2-cdg 
GenomicsIdentification of genes involved in congenital disorders of glycosylation and 3 methylglutaconic aciduria
Identification of genes involved in congenital disorders of glycosylation and 3-methylglutaconic aciduria. There are more than 100 genes known for congenital disorders of glycosylation and new disorders are discovered each year. WE included patients with a so far unsolved glycosylation disease. The...
EGAS00001002064 | EGA
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
ProteomicsCSF glycoproteomics reveals brain-specific changes in glyco-sylation in congenital disorders of glycosylation
In this project, CSF samples from healthy volunteers and patients diagnosed with congenital disorders of glycosylation (CDG) were analyzed with MS-based glycoproteomics to characterize the glycoproteome in the two cohorts. In order to identify highly truncated glycopeptides and glycopeptides that sh...
ORGANISM(S): Homo sapiens (Human) 
2023-01-18 | PXD038787 | Pride
Glycoproteomics Brain-type glycosylation Csf 
ProteomicsFunctional Classification of DDOST Variants of Uncertain Clinical Significance in Congenital Disorders of Glycosylation
identification of OST48 as a transient inetactor of lysyl oxidase (LOX)OST48 is a non catalytic component of the OST complex which transfers glycans to substrate proteins. OST48 is encoded by DDOST.43 cariants of DDOST are described in CDG patients
ORGANISM(S): Homo sapiens (Human) 
2023-10-18 | PXD042959 | Pride
Congeniatal disorders of glycosylation Lysl oxidase Functional assay Apex2 proximity labelling 
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 
UnknownCongenital disorders of glycosylation.
Not available
S-EPMC6331365 | biostudies-literature
ProteomicsN-glycoproteomics and proteomics in NGLY1 deficient patient-derived dermal fibroblasts
In the biological systems, several genes are involved in protein glycosylation and deglycosylation pathways. Congenital disorders of deglycosylation (CDDG) are a set of disorders which occur due to the defect in genes involved in deglycosylation pathways. The only known CDDG so far is the defect in ...
ORGANISM(S): Homo sapiens (Human) 
2023-05-10 | PXD034364 | Pride
Proteomics Fibroblasts Human Glycoproteomics Mass spectrometry Ngly1 Congenital disorder of glycosylation Congenital disorder of deglycosylation 
ProteomicsProteome and glycoproteome analysis of fibroblasts from patients with congenital disorders of glycosylation
In the biological systems, several genes are involved in protein glycosylation pathway. Congenital Disorders of Glycosylation (CDG) is known to be a multisystem disorder. Pathogenic variants in the glycosylation genes lead to abnormal N- or O-linked glycosylation that causes cellular stress. We used...
ORGANISM(S): Homo sapiens (Human) 
2023-10-24 | PXD044327 | Pride
Glycosylation Proteomics Glycoproteomics Cdg Fibroblasts 
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