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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
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 
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 
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 
ProteomicsA pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis
Dolichol is a lipid critical for N-glycosylation as a carrier for activated sugars and nascent oligosaccharides. It is commonly thought to be directly produced from polyprenol by the enzyme SRD5A3. Instead, we found that dolichol synthesis requires a three-step detour involving additional metabolite...
ORGANISM(S): Homo sapiens (Human) 
2024-06-12 | PXD049174 | Pride
Lipid droplets Congenital disorders of glycosylation Polyprenal N-glycosylation Dolichal Pseudoautosomal region Dolichol Polyprenol 
GenomicsO-GlcNAcylation Modulates Expression and Abundance of N-Glycosylation Machinery in an Inherited Glycosylation Disorder
O-GlcNAcylation Modulates Expression and Abundance of N-Glycosylation Machinery in an Inherited Glycosylation Disorder
PRJNA1120060 | ENA
GenomicsGene expression profile of PMM2_CDG (Congenital Disorder of Glycosylation) B lymphoblastoid cell lines (B-LCL)
Gene expression profile of PMM2_CDG (Congenital Disorder of Glycosylation) B lymphoblastoid cell lines (B-LCL)
PRJNA605976 | ENA
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