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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 
UnknownNGLY1 deficiency-A rare congenital disorder of deglycosylation.
Not available
S-EPMC7203651 | biostudies-literature
UnknownComprehensive Analysis of the Structure and Function of Peptide:N-Glycanase 1 and Relationship with Congenital Disorder of Deglycosylation.
Not available
S-EPMC9102325 | biostudies-literature
UnknownAn induced pluripotent stem cell-derived NMJ platform for study of the NGLY1-Congenital Disorder of Deglycosylation.
Not available
S-EPMC9798846 | biostudies-literature
UnknownA congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts.
Not available
S-EPMC4487302 | biostudies-literature
UnknownProspective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.
Not available
S-EPMC7477955 | biostudies-literature
UnknownNGLY1 Deficiency, a Congenital Disorder of Deglycosylation: From Disease Gene Function to Pathophysiology.
Not available
S-EPMC8997433 | biostudies-literature
TranscriptomicsH. pylori G27 HP0518 mutant showed greater motility
Helicobacter pylori is a human gastric pathogen associated with gastric and duodenal ulcers as well as specific gastric cancers. It is well-evidenced that motility is essential for this pathogen to colonize human gastric tissues. We found that the H. pylori G27 HP0518 mutant showed greater motility ...
ORGANISM(S): Helicobacter pylori 
2010-12-22 | E-GEOD-14752 | biostudies-arrayexpress
UnknownImpaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.
Not available
S-EPMC8874227 | biostudies-literature
GenomicsExpression signatures of NGLY1 deficiency
N-Glycanase 1 (NGLY1) deficiency is a rare and complex genetic disorder. Although recent studies have shed light on the molecular underpinnings of NGLY1 deficiency, a systematic characterization of gene and protein expression changes in patient-derived cells has been lacking. Here, we performed RNA-...
EGAS00001005573 | EGA
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