Transcription profiling of human congenital disorders of Glycosylation type-1 patients (CDG-I)

ABSTRACT: 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 the fibrotic stage associated to CDG type-I. We used microarrays to characterize the global changes in gene expression in three distinct groups of CDG-I patients and we identified a common perturbation in the expression of genes encoding for proteins involved in the stress as well as in the fibrotic responses. Experiment Overall Design: Primary fibroblasts, obtained from forearm skin biopsies of healthy control subjects and three distinct groups of CDG-I patients, were cultured in F12 DMEM sup

ORGANISM(S): Homo sapiens

SUBMITTER: Thierry Hennet 

PROVIDER: E-GEOD-8440 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress