Predicting disease-overarching therapeutic approaches for Congenital Disorders of Glycosylation using multi-OMICS.

ABSTRACT:

Background

Congenital Disorders of Glycosylation (CDG) are a rapidly expanding group of inherited metabolic diseases caused by defects in glycosylation. Although over 190 genetic defects have been identified, effective treatments remain available for only a few. We hypothesized that integrative analysis of multi-omics datasets from individuals with various CDG could uncover common molecular signatures and highlight shared therapeutic targets.

Methods

We compiled all publicly available RNA sequencing, proteomics and glycoproteomics datasets from patients with PMM2-CDG, ALG1-CDG, SRD5A3-CDG, NGLY1-CDDG, ALG13-CDG and PGM1-CDG, spanning different tissues, including induced cardiomyocytes, human cortical organoids, fibroblasts, and lymphoblasts. Differential expression and glyco

SUBMITTER: Muffels IJJ 

PROVIDER: S-EPMC12265611 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature