Transcriptomic signatures in Gaucher disease subtypes: A systems biology perspective.

ABSTRACT: Gaucher disease (GD) is a lysosomal storage disorder caused by the failure of GBA1 (Glucosylceramidase Beta 1). The aim of study was to analyze and enrich signaling pathways with transcriptomic profiles in cultured skin fibroblasts of GD subtypes (GD1, GD2, GD3) using GEO datasets. Differentially expressed genes (DEGs) were identified using the Limma package in R with a significance threshold (adjusted p-value <0.05 and |log2FC| > 1) and were used in gene networks constructed by Cytoscape. In GD1, up regulated genes (TP53, COL4A1) were found in mRNA splicing and ECM organization, while down regulated genes (IL6, TGFBR2) were linked to cytokine and TGF-β signaling pathways. GD2 showed upregulation of MMP1, CXCL8, and interferon-related

SUBMITTER: Elahimanesh M 

PROVIDER: S-EPMC12663027 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature