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RNA-seq analysis for wild-type fibroblasts and patient fibroblasts bearing pathogenic EPG5 mutations

GSE316460 Homo sapiens Expression profiling by high throughput sequencing 9 samples Submitted 2026/03/11 Platform GPL30173
Summary
The aim of this study was to compare RNA-seq profiles of wild-type fibroblasts and patient-derived fibroblasts carrying pathogenic EPG5 mutations. Using an adjusted p-value threshold of < 0.05, we identified 5,303 differentially expressed transcripts in patient fibroblasts harboring a homozygous p.Gln336Arg missense mutation, of which 2,651 were upregulated and 2,652 were downregulated. In patient fibroblasts carrying compound heterozygous truncating mutations (p.Arg299*/p.Pro1827Ala), we identified 6,317 differentially expressed transcripts, including 3,239 upregulated and 3,078 downregulated transcripts, compared with control 1 fibroblasts.
Published in
Pathogenic variants in the autophagy-tethering factor EPG5 drive neurodegeneration through mitochondrial dysfunction and innate immune activation
Singh K, Dafsari HS, Gillham O et al. · Nature communications 2026 · PMID 42191733 · doi:10.1038/s41467-026-73538-7
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Also filed as BioProject PRJNA1402953 and SRA study SRP662175. Searching any of these in the dataset finder brings you back here.

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