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Altered pathways in Cockayne syndrome: Involvement of MAPK, PI3K-Akt, extracellular matrix, inflammation, and neuronal signaling

ABSTRACT: Cockayne syndrome (CS), a disorder characterized by neurodegeneration and a segmental progeroid phenotype, is caused by mutations in CSA or CSB genes, which codify proteins necessary for the DNA repair pathway known as transcription-coupled nucleotide excision repair (TC-NER). To further elucidate the biological pathways associated with this aging-related neurodegenerative phenotype, we analyzed CS transcriptome datasets. We performed RNA-seq on the brains of one Csa-/- mouse model and a respecitive wild-type mouse (C57-Black6J background) in three different age timepoints (45 days, 12 months, 24 months). RNA-seq was performed in 5 lanes using AB SOLiD system.

ORGANISM(S): Mus musculus

PROVIDER: GSE288213 | GEO | 2025/08/28

REPOSITORIES: GEO

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DNA methylation of fibroblasts from Cockayne syndrome and UV-sensitivity syndrome patients [450k]

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