Transcriptomics

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Progressive neuroinflammation and deficits in motor function in a mouse model with an Epg5 pathogenic variant of Vici syndrome


ABSTRACT: Transcriptomic profiling was performed on CNS tissues of 7 month old sibling control or homozygous mutant mice carrying a genetically engineered truncating W860X mutation recapitulating a pathogenic variant of Vici Syndrome. Analysis revealed robust neuroinflammatory signatures, implicating the activation of both microglia and astrocytes. Notably, the molecular profiles of Epg5-deficient mice share features with disease-associated microglia observed in other models of neurological disease and injury.

ORGANISM(S): Mus musculus

PROVIDER: GSE307849 | GEO | 2025/09/11

REPOSITORIES: GEO

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