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Topic: Ataxia-telangiectasia

ePoster
1 ePoster

In Neuroscience

NETSseq enhances the understanding of cerebellar transcriptomic changes in ataxia-telangiectasia

Jenna Harvey, Giuliano Stirparo, Russell Burley, Xioa Xu, Jason Lawrence, David Cadwalladr, Toni Thompson, Daniel Barker, Victoria Mulligan, Keith Page, Louise Dickson, Steve Sheardown, Lee Dawson, Mark Carlton, Justin Powell, Nicola Brice · FENS Forum 2024

Ataxia-telangiectasia (A-T) is a devastating and rare autosomal recessive neurodegenerative disease. It is characterised by progressive neurological pathology, among other symptoms, and caused by mutations in the ataxia-telangiectasia mutated (ATM) gene. The molecular mechanisms underlying the disease are poorly understood, partly due to a lack of appropriate animal and cellular models. Here, we use human tissue and Cerevance’s proprietary Nuclear Enriched Transcript Sort sequencing (NETSseq) platform to produce deep RNA-sequencing expression profiles (>12000 genes) of purified CNS cell typ

ePoster · Neuroscience