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