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Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers

8 Oct 2019

Abstract excerpt

The majority of the clinico-pathological variability observed in patients harboring a repeat expansion in the C9orf72-SMCR8 complex subunit (C9orf72) remains unexplained. This expansion, which represents the most common genetic cause of frontotemporal lobar degeneration (FTLD) and motor neuron disease (MND), results in a loss of C9orf72 expression and the generation of RNA foci and dipeptide repeat (DPR)...

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PMID: 31594549
DOI: 10.1186/s40478-019-0797-0

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