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C9orf72 loss-of-function: a trivial, stand-alone or additive mechanism in C9 ALS/FTD?

2 Sept 2020

Abstract excerpt

A repeat expansion in C9orf72 is responsible for the characteristic neurodegeneration in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in a still unresolved manner. Proposed mechanisms involve gain-of-functions, comprising RNA and protein toxicity, and loss-of-function of the C9orf72 gene. Their exact contribution is still inconclusive and reports regarding loss-of-function are rather...

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PMID: 32876811
DOI: 10.1007/s00401-020-02214-x

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