Articles with "c9orf72 loss" as a keyword



Photo from wikipedia

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

Sign Up to like & get
recommendations!
Published in 2020 at "Acta Neuropathologica"

DOI: 10.1007/s00401-020-02214-x

Abstract: 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… read more here.

Keywords: function; als ftd; c9orf72 loss; loss function ... See more keywords