Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers

Abstract Hexanucleotide repeat expansion in C9orf72 is the most common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis, but the pathogenic mechanism of this mutation remains unresolved. Haploinsufficiency has been proposed as one potential mechanism. However, insights if a...

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Detalhes bibliográficos

Principais autores:	Petra Frick, Chantal Sellier, Ian R. A. Mackenzie, Chieh-Yu Cheng, Julie Tahraoui-Bories, Cecile Martinat, R. Jeroen Pasterkamp, Johannes Prudlo, Dieter Edbauer, Mustapha Oulad-Abdelghani, Regina Feederle, Nicolas Charlet-Berguerand, Manuela Neumann
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2018-08-01
coleção:	Acta Neuropathologica Communications
Assuntos:	Frontotemporal dementia Frontotemporal lobar degeneration Amyotrophic lateral sclerosis C9orf72 RAB3 Synaptic vesicles
Acesso em linha:	http://link.springer.com/article/10.1186/s40478-018-0579-0
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