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

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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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: BMC 2018-08-01
Series:Acta Neuropathologica Communications
Subjects:
Frontotemporal dementia
Frontotemporal lobar degeneration
Amyotrophic lateral sclerosis
C9orf72
RAB3
Synaptic vesicles
Online Access:http://link.springer.com/article/10.1186/s40478-018-0579-0

Internet

http://link.springer.com/article/10.1186/s40478-018-0579-0

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