Article
Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers.
Acta neuropathologica communications - 3 Aug 2018
Frick Petra, Sellier Chantal, Mackenzie Ian R A, Cheng Chieh-Yu, Tahraoui-Bories Julie, Martinat Cecile, Pasterkamp R Jeroen, Prudlo Johannes, Edbauer Dieter, Oulad-Abdelghani Mustapha, Feederle Regina, Charlet-Berguerand Nicolas, Neumann Manuela
Abstract excerpt
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 and how reduced C9orf72 proteins levels might contribute to disease pathogenesis are still limited because C9orf72 expression,...
Topics
- Aged
- Aged, 80 and over
- Amyotrophic Lateral Sclerosis
- Animals
- Antibodies, Monoclonal
- Brain
- C9orf72 Protein
- Cells, Cultured
- DNA-Binding Proteins