Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers

Abstract The majority of the clinico-pathological variability observed in patients harboring a repeat expansion in the C9orf72-SMCR8 complex subunit (C9orf72) remains unexplained. This expansion, which represents the most common genetic cause of frontotemporal lobar degeneration (FTLD) and motor neu...

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Main Authors: Dennis W. Dickson, Matthew C. Baker, Jazmyne L. Jackson, Mariely DeJesus-Hernandez, NiCole A. Finch, Shulan Tian, Michael G. Heckman, Cyril Pottier, Tania F. Gendron, Melissa E. Murray, Yingxue Ren, Joseph S. Reddy, Neill R. Graff-Radford, Bradley F. Boeve, Ronald C. Petersen, David S. Knopman, Keith A. Josephs, Leonard Petrucelli, Björn Oskarsson, John W. Sheppard, Yan W. Asmann, Rosa Rademakers, Marka van Blitterswijk
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2019-10-01
Colecção:Acta Neuropathologica Communications
Assuntos:
Frontotemporal dementia
Frontotemporal lobar degeneration
Amyotrophic lateral sclerosis
Motor neuron disease
C9orf72
Transcriptomics
Acesso em linha:http://link.springer.com/article/10.1186/s40478-019-0797-0
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