Bidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degeneration

Abstract An intronic GGGGCC expansion in C9orf72 is the most common known cause of both frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). The repeat expansion leads to the generation of sense and antisense repeat RNA aggregates and dipeptide repeat (DPR) proteins, gen...

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Autores principales: Sarah Mizielinska, Charlotte E. Ridler, Rubika Balendra, Annora Thoeng, Nathan S. Woodling, Friedrich A. Grässer, Vincent Plagnol, Tammaryn Lashley, Linda Partridge, Adrian M. Isaacs
Formato: Artigo
Lenguaje:Inglês
Publicado: BMC 2017-04-01
Colección:Acta Neuropathologica Communications
Materias:
C9orf72
FTLD
Nucleolar stress
Dipeptide repeat proteins
Poly(GR)
RNA foci
Acceso en línea:http://link.springer.com/article/10.1186/s40478-017-0432-x
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