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Cytoplasmic poly-GA aggregates impair nuclear import of TDP-43 in C9orf72 ALS/FTLD

A repeat expansion in the non-coding region of C9orf72 gene is the most common mutation causing frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). Sense and antisense transcripts are translated into aggregating dipeptide repeat (DPR) proteins in all reading frames (pol...

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Detalles Bibliográficos
Autores principales: Khosravi, Bahram, Hartmann, Hannelore, May, Stephanie, Möhl, Christoph, Ederle, Helena, Michaelsen, Meike, Schludi, Martin H., Dormann, Dorothee, Edbauer, Dieter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5409121/
https://www.ncbi.nlm.nih.gov/pubmed/28040728
http://dx.doi.org/10.1093/hmg/ddw432