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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Publicado no:Hum Mol Genet
Main Authors: Khosravi, Bahram, Hartmann, Hannelore, May, Stephanie, Möhl, Christoph, Ederle, Helena, Michaelsen, Meike, Schludi, Martin H., Dormann, Dorothee, Edbauer, Dieter
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2017
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5409121/
https://ncbi.nlm.nih.gov/pubmed/28040728
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw432
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