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A feedback loop between dipeptide-repeat protein, TDP-43 and karyopherin-α mediates C9orf72-related neurodegeneration

Accumulation and aggregation of TDP-43 is a major pathological hallmark of amyotrophic lateral sclerosis and frontotemporal dementia. TDP-43 inclusions also characterize patients with GGGGCC (G4C2) hexanucleotide repeat expansion in C9orf72 that causes the most common genetic form of amyotrophic lat...

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Detalles Bibliográficos
Autores principales: Solomon, Daniel A, Stepto, Alan, Au, Wing Hei, Adachi, Yoshitsugu, Diaper, Danielle C, Hall, Rachel, Rekhi, Anjeet, Boudi, Adel, Tziortzouda, Paraskevi, Lee, Youn-Bok, Smith, Bradley, Bridi, Jessika C, Spinelli, Greta, Dearlove, Jonah, Humphrey, Dickon M, Gallo, Jean-Marc, Troakes, Claire, Fanto, Manolis, Soller, Matthias, Rogelj, Boris, Parsons, Richard B, Shaw, Christopher E, Hortobágyi, Tibor, Hirth, Frank
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6158706/
https://www.ncbi.nlm.nih.gov/pubmed/30239641
http://dx.doi.org/10.1093/brain/awy241