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ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import

Mutations in fused in sarcoma (FUS) are a cause of familial amyotrophic lateral sclerosis (fALS). Patients carrying point mutations in the C-terminus of FUS show neuronal cytoplasmic FUS-positive inclusions, whereas in healthy controls, FUS is predominantly nuclear. Cytoplasmic FUS inclusions have a...

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Autores principales: Dormann, Dorothee, Rodde, Ramona, Edbauer, Dieter, Bentmann, Eva, Fischer, Ingeborg, Hruscha, Alexander, Than, Manuel E, Mackenzie, Ian R A, Capell, Anja, Schmid, Bettina, Neumann, Manuela, Haass, Christian
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2010
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2924641/
https://ncbi.nlm.nih.gov/pubmed/20606625
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/emboj.2010.143
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