Impaired NHEJ repair in amyotrophic lateral sclerosis is associated with TDP-43 mutations

BACKGROUND: Pathological forms of TAR DNA-binding protein 43 (TDP-43) are present in motor neurons of almost all amyotrophic lateral sclerosis (ALS) patients, and mutations in TDP-43 are also present in ALS. Loss and gain of TDP-43 functions are implicated in pathogenesis, but the mechanisms are unc...

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Detalles Bibliográficos
Autores principales: Konopka, Anna, Whelan, Donna R., Jamali, Md Shafi, Perri, Emma, Shahheydari, Hamideh, Toth, Reka P., Parakh, Sonam, Robinson, Tina, Cheong, Alison, Mehta, Prachi, Vidal, Marta, Ragagnin, Audrey M. G., Khizhnyak, Ivan, Jagaraj, Cyril J., Galper, Jasmin, Grima, Natalie, Deva, Anand, Shadfar, Sina, Nicholson, Garth A., Yang, Shu, Cutts, Suzanne M., Horejsi, Zuzana, Bell, Toby D. M., Walker, Adam K., Blair, Ian P., Atkin, Julie D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7488163/
https://www.ncbi.nlm.nih.gov/pubmed/32907630
http://dx.doi.org/10.1186/s13024-020-00386-4

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