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NUP62 localizes to ALS/FTLD pathological assemblies and contributes to TDP-43 insolubility

A G4C2 hexanucleotide repeat expansion in the C9orf72 gene is the most common genetic cause of ALS and FTLD (C9-ALS/FTLD) with cytoplasmic TDP-43 inclusions observed in regions of neurodegeneration. The accumulation of repetitive RNAs and dipeptide repeat protein (DPR) are two proposed mechanisms of...

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Detalles Bibliográficos
Autores principales: Gleixner, Amanda M., Verdone, Brandie Morris, Otte, Charlton G., Anderson, Eric N., Ramesh, Nandini, Shapiro, Olivia R., Gale, Jenna R., Mauna, Jocelyn C., Mann, Jacob R., Copley, Katie E., Daley, Elizabeth L., Ortega, Juan A., Cicardi, Maria Elena, Kiskinis, Evangelos, Kofler, Julia, Pandey, Udai B., Trotti, Davide, Donnelly, Christopher J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9192689/
https://www.ncbi.nlm.nih.gov/pubmed/35697676
http://dx.doi.org/10.1038/s41467-022-31098-6