C9ORF72 knockdown triggers FTD-like symptoms and cell pathology in mice

The GGGGCC intronic repeat expansion within C9ORF72 is the most common genetic cause of ALS and FTD. This mutation results in toxic gain of function through accumulation of expanded RNA foci and aggregation of abnormally translated dipeptide repeat proteins, as well as loss of function due to impair...

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Detalles Bibliográficos
Autores principales: Lopez-Herdoiza, Maria-Belen, Bauché, Stephanie, Wilmet, Baptiste, Le Duigou, Caroline, Roussel, Delphine, Frah, Magali, Béal, Jonas, Devely, Gabin, Boluda, Susana, Frick, Petra, Bouteiller, Delphine, Dussaud, Sébastien, Guillabert, Pierre, Dalle, Carine, Dumont, Magali, Camuzat, Agnes, Saracino, Dario, Barbier, Mathieu, Bruneteau, Gaelle, Ravassard, Phillippe, Neumann, Manuela, Nicole, Sophie, Le Ber, Isabelle, Brice, Alexis, Latouche, Morwena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10149765/
https://www.ncbi.nlm.nih.gov/pubmed/37138765
http://dx.doi.org/10.3389/fncel.2023.1155929

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