C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD

Neuronal TDP-43-positive inclusions are neuropathological hallmark lesions in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Pathogenic missense variants in TARDBP, the gene encoding TDP-43, can cause ALS and cluster in the C-terminal prion-like domain (PrLD), where they modu...

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Detalles Bibliográficos
Autores principales: Ervilha Pereira, Pedro, Schuermans, Nika, Meylemans, Antoon, LeBlanc, Pontus, Versluys, Lauren, Copley, Katie E., Rubien, Jack D., Altheimer, Christopher, Peetermans, Myra, Debackere, Elke, Vanakker, Olivier, Janssens, Sandra, Baets, Jonathan, Verhoeven, Kristof, Lammens, Martin, Symoens, Sofie, De Paepe, Boel, Barmada, Sami J., Shorter, James, De Bleecker, Jan L., Bogaert, Elke, Dermaut, Bart
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10175433/
https://www.ncbi.nlm.nih.gov/pubmed/37000196
http://dx.doi.org/10.1007/s00401-023-02565-1

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