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A fluid biomarker reveals loss of TDP-43 splicing repression in pre-symptomatic ALS

Loss of TAR DNA-binding protein 43 kDa (TDP-43) splicing repression is well-documented in postmortem tissues of amyotrophic lateral sclerosis (ALS), yet whether this abnormality occurs during early-stage disease remains unresolved. Cryptic exon inclusion reflects functional loss of TDP-43, and thus...

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Detalles Bibliográficos
Autores principales: Irwin, Katherine E., Jasin, Pei, Braunstein, Kerstin E., Sinha, Irika, Bowden, Kyra D., Moghekar, Abhay, Oh, Esther S., Raitcheva, Denitza, Bartlett, Dan, Berry, James D., Traynor, Bryan, Ling, Jonathan P., Wong, Philip C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9928052/
https://www.ncbi.nlm.nih.gov/pubmed/36789434
http://dx.doi.org/10.1101/2023.01.23.525202