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A Nonsense Mutation in Mouse Tardbp Affects TDP43 Alternative Splicing Activity and Causes Limb-Clasping and Body Tone Defects

Mutations in TARDBP, encoding Tar DNA binding protein-43 (TDP43), cause amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Attempts to model TDP43 dysfunction in mice have used knockouts or transgenic overexpressors, which have revealed the difficulties of manipulating TDP43, who...

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Detalles Bibliográficos
Autores principales: Ricketts, Thomas, McGoldrick, Philip, Fratta, Pietro, de Oliveira, Hugo M., Kent, Rosie, Phatak, Vinaya, Brandner, Sebastian, Blanco, Gonzalo, Greensmith, Linda, Acevedo-Arozena, Abraham, Fisher, Elizabeth M. C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897576/
https://www.ncbi.nlm.nih.gov/pubmed/24465814
http://dx.doi.org/10.1371/journal.pone.0085962