Functional Characterization of a Familial ALS-Associated Missense TBK1 (p-Arg573Gly) Mutation in Patient-Derived Lymphoblasts

The goal of this work was to elucidate the pathogenic mechanism of an ALS-associated missense mutation, p.Arg573Gly (R573G), in the TBK1 gene. In particular, we seek to analyze the influence of this variant on the cellular levels and the function of TBK1 in immortalized cells from an ALS patient. Th...

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Detalles Bibliográficos
Autores principales: Porras, Gracia, Ruiz, Silvana, Maestro, Inés, Borrego-Hernández, Daniel, Redondo, Alberto G., Martínez, Ana, Martín-Requero, Ángeles
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9917786/
https://www.ncbi.nlm.nih.gov/pubmed/36769169
http://dx.doi.org/10.3390/ijms24032847

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9917786/
https://www.ncbi.nlm.nih.gov/pubmed/36769169
http://dx.doi.org/10.3390/ijms24032847

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