Pathomechanisms of ALS8: altered autophagy and defective RNA binding protein (RBP) homeostasis due to the VAPB P56S mutation

Mutations in RNA binding proteins (RBPs) and in genes regulating autophagy are frequent causes of familial amyotrophic lateral sclerosis (fALS). The P56S mutation in vesicle-associated membrane protein-associated protein B (VAPB) leads to fALS (ALS8) and spinal muscular atrophy (SMA). While VAPB is...

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Detalles Bibliográficos
Autores principales: Tripathi, Priyanka, Guo, Haihong, Dreser, Alice, Yamoah, Alfred, Sechi, Antonio, Jesse, Christopher Marvin, Katona, Istvan, Doukas, Panagiotis, Nikolin, Stefan, Ernst, Sabrina, Aronica, Eleonora, Glaß, Hannes, Hermann, Andreas, Steinbusch, Harry, Feller, Alfred C., Bergmann, Markus, Jaarsma, Dick, Weis, Joachim, Goswami, Anand
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8110809/
https://www.ncbi.nlm.nih.gov/pubmed/33972508
http://dx.doi.org/10.1038/s41419-021-03710-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8110809/
https://www.ncbi.nlm.nih.gov/pubmed/33972508
http://dx.doi.org/10.1038/s41419-021-03710-y

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