Mutation in the FUS nuclear localisation signal domain causes neurodevelopmental and systemic metabolic alterations

Variants in the ubiquitously expressed DNA/RNA-binding protein FUS cause aggressive juvenile forms of amyotrophic lateral sclerosis (ALS). Most FUS mutation studies have focused on motor neuron degeneration; little is known about wider systemic or developmental effects. We studied pleiotropic phenot...

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Detalles Bibliográficos
Autores principales: Ali, Zeinab, Godoy-Corchuelo, Juan M., Martins-Bach, Aurea B., Garcia-Toledo, Irene, Fernández-Beltrán, Luis C., Nair, Remya R., Spring, Shoshana, Nieman, Brian J., Jimenez-Coca, Irene, Bains, Rasneer S., Forrest, Hamish, Lerch, Jason P., Miller, Karla L., Fisher, Elizabeth M. C., Cunningham, Thomas J., Corrochano, Silvia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10642611/
https://www.ncbi.nlm.nih.gov/pubmed/37772684
http://dx.doi.org/10.1242/dmm.050200

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