Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis

Amyotrophic lateral sclerosis (ALS) is a severe neurodegenerative disorder without effective neuroprotective therapy. Known genetic variants impair pathways, including RNA processing, axonal transport, and protein homeostasis. We report ALS-causing mutations within the gene encoding the glycosyltran...

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Detalles Bibliográficos
Autores principales: Cooper-Knock, Johnathan, Moll, Tobias, Ramesh, Tennore, Castelli, Lydia, Beer, Alexander, Robins, Henry, Fox, Ian, Niedermoser, Isabell, Van Damme, Philip, Moisse, Matthieu, Robberecht, Wim, Hardiman, Orla, Panades, Monica P., Assialioui, Abdelilah, Mora, Jesus S., Basak, A. Nazli, Morrison, Karen E., Shaw, Christopher E., Al-Chalabi, Ammar, Landers, John E., Wyles, Matthew, Heath, Paul R., Higginbottom, Adrian, Walsh, Theresa, Kazoka, Mbombe, McDermott, Christopher J., Hautbergue, Guillaume M., Kirby, Janine, Shaw, Pamela J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cell Press 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7003067/
https://www.ncbi.nlm.nih.gov/pubmed/30811981
http://dx.doi.org/10.1016/j.celrep.2019.02.006

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7003067/
https://www.ncbi.nlm.nih.gov/pubmed/30811981
http://dx.doi.org/10.1016/j.celrep.2019.02.006

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