Cargando…
Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis
OBJECTIVE: Mutations in Fused in Sarcoma (FUS or TLS) are the fourth most prevalent in Western European familial amyotrophic lateral sclerosis (ALS) populations and have been associated with causing both early and very late disease onset. FUS aggregation, DNA repair deficiency, and genomic instabili...
Autores principales: | Naumann, Marcel, Peikert, Kevin, Günther, Rene, van der Kooi, Anneke J., Aronica, Eleonora, Hübers, Annemarie, Danel, Veronique, Corcia, Philippe, Pan‐Montojo, Francisco, Cirak, Sebahattin, Haliloglu, Göknur, Ludolph, Albert C., Goswami, Anand, Andersen, Peter M., Prudlo, Johannes, Wegner, Florian, Van Damme, Philip, Weishaupt, Jochen H., Hermann, Andreas |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6917314/ https://www.ncbi.nlm.nih.gov/pubmed/31682085 http://dx.doi.org/10.1002/acn3.50930 |
Ejemplares similares
-
Impaired DNA damage response signaling by FUS-NLS mutations leads to neurodegeneration and FUS aggregate formation
por: Naumann, Marcel, et al.
Publicado: (2018) -
FUS-mediated regulation of acetylcholine receptor transcription at neuromuscular junctions is compromised in amyotrophic lateral sclerosis
por: Picchiarelli, Gina, et al.
Publicado: (2019) -
Abl kinase-mediated FUS Tyr526 phosphorylation alters nucleocytoplasmic FUS localization in FTLD-FUS
por: Motaln, Helena, et al.
Publicado: (2023) -
FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees
por: Brenner, David, et al.
Publicado: (2021) -
Tauroursodeoxycholic acid in patients with amyotrophic lateral sclerosis: The TUDCA-ALS trial protocol
por: Albanese, Alberto, et al.
Publicado: (2022)