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Premature termination codons in SOD1 causing Amyotrophic Lateral Sclerosis are predicted to escape the nonsense-mediated mRNA decay

Amyotrophic lateral sclerosis (ALS) is the most common and severe adult-onset motoneuron disease and has currently no effective therapy. Approximately 20% of familial ALS cases are caused by dominantly-inherited mutations in the gene encoding Cu/Zn superoxide dismutase (SOD1), which represents one o...

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Detalles Bibliográficos
Autores principales: Guissart, Claire, Mouzat, Kevin, Kantar, Jovana, Louveau, Baptiste, Vilquin, Paul, Polge, Anne, Raoul, Cédric, Lumbroso, Serge
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7691510/
https://www.ncbi.nlm.nih.gov/pubmed/33244158
http://dx.doi.org/10.1038/s41598-020-77716-5