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Characterization of the p.L145F and p.S135N Mutations in SOD1: Impact on the Metabolism of Fibroblasts Derived from Amyotrophic Lateral Sclerosis Patients

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by the loss of the upper and lower motor neurons (MNs). About 10% of patients have a family history (familial, fALS); however, most patients seem to develop the sporadic form of the disease (sALS). SOD1 (Cu/Zn sup...

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Detalles Bibliográficos
Autores principales: Perciballi, Elisa, Bovio, Federica, Rosati, Jessica, Arrigoni, Federica, D’Anzi, Angela, Lattante, Serena, Gelati, Maurizio, De Marchi, Fabiola, Lombardi, Ivan, Ruotolo, Giorgia, Forcella, Matilde, Mazzini, Letizia, D’Alfonso, Sandra, Corrado, Lucia, Sabatelli, Mario, Conte, Amelia, De Gioia, Luca, Martino, Sabata, Vescovi, Angelo Luigi, Fusi, Paola, Ferrari, Daniela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9137766/
https://www.ncbi.nlm.nih.gov/pubmed/35624679
http://dx.doi.org/10.3390/antiox11050815