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

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). <i>SOD1&l...

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Main Authors: Elisa Perciballi, Federica Bovio, Jessica Rosati, Federica Arrigoni, Angela D’Anzi, Serena Lattante, Maurizio Gelati, Fabiola De Marchi, Ivan Lombardi, Giorgia Ruotolo, Matilde Forcella, Letizia Mazzini, Sandra D’Alfonso, Lucia Corrado, Mario Sabatelli, Amelia Conte, Luca De Gioia, Sabata Martino, Angelo Luigi Vescovi, Paola Fusi, Daniela Ferrari
Format: Article
Language:English
Published: MDPI AG 2022-04-01
Series:Antioxidants
Subjects:
amyotrophic lateral sclerosis
ALS
p.L144F
p.S134N
SOD1 mutations
seahorse
Online Access:https://www.mdpi.com/2076-3921/11/5/815

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