Characterization of the p.L145F and p.S135N Mutations in SOD1: Impact on the Metabolism of Fibroblasts Derived from Amyotrophic Lateral Sclerosis Patients.
ALS
SOD1 mutations
amyotrophic lateral sclerosis
energetic metabolism
mitochondria
p.L144F
p.L145F
p.S134N
p.S135N
seahorse
Journal
Antioxidants (Basel, Switzerland)
ISSN: 2076-3921
Titre abrégé: Antioxidants (Basel)
Pays: Switzerland
ID NLM: 101668981
Informations de publication
Date de publication:
22 Apr 2022
22 Apr 2022
Historique:
received:
04
03
2022
revised:
13
04
2022
accepted:
20
04
2022
entrez:
28
5
2022
pubmed:
29
5
2022
medline:
29
5
2022
Statut:
epublish
Résumé
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).
Identifiants
pubmed: 35624679
pii: antiox11050815
doi: 10.3390/antiox11050815
pmc: PMC9137766
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : University of Milano-Bicocca
ID : 2020-ATE-0270
Organisme : University of Milano-Bicocca
ID : 2020-ATE-0597
Organisme : Italian Ministry of Research and University
ID : 201534HNXC
Organisme : Università del Piemonte Orientale
ID : AGING Project for Department of Excellence at the Department of Translational Medicine (DIMET)
Organisme : Ministry of Health Italy
ID : RICERCA CORRENTE 2021-2022
Organisme : University of Milano-Bicocca
ID : 2020-ATE-0592
Organisme : Fondazione I.R.C.C.S. Casa Sollievo della Sofferenza
ID : RV17DSCSLA
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