2026-04-17T13:54:02Zhttps://recercat.cat/oai/request

oai:recercat.cat:10459.1/589182025-05-20T18:46:14Zcom_2072_3622col_2072_479130

00925njm 22002777a 4500 dc Gallart Palau, Xavier Ramon author Ng, Chee-Hoe author Ribera i Calvet, Joan author Sze, Siu Kwan author Lim, Kah-Leong author 2016 Mitochondrial pathology is a seminal pathogenic hallmark of familial amyotrophic lateral sclerosis (FALS) which is extensively manifested by human patients and mutant SOD1G93A mammalian models. Rodents expressing human FALS-associated mutations successfully mimic several human disease features; although they are not as amenable to genetic and therapeutic compound screenings as non-mammalian models. In this study, we report a newly generated and characterized Drosophila model that expresses human SOD1G93A in muscle fibers. Presence of SOD1G93A in thoracic muscles causes mitochondrial pathology and impairs normal motor behavior in these flies. Use of this new FALS-24B-SOD1G93A fly model holds promise for better understanding of the mitochondrial affectation process in FALS and for the discovery of novel therapeutic compounds able to reverse mitochondrial dysfunction in this fatal disease. ALS Superoxide dismutase 1 (SOD 1) Mitochondria Esclerosi lateral amiotròfica Drosòfila Mitocondris Superòxid dismutasa Amyotrophic lateral sclerosis Drosophila Mitochondria Superoxide dismutase Drosophila expressing human SOD1 successfully recapitulates mitochondrial phenotypic features of familial amyotrophic lateral sclerosis