title: Pathways to mitochondrial dysfunction in ALS pathogenesis.
abstract: Alterations in the structure and functions of mitochondria are a typical trait of Amyotrophic Lateral Sclerosis, a neurodegenerative disease characterized by a prominent degeneration of upper and lower motor neurons. The known gene mutations that are responsible for a small fraction of ALS cases point to a complex interplay between different mechanisms in the disease pathogenesis. Here we will briefly overview the genetic and mechanistic evidence that make dysfunction of mitochondria a candidate major player in this process.
authors.affiliation: Department of Biology, Università di Roma "Tor Vergata", Via della Ricerca Scientifica, 00133, Rome, Italy; Fondazione Santa Lucia, IRCCS, Via del Fosso di Fiorano 64, 00143, Rome, Italy. Electronic address: carri@uniroma2.it.
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Carrì
authors.affiliation: Institute of Anatomy and Cell Biology, Università Cattolica del Sacro Cuore, Largo Francesco Vito 1, 00168, Rome, Italy. Electronic address: nadia.dambrosi@unicatt.it.
authors.forename: Nadia
authors.initials: N
authors.lastname: D'Ambrosi
authors.affiliation: Institute of Translational Pharmacology, CNR, Via del Fosso del Cavaliere 100, 00133, Rome, Italy. Electronic address: mauro.cozzolino@ift.cnr.it.
authors.forename: Mauro
authors.initials: M
authors.lastname: Cozzolino
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology*; D000818:Animals; D006801:Humans; D008928:Mitochondria / Q000378:metabolism / Q000502:physiology*; D009154:Mutation
keywords: Alternative splicing; Amyotrophic Lateral Sclerosis; Mitochondria; Mitophagy; Protein aggregation