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OPA1: How much do we know to approach therapy?
Del Dotto, Valentina; Fogazza, Mario; Lenaers, Guy; Rugolo, Michela; Carelli, Valerio; Zanna, Claudia.
Afiliação
  • Del Dotto V; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
  • Fogazza M; Department of Pharmacy and Biotechnology (FABIT), University of Bologna, Bologna, Italy.
  • Lenaers G; MitoLab team, CNRS UMR6015, INSERM U1083, Institut MitoVasc, Université d'Angers, 49933 Angers cedex 9, France.
  • Rugolo M; Department of Pharmacy and Biotechnology (FABIT), University of Bologna, Bologna, Italy.
  • Carelli V; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy; IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy. Electronic address: valerio.carelli@unibo.it.
  • Zanna C; Department of Pharmacy and Biotechnology (FABIT), University of Bologna, Bologna, Italy. Electronic address: claudia.zanna@unibo.it.
Pharmacol Res ; 131: 199-210, 2018 05.
Article em En | MEDLINE | ID: mdl-29454676
ABSTRACT
OPA1 is a GTPase that controls several functions, such as mitochondrial dynamics and energetics, mtDNA maintenance and cristae integrity. In the last years, there have been described other cellular pathways and mechanisms involving OPA1 directly or through its interaction. All this new information, by implementing our knowledge on OPA1 is instrumental to elucidating the pathogenic mechanisms of OPA1 mutations. Indeed, these are associated with dominant optic atrophy (DOA), one of the most common inherited optic neuropathies, and with an increasing number of heterogeneous neurodegenerative disorders. In this review, we overview all recent findings on OPA1 protein functions, on its dysfunction and related clinical phenotypes, focusing on the current therapeutic options and future perspectives to treat DOA and the other associated neurological disorders due to OPA1 mutations.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Atrofia Óptica Autossômica Dominante / GTP Fosfo-Hidrolases / Mutação Idioma: En Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Atrofia Óptica Autossômica Dominante / GTP Fosfo-Hidrolases / Mutação Idioma: En Ano de publicação: 2018 Tipo de documento: Article