OPA1 deficit and cardiac mitochondria

Autor: Piquereau, Jerome, Caffin, Fanny, Novotova, Marta, Prola, Alexandre, Garnier, Anne, Mateo, Philippe, Fortin, Dominique, Huynh, Le Ha, Nicolas, Valérie, Alavi, Marcel, Brenner, Catherine, Ventura-Clapier, Renée, Veksler, Vladimir, Joubert, Frédéric

Publikováno v: Cardiovascular Research
Cardiovascular Research, Oxford University Press (OUP), 2012, 94 (3), pp.408-17. ⟨10.1093/cvr/cvs117⟩

International audience; AIMS: The optic atrophy 1 (OPA1) protein is an essential protein involved in the fusion of the mitochondrial inner membrane. Despite its high level of expression, the role of OPA1 in the heart is largely unknown. We investigat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2079f488acc47270af7bacfba532c1b0
https://www.hal.inserm.fr/inserm-00871865/document

OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background

Autor: Christophe Rocher, Denis Pierron, Pascal Reynier, Didier Thoraval, Thierry Letellier, Patrizia Amati-Bonneau, Marc Ferré, Pascal Murail, Arnaud Chevrollier

Publikováno v: BMC Medical Genetics
BMC Medical Genetics, BioMed Central, 2009, 10:70, 1-8 (page number not for citation purposes). ⟨10.1186/1471-2350-10-70⟩
BMC Medical Genetics, Vol 10, Iss 1, p 70 (2009)
BMC Medical Genetics, BioMed Central, 2009, 10 (1), pp.70. ⟨10.1186/1471-2350-10-70⟩
BMC Medical Genetics, 2009, 10 (1), pp.70. ⟨10.1186/1471-2350-10-70⟩

Background Leber's hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (ADOA) are the most frequent forms of hereditary optic neuropathies. LHON is associated with mitochondrial DNA (mtDNA) mutations whereas ADOA is mainly due to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ae778aa4f62c4c01a3b271625d5ba04
https://halshs.archives-ouvertes.fr/halshs-00433468

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

Autor: Rafael Garesse, Carmen Ayuso, Bernd Wissinger, Katell Beauvais, Luisa Iommarini, Joaquiotan Arenas, Dominique Figarella-Branger, Yolanda Campos, Valerio Carelli, Chiara La Morgia, Miguel A. Martín, Alain Furby, Michela Rugolo, Andrea Cossarizza, Claudia Zanna, Pascal Reynier, Pascale Marcorelles, Maria Liguori, Henry Rivera, Jesús González de la Aleja, Pasquale Montagna, María Esther Gallardo, Guy Lenaers, Robert Schwarzenbacher, Rosanna Carroccia, Patrizia Amati-Bonneau, Franck Letournel, Dominique Bonneau, Rocco Liguori, Belén Bornstein, Anne Boissiere, Maria Lucia Valentino, Christophe Verny, Pierre Labauge

Publikováno v: Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2008, 131 (Pt 2), pp.338-51. ⟨10.1093/brain/awm298⟩
Brain-A Journal of Neurology, 2008, 131 (Pt 2), pp.338-51. ⟨10.1093/brain/awm298⟩
Digital.CSIC. Repositorio Institucional del CSIC
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This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License.-- et al.
Mutations in OPA1, a dynamin-related GTPase involved in mitochondrial fusion, cristae organization and control of apo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eeca1b2b92e1571ea516c89c32dd04b4
https://www.hal.inserm.fr/inserm-00293604

Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis.: OPA1: mitochondrial morphology, apoptosis, and optic atrophy

Autor: Olichon, Aurélien, Landes, Thomas, Arnauné-Pelloquin, Laetitia, Emorine, Laurent, Mils, Valérie, Guichet, Agnès, Delettre, Cécile, Hamel, Christian, Amati-Bonneau, Patrizia, Bonneau, Dominique, Reynier, Pascal, Lenaers, Guy, Belenguer, Pascale

Publikováno v: Journal of Cellular Physiology
Journal of Cellular Physiology, Wiley, 2007, 211 (2), pp.423-30. ⟨10.1002/jcp.20950⟩

To characterize the molecular links between type-1 autosomal dominant optic atrophy (ADOA) and OPA1 dysfunctions, the effects of pathogenic alleles of this dynamin on mitochondrial morphology and apoptosis were analyzed, either in fibroblasts from af

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a3f54c6c6442ac9465a6461b17fd6fe5
https://www.hal.inserm.fr/inserm-00164120