{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T19:48:13Z","timestamp":1790711293890,"version":"4.1.0"},"reference-count":50,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2017,4,4]],"date-time":"2017-04-04T00:00:00Z","timestamp":1491264000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001677","name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001677","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004794","name":"Centre National de la Recherche Scientifique","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004794","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007745","name":"Angers Loire M\u00e9tropole","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007745","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Cellular Molecular Medi"],"published-print":{"date-parts":[[2017,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Optic Atrophy 1 (\n                    <jats:styled-content style=\"fixed-case\">OPA<\/jats:styled-content>\n                    1) gene mutations cause diseases ranging from isolated dominant optic atrophy (\n                    <jats:styled-content style=\"fixed-case\">DOA<\/jats:styled-content>\n                    ) to various multisystemic disorders.\n                    <jats:styled-content style=\"fixed-case\">OPA<\/jats:styled-content>\n                    1, a large\n                    <jats:styled-content style=\"fixed-case\">GTP<\/jats:styled-content>\n                    ase belonging to the dynamin family, is involved in mitochondrial network dynamics. The majority of\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">OPA<\/jats:styled-content>\n                      1\n                    <\/jats:italic>\n                    mutations encodes truncated forms of the protein and causes\n                    <jats:styled-content style=\"fixed-case\">DOA<\/jats:styled-content>\n                    through haploinsufficiency, whereas missense\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">OPA<\/jats:styled-content>\n                      1\n                    <\/jats:italic>\n                    mutations are predicted to cause disease through deleterious dominant\u2010negative mechanisms. We used 3D imaging and biochemical analysis to explore autophagy and mitophagy in fibroblasts from seven patients harbouring\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">OPA<\/jats:styled-content>\n                      1\n                    <\/jats:italic>\n                    mutations. We report new genotype\u2013phenotype correlations between various types of\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">OPA<\/jats:styled-content>\n                      1\n                    <\/jats:italic>\n                    mutation and mitophagy. Fibroblasts bearing dominant\u2010negative\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">OPA<\/jats:styled-content>\n                      1\n                    <\/jats:italic>\n                    mutations showed increased autophagy and mitophagy in response to uncoupled oxidative phosphorylation. In contrast,\n                    <jats:styled-content style=\"fixed-case\">OPA<\/jats:styled-content>\n                    1 haploinsufficiency was correlated with a substantial reduction in mitochondrial turnover and autophagy, unless subjected to experimental mitochondrial injury. Our results indicate distinct alterations of mitochondrial physiology and turnover in cells with\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">OPA<\/jats:styled-content>\n                      1\n                    <\/jats:italic>\n                    mutations, suggesting that the level and profile of\n                    <jats:styled-content style=\"fixed-case\">OPA<\/jats:styled-content>\n                    1 may regulate the rate of mitophagy.\n                  <\/jats:p>","DOI":"10.1111\/jcmm.13149","type":"journal-article","created":{"date-parts":[[2017,4,5]],"date-time":"2017-04-05T13:44:09Z","timestamp":1491399849000},"page":"2284-2297","source":"Crossref","is-referenced-by-count":50,"title":["Autophagy controls the pathogenicity of\n                    <i>\n                      <scp>OPA<\/scp>\n                      1\n                    <\/i>\n                    mutations in dominant optic atrophy"],"prefix":"10.1111","volume":"21","author":[{"given":"Mariame Selma","family":"Kane","sequence":"first","affiliation":[{"name":"PREMMi\/Mitochondrial Medicine Research Centre Institut MITOVASC CNRS UMR 6015 INSERM U1083 Universit\u00e9 d'Angers, CHU d'Angers Angers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Alban","sequence":"additional","affiliation":[{"name":"PREMMi\/Mitochondrial Medicine Research Centre Institut MITOVASC CNRS UMR 6015 INSERM U1083 Universit\u00e9 d'Angers, CHU d'Angers Angers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Desquiret\u2010Dumas","sequence":"additional","affiliation":[{"name":"PREMMi\/Mitochondrial Medicine Research Centre Institut MITOVASC CNRS UMR 6015 INSERM U1083 Universit\u00e9 d'Angers, CHU d'Angers Angers France"},{"name":"D\u00e9partement de Biochimie et G\u00e9n\u00e9tique Centre Hospitalier Universitaire Angers 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