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We reversed the blindness by gene therapy with the wild-type allele. To our knowledge, this is the first description of a mouse model with the same genotype and phenotype as the human counterpart disorder. This innovative technology has implications not only for creating mouse models of mutant mtDNA but also for treating the mitochondrial dysfunction with gene therapy.<\/jats:p>","DOI":"10.1073\/pnas.1506129112","type":"journal-article","created":{"date-parts":[[2015,10,5]],"date-time":"2015-10-05T22:58:48Z","timestamp":1444085928000},"update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":40,"title":["Consequences of zygote injection and germline transfer of mutant human mitochondrial DNA in mice"],"prefix":"10.1073","volume":"112","author":[{"given":"Hong","family":"Yu","sequence":"first","affiliation":[{"name":"Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami FL 33136;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajeshwari D.","family":"Koilkonda","sequence":"additional","affiliation":[{"name":"Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami FL 33136;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsung-Han","family":"Chou","sequence":"additional","affiliation":[{"name":"Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami FL 33136;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vittorio","family":"Porciatti","sequence":"additional","affiliation":[{"name":"Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami FL 33136;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arpit","family":"Mehta","sequence":"additional","affiliation":[{"name":"Hussman Institute of Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian D.","family":"Hentall","sequence":"additional","affiliation":[{"name":"Miami Project to Cure Paralysis, University of Miami Miller School of Medicine, Miami, FL 33136;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vince A.","family":"Chiodo","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Florida College of Medicine, Gainesville, FL 32603;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanford L.","family":"Boye","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Florida College of Medicine, Gainesville, FL 32603;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William W.","family":"Hauswirth","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Florida College of Medicine, Gainesville, FL 32603;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4192-9727","authenticated-orcid":false,"given":"Alfred S.","family":"Lewin","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics and Microbiology, University of Florida College of Medicine, Gainesville, FL 32603"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Guy","sequence":"additional","affiliation":[{"name":"Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami FL 33136;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2015,10,5]]},"reference":[{"key":"e_1_3_3_1_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.283.5407.1482"},{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.79.15.4686"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0892-359"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199509073331007"},{"key":"e_1_3_3_5_2","first-page":"235","article-title":"Heart disease and mitochondrial DNA mutations","volume":"1","author":"Shoffner JM","year":"1992","unstructured":"JM Shoffner, DC Wallace, Heart disease and mitochondrial DNA mutations. 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