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MTO1-Deficient Mouse Model Mirrors the Human Phenotype Showing Complex I Defect and Cardiomyopathy

Recently, mutations in the mitochondrial translation optimization factor 1 gene (MTO1) were identified as causative in children with hypertrophic cardiomyopathy, lactic acidosis and respiratory chain defect. Here, we describe an MTO1-deficient mouse model generated by gene trap mutagenesis that mirr...

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Detalles Bibliográficos
Autores principales: Becker, Lore, Kling, Eva, Schiller, Evelyn, Zeh, Ramona, Schrewe, Anja, Hölter, Sabine M., Mossbrugger, Ilona, Calzada-Wack, Julia, Strecker, Valentina, Wittig, Ilka, Dumitru, Iulia, Wenz, Tina, Bender, Andreas, Aichler, Michaela, Janik, Dirk, Neff, Frauke, Walch, Axel, Quintanilla-Fend, Leticia, Floss, Thomas, Bekeredjian, Raffi, Gailus-Durner, Valérie, Fuchs, Helmut, Wurst, Wolfgang, Meitinger, Thomas, Prokisch, Holger, de Angelis, Martin Hrabě, Klopstock, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266617/
https://www.ncbi.nlm.nih.gov/pubmed/25506927
http://dx.doi.org/10.1371/journal.pone.0114918