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Dokumenttyp:
journal article 
Autor(en):
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 Hrab?; Klopstock, Thomas 
Titel:
MTO1-deficient mouse model mirrors the human phenotype showing complex I defect and cardiomyopathy. 
Abstract:
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 mirrors the human phenotype remarkably well. As in patients, the most prominent signs and symptoms were cardiovascular and included bradycardia and cardiomyopathy. In addition, the mutant mice showed a ma...    »
 
Zeitschriftentitel:
PLoS ONE 
Jahr:
2014 
Band / Volume:
Heft / Issue:
12 
Seitenangaben Beitrag:
e114918 
Sprache:
eng 
TUM Einrichtung:
Institut für Humangenetik