Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy

Proceedings of the National Academy of Sciences of the United States of America

Volumn 109, Issue 16, 2012, Pages 6165-6170

  Ke, Bi Xia ^a   Pepe, Salvatore ^a,b   Grubb, David R ^a,e   Komen, Jasper C ^a   Laskowski, Adrienne ^a   Rodda, Felicity A ^a,b   Hardman, Belinda M ^a   Pitt, James J ^a,b   Ryan, Michael T ^c,d   Lazarou, Michael ^c,f   Koleff, Jane ^a   Cheung, Michael M H ^a,c   Smolich, Joseph J ^a,b   Thorburn, David R ^a,b  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c LA TROBE UNIVERSITY   (Australia)

^d LA TROBE UNIVERSITY   (Australia)

^e BAKER IDI HEART AND DIABETES INSTITUTE   (Australia)

^f NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

Author keywords

Mitochondrial diseases; Mouse model

Indexed keywords

ADENOSINE TRIPHOSPHATE; NDUFS6 PROTEIN; PROTEIN; REACTIVE OXYGEN METABOLITE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL TISSUE; ARTICLE; CARDIOMYOPATHY; CARDIOVASCULAR RISK; EMBRYONIC STEM CELL; ENZYME DEFECT; FEMALE; FIBROSIS; GENE INSERTION; GENE SILENCING; HEART DEATH; HEART FAILURE; HEART LEFT VENTRICLE CONTRACTION; HEART OUTPUT; MALE; MITOCHONDRIAL COMPLEX I DEFICIENCY; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROTEIN ISOLATION; SYNTHESIS; ULTRASTRUCTURE; WILD TYPE; WORK CAPACITY;

ADENOSINE TRIPHOSPHATE; ANIMALS; ANIMALS, NEWBORN; BLOTTING, WESTERN; CARDIOMYOPATHIES; CARNITINE; CELL LINE; ELECTRON TRANSPORT COMPLEX I; FEMALE; GENE EXPRESSION PROFILING; HEART; HUMANS; KAPLAN-MEIER ESTIMATE; MALE; MICE; MICE, 129 STRAIN; MICE, INBRED C57BL; MICE, KNOCKOUT; MICROSCOPY, ELECTRON; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MUTAGENESIS, INSERTIONAL; MYOCARDIUM; NADH DEHYDROGENASE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICING;

EID: 84859942984     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1113987109     Document Type: Article

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