Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy
Bi-Xia Ke, Salvatore Pepe, David R Grubb, Jasper C Komen, Adrienne Laskowski, Felicity A Rodda, Belinda M Hardman, James J Pitt, Michael T Ryan, Michael Lazarou, Jane Koleff, Michael MH Cheung, Joseph J Smolich, David R Thorburn
Proceedings of the National Academy of Sciences of the United States of America | NATL ACAD SCIENCES | Published : 2012
We thank Andrew Heinmiller for assistance with the acquisition of Vevo 2100 echocardiographic images and the staff from Murdoch Childrens Research Institute's animal facility, Victorian Clinical Genetics Services Pathology Newborn Screening Laboratory, Transgenic Animal Service of Queensland, Royal Children's Hospital Department of Anatomical Pathology, University of Melbourne Electron Microscopy Unit, and Florey Neuroscience Institute Integrative Neuroscience Facility for excellent technical support. This work was supported by grants and a Principal Research Fellowship from the Australian National Health and Medical Research Council (to D. R. T.), the Muscular Dystrophy Association, the SMILE Foundation, the Jenour Foundation, the Financial Markets Foundation for Children, and the Victorian Government's Operational Infrastructure Support Program.