Research Article
Open Access
PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes
Tian Zhao, Caitlin M Goedhart, Pingdewinde N Sam, View ORCID ProfileRasha Sabouny, Susanne Lingrell, Adam J Cornish, Ryan E Lamont, Francois P Bernier, David Sinasac, Jillian S Parboosingh, Care4Rare Canada Consortium, Jean E Vance, View ORCID ProfileSteven M Claypool, View ORCID ProfileA Micheil Innes Correspondence email, View ORCID ProfileTimothy E Shutt Correspondence email
Tian Zhao
1Alberta Children’s Hospital Research Institute, Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada
2Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada
Caitlin M Goedhart
1Alberta Children’s Hospital Research Institute, Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada
Pingdewinde N Sam
3Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA
Rasha Sabouny
1Alberta Children’s Hospital Research Institute, Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada
2Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada
Susanne Lingrell
4Department of Medicine and Group on Molecular and Cell Biology of Lipids, University of Alberta, Edmonton, Alberta, Canada
Adam J Cornish
3Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA
Ryan E Lamont
1Alberta Children’s Hospital Research Institute, Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada
Francois P Bernier
1Alberta Children’s Hospital Research Institute, Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada
6Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada
David Sinasac
1Alberta Children’s Hospital Research Institute, Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada
Jillian S Parboosingh
1Alberta Children’s Hospital Research Institute, Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada
Jean E Vance
4Department of Medicine and Group on Molecular and Cell Biology of Lipids, University of Alberta, Edmonton, Alberta, Canada
Steven M Claypool
3Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA
A Micheil Innes
1Alberta Children’s Hospital Research Institute, Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada
5Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada
6Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada
Timothy E Shutt
1Alberta Children’s Hospital Research Institute, Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada
2Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada
5Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada
Published 11 March 2019. DOI: 10.26508/lsa.201900353
PISD is a novel mitochondrial disease gene
Tian Zhao, Caitlin M Goedhart, Pingdewinde N Sam, Rasha Sabouny, Susanne Lingrell, Adam J Cornish, Ryan E Lamont, Francois P Bernier, David Sinasac, Jillian S Parboosingh, Care4Rare Canada Consortium, Jean E Vance, Steven M Claypool, A Micheil Innes, Timothy E Shutt
Life Science Alliance Mar 2019, 2 (2) e201900353; DOI: 10.26508/lsa.201900353
PISD is a novel mitochondrial disease gene
Tian Zhao, Caitlin M Goedhart, Pingdewinde N Sam, Rasha Sabouny, Susanne Lingrell, Adam J Cornish, Ryan E Lamont, Francois P Bernier, David Sinasac, Jillian S Parboosingh, Care4Rare Canada Consortium, Jean E Vance, Steven M Claypool, A Micheil Innes, Timothy E Shutt
Life Science Alliance Mar 2019, 2 (2) e201900353; DOI: 10.26508/lsa.201900353
In this Issue
Volume 2, No. 2
April 2019
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