Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice

In humans, MPV17 mutations are responsible for severe mitochondrial depletion syndrome, mainly affecting the liver and the nervous system. To gain insight into physiopathology of MPV17-related disease, we investigated an available Mpv17 knockout animal model. We found severe mtDNA depletion in liver...

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Bibliographic Details
Published in:	Human molecular genetics Vol. 18; no. 1; pp. 12 - 26
Main Authors:	Viscomi, Carlo, Spinazzola, Antonella, Maggioni, Marco, Fernandez-Vizarra, Erika, Massa, Valeria, Pagano, Claudio, Vettor, Roberto, Mora, Marina, Zeviani, Massimo
Format:	Journal Article
Language:	English
Published:	Oxford Oxford University Press 01-01-2009 Oxford Publishing Limited (England)
Subjects:	Age of Onset Animals Biological and medical sciences Cells, Cultured Disease Models, Animal DNA, Mitochondrial - genetics DNA, Mitochondrial - metabolism Fibroblasts - metabolism Fundamental and applied biological sciences. Psychology Genetics of eukaryotes. Biological and molecular evolution Glomerulosclerosis, Focal Segmental - epidemiology Glomerulosclerosis, Focal Segmental - genetics Glomerulosclerosis, Focal Segmental - metabolism Humans Liver - metabolism Medical sciences Membrane Proteins - genetics Membrane Proteins - metabolism Mice Mice, Knockout Mitochondrial Proteins - genetics Mitochondrial Proteins - metabolism Molecular and cellular biology Nephrology. Urinary tract diseases Organ Specificity Proteinuria - epidemiology Proteinuria - genetics Proteinuria - metabolism Transcription Factors - genetics Transcription Factors - metabolism Transcription, Genetic Urinary system involvement in other diseases. Miscellaneous Urinary tract. Prostate gland Kidney disease Late Urinary system disease Depletion Nephropathy Digestive system Liver Null mutation Genetics Early Mitochondrial DNA Proteinuria
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