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23 p, 4.0 MB MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria / Dalla Rosa, Ilaria (MRC Mill Hill Laboratory, London, United Kingdom) ; Cámara, Yolanda (Vall d'Hebron Institut de Recerca. Laboratori de Trastorns Mitocondrials) ; Durigon, Romina (MRC Mill Hill Laboratory) ; Moss, Chloe F. (MRC Mill Hill Laboratory) ; Vidoni, Sara (MRC Mitochondrial Biology Unit, Wellcome Trust-MRC Building) ; Akman, Gokhan (MRC Mill Hill Laboratory) ; Hunt, Lilian (MRC Mill Hill Laboratory) ; Johnson, Mark A. (MRC Mitochondrial Biology Unit, Wellcome Trust-MRC Building) ; Grocott, Sarah (Mitochondrial Genetics Group, Nuffield Department of Obstetrics and Gynaecology, Women's Centre, The John Radcliffe Hospital, Oxford, United Kingdom) ; Wang, Liya (Department of Anatomy, Physiology and Biochemistry, The Swedish University of Agricultural Sciences, Biomedical Center) ; Thorburn, David R. (Murdoch Childrens Research Institute and University of Melbourne Department of Paediatrics, Royal Children's Hospital) ; Hirano, Michio (Department of Neurology, Columbia University Medical Center, New York, New York, United States of America) ; Poulton, Joanna (Mitochondrial Genetics Group, Nuffield Department of Obstetrics and Gynaecology, Women's Centre, The John Radcliffe Hospital) ; Taylor, Robert W. (Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, The Medical School, Newcastle upon Tyne) ; Elgar, Greg (MRC Mill Hill Laboratory) ; Martí Seves, Ramon (Biomedical Network Research Centre on Rare Diseases, Instituto de Salud Carlos III) ; Voshol, Peter (Institute of Metabolic Science, University of Cambridge) ; Holt, Ian J. (MRC Mill Hill Laboratory, London) ; Spinazzola, Antonella (MRC Mill Hill Laboratory) ; Universitat Autònoma de Barcelona
MPV17 is a mitochondrial inner membrane protein whose dysfunction causes mitochondrial DNA abnormalities and disease by an unknown mechanism. Perturbations of deoxynucleoside triphosphate (dNTP) pools are a recognized cause of mitochondrial genomic instability; therefore, we determined DNA copy number and dNTP levels in mitochondria of two models of MPV17 deficiency. [...]
2016 - 10.1371/journal.pgen.1005779
PLoS Genetics, Vol. 12 (january 2016)  

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