Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations

By Ashley Neil   O'Rourke Anthony   Smith Conrad   Adams Susan   Gowda Vasantha   Zeviani Massimo   Brown Garry K.   Fratter Carl   Poulton Joanna  

Human Molecular Genetics, Vol. 17, Iss. 16, 2008-08 ,pp. : 2496-2506

Oxford University Press

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mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae

By Stumpf Jeffrey D.   Bailey Christopher M.   Spell Diana   Stillwagon Matthew   Anderson Karen S.   Copeland William C.  

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Oxford University Press

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Mutations in human DNA polymerase γ confer unique mechanisms of catalytic deficiency that mirror the disease severity in mitochondrial disorder patients

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Human Molecular Genetics, Vol. 22, Iss. 6, 2013-03 ,pp. : 1074-1085

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Mitochondrial autophagy in cells with mtDNA mutations results from synergistic loss of transmembrane potential and mTORC1 inhibition

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Deleterious mutations in animal mitochondrial DNA

By Nachman M.W.  

Genetica, Vol. 102, Iss. 1, 1998-01 ,pp. : 61-69

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