Loss of Tsc1 , but not Pten , in renal tubular cells causes polycystic kidney disease by activating mTORC1

By Zhou Jing   Brugarolas James   Parada Luis F.  

Human Molecular Genetics, Vol. 18, Iss. 22, 2009-11 ,pp. : 4428-4441

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.  

Human Molecular Genetics, Vol. 19, Iss. 11, 2010-06 ,pp. : 2123-2133

Oxford University Press

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OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules

By Yu-Wai-Man Patrick   Sitarz Kamil S.   Samuels David C.   Griffiths Philip G.   Reeve Amy K.   Bindoff Laurence A.   Horvath Rita   Chinnery Patrick F.  

Human Molecular Genetics, Vol. 19, Iss. 15, 2010-08 ,pp. : 3043-3052

Oxford University Press

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PGC-1/ upregulation is associated with improved oxidative phosphorylation in cells harboring nonsense mtDNA mutations

By Srivastava Sarika   Barrett John N.   Moraes Carlos T.  

Human Molecular Genetics, Vol. 16, Iss. 8, 2007-04 ,pp. : 993-1005

Oxford University Press

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Introduction of heteroplasmic mitochondrial DNA (mtDNA) from a patient with NARP into two human ° cell lines is associated either with selection and maintenance of NARP mutant mtDNA or failure to maintain mtDNA

By Vergani L.   Rossi R.   Brierley C. H.  

Human Molecular Genetics, Vol. 8, Iss. 9, 1999-09 ,pp. : 1751-1755

Oxford University Press

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