Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase  associated with progressive external ophthalmoplegia

By Stuart Gregory R.   Santos Janine H.   Strand Micheline K.   Van Houten Bennett   Copeland William C.  

Human Molecular Genetics, Vol. 15, Iss. 2, 2006-01 ,pp. : 363-374

Oxford University Press

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Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans

By Baruffini Enrico   Lodi Tiziana   Puglisi Andrea   Zeviani Massimo   Ferrero Iliana  

Human Molecular Genetics, Vol. 15, Iss. 19, 2006-10 ,pp. : 2846-2855

Oxford University Press

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Mutations in AAC2 , equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability

By Fontanesi Flavia  

Human Molecular Genetics, Vol. 13, Iss. 9, 2004-05 ,pp. : 923-934

Oxford University Press

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Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion

By Hakonen Anna H.   Goffart Steffi   Marjavaara Sanna   Paetau Anders   Cooper Helen   Mattila Kimmo   Lampinen Milla   Sajantila Antti   Lnnqvist Tuula   Spelbrink Johannes N.   Suomalainen Anu  

Human Molecular Genetics, Vol. 17, Iss. 23, 2008-12 ,pp. : 3822-3835

Oxford University Press

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

By Gilkerson Robert W.   De Vries Rosa L.A.   Lebot Paul   Wikstrom Jakob D.   Torgyekes Edina   Shirihai Orian S.   Przedborski Serge   Schon Eric A.  

Human Molecular Genetics, Vol. 21, Iss. 5, 2012-03 ,pp. : 978-990

Oxford University Press

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