Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and autosomal dominant progressive external ophthalmoplegia

By Roos Sara   Macao Bertil   Fusté Javier Miralles   Lindberg Christopher   Jemt Elisabeth   Holme Elisabeth   Moslemi Ali-Reza   Oldfors Anders   Falkenberg Maria  

Human Molecular Genetics, Vol. 22, Iss. 12, 2013-06 ,pp. : 2411-2422

Oxford University Press

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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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Progressive loss of mitochondrial DNA in thymidine kinase 2-deficient mice

By Zhou Xiaoshan   Solaroli Nicola   Bjerke Mia   Stewart James B.   Rozell Bjrn   Johansson Magnus   Karlsson Anna  

Human Molecular Genetics, Vol. 17, Iss. 15, 2008-08 ,pp. : 2329-2335

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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Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling

By Goffart Steffi   Cooper Helen M.   Tyynismaa Henna   Wanrooij Sjoerd   Suomalainen Anu   Spelbrink Johannes N.  

Human Molecular Genetics, Vol. 18, Iss. 2, 2009-01 ,pp. : 328-340

Oxford University Press

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