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

By Sohl Christal D.   Kasiviswanathan Rajesh   Copeland William C.   Anderson Karen S.  

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

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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Functional dissection of sequence-specific NKX2-5 DNA binding domain mutations associated with human heart septation defects using a yeast-based system

By Inga Alberto  

Human Molecular Genetics, Vol. 14, Iss. 14, 2005-07 ,pp. : 1965-1975

Oxford University Press

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Introducing the human Leigh syndrome mutation T9176G into Saccharomyces cerevisiae mitochondrial DNA leads to severe defects in the incorporation of Atp6p into the ATP synthase and in the mitochondrial morphology

By Kucharczyk Roza   Salin Bndicte   di Rago J.-P.  

Human Molecular Genetics, Vol. 18, Iss. 15, 2009-08 ,pp. : 2889-2898

Oxford University Press

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