A Novel Heteroplasmic tRNA leu(CUN) mtDNA Point Mutation in a Sporadic Patient With Mitochondrial Encephalomyopathy Segregates Rapidly in Skeletal Muscle and Suggests an Approach to Therapy

By Fu Katherine   Hartlen Rebecca   Johns Timothy   Genge Angela   Karpati George   Shoubridge Eric A.  

Human Molecular Genetics, Vol. 5, Iss. 11, 1996-11 ,pp. : 1835-1840

Oxford University Press

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Acquisition of the wobble modification in mitochondrial tRNA Leu(CUN) bearing the G12300A mutation suppresses the MELAS molecular defect

By Kirino Yohei   Yasukawa Takehiro   Marjavaara Sanna K.   Jacobs Howard T.   Holt Ian J.   Watanabe Kimitsuna   Suzuki Tsutomu  

Human Molecular Genetics, Vol. 15, Iss. 6, 2006-03 ,pp. : 897-904

Oxford University Press

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The A3243G tRNA Leu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2

By Sasarman Florin   Antonicka Hana   Shoubridge Eric A.  

Human Molecular Genetics, Vol. 17, Iss. 23, 2008-12 ,pp. : 3697-3707

Oxford University Press

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The np 3243 MELAS mutation: damned if you aminoacylate, damned if you don’t

By Jacobs Howard T.  

Human Molecular Genetics, Vol. 9, Iss. 4, 2000-03 ,pp. : 463-465

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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