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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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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Mitochondrial tRNA Leu isoforms in lung carcinoma cybrid cells containing the np 3243 mtDNA mutation

By El Meziane A.  

Human Molecular Genetics, Vol. 7, Iss. 13, 1998-12 ,pp. : 2141-2147

Oxford University Press

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Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNA Ile mutation causing hypertrophic cardiomyopathy

By Perli Elena   Giordano Carla   Tuppen Helen A.L.   Montopoli Monica   Montanari Arianna   Orlandi Maurizia   Pisano Annalinda   Catanzaro Daniela   Caparrotta Laura   Musumeci Beatrice   Autore Camillo   Morea Veronica   Di Micco Patrizio   Campese Antonio F.   Leopizzi Martina   Gallo Pietro   Francisci Silvia   Frontali Laura   Taylor Robert W.   d'Amati Giulia  

Human Molecular Genetics, Vol. 21, Iss. 1, 2012-01 ,pp. : 85-100

Oxford University Press

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Suppression of a mitochondrial tRNA gene mutation phenotype associated with changes in the nuclear background

By Hao Huiling  

Human Molecular Genetics, Vol. 8, Iss. 6, 1999-06 ,pp. : 1117-1124

Oxford University Press

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