Article
Comparative analysis of the pathogenic mechanisms associated with the G8363A and A8296G mutations in the mitochondrial tRNA(Lys) gene.
The Biochemical journal - 1 May 2005
Bornstein Belén, Mas José Antonio, Patrono Clarice, Fernández-Moreno Miguel Angel, González-Vioque Emiliano, Campos Yolanda, Carrozzo Rosalba, Martín Miguel Angel, del Hoyo Pilar, Santorelli Filippo M, Arenas Joaquín, Garesse Rafael
Abstract excerpt
Two mutations (G8363A and A8296G) in the mtDNA (mitochondrial DNA) tRNA(Lys) gene have been associated with severe mitochondrial diseases in a number of reports. Their functional significance, however, remains unknown. We have already shown that homoplasmic cybrids harbouring the A8296G mutation display normal oxidative phosphorylation, although the possibility of a subtle change in mitochondrial respiratory...
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