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Matches in SemOpenAlex for { <https://semopenalex.org/work/W2012102114> ?p ?o ?g. }

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• W2012102114 startingPage "2236" @default.
• W2012102114 abstract "A severe mitochondrial protein synthesis defect in myoblasts from a patient with mitochondrial myopathy was transferred with myoblast mitochondria into two genetically unrelated mitochondrial DNA (mtDNA)-less human cell lines, pointing to an mtDNA alteration as being responsible and sufficient for causing the disease. The transfer of the defect correlated with marked deficiencies in respiration and cytochrome c oxidase activity of the transformants and the presence in their mitochondria of mtDNA carrying a tRNA(Lys) mutation. Furthermore, apparently complete segregation of the defective genotype and phenotype was observed in the transformants derived from the heterogeneous proband myoblast population, suggesting that the mtDNA heteroplasmy in this population was to a large extent intercellular. The present work thus establishes a direct link between mtDNA alteration and a biochemical defect." @default.
• W2012102114 created "2016-06-24" @default.
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• W2012102114 date "1991-04-01" @default.
• W2012102114 modified "2023-10-15" @default.
• W2012102114 title "In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria." @default.
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• W2012102114 doi "https://doi.org/10.1128/mcb.11.4.2236" @default.
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