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Mitochondrial oxidative phosphorylation deficiency is accompanied by various down-stream, adaptive responses which play a key role in the varied phenotypes observed when mitochondrial dysfunction… (More)
The role of MT (metallothionein) gene expression was investigated in rotenone-treated HeLa cells to induce a deficiency of NADH:ubiquinone oxidoreductase (complex I). Complex I deficiency leads to a… (More)
A young, adult, African male patient presented with progressive proximal muscle weakness, external ophthalmoplegia and ptosis, as well as cardiac conduction abnormalities resembling Kearns–Sayre… (More)
Abstract In clinical diagnostics, the detection and identification of bacterial organisms based on the analysis of their nucleic acids require cell lysis and DNA extraction from clinical samples. A… (More)
Genetic, biochemical and phenotypic diversity is a hallmark of OXPHOS deficiencies. Among the responses frequently reported for these deficiencies is differential expression of several genes involved… (More)