The main research topic is the functional characterization of novel pathological defects of the mitochondrial ATP generating system. These include genetic defects in components of the oxidative phosphorylation system, and biochemical defects for which the causative enzyme and genetic defects have not yet been identified. The functioning of the mitochondrial ATP production machinery is examined in human cell culture models, including primary fibroblasts and muscle cell lines, using a variety of biochemical methods, such as ATP production and pyruvate oxidation rate measurements, oxygen consumption assays, and respiratory chain enzyme activity assays. The aim of my research is to characterize the biochemical pathways involved in mitochondrial oxidative ATP production, both in health and in disease. The latter includes both primary mitochondrial disorders, as well as other diseases in which mitochondrial energy metabolism plays an important role.
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