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• W1967526473 abstract "Mitochondrial ATP synthase plays a central role in cell function by synthesising most of the ATP in human tissues. In different cells, active regulation of mitochondrial ATP synthase in response to cellular energy demand has been demonstrated, as well as its alteration under several pathological conditions affecting oxidative phosphorylation (OXPHOS). Traditionally, detection of OXPHOS defects is based on the spectrophotometric measurement of respiratory chain complex activities in muscle biopsies. Considering the broad clinical spectrum of mitochondrial disorders, and the difficulty in arriving at a single diagnostic method, in this study we propose measurement of ATP synthesis in mitochondria from skin fibroblasts as an effective screening tool. In the light of our results this assessment emerges as a useful marker of impaired energy production in primary OXPHOS disorders of childhood and as a tool with the potential to drive further molecular genetic studies." @default.
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• W1967526473 date "2009-05-01" @default.
• W1967526473 modified "2023-10-10" @default.
• W1967526473 title "Assaying ATP synthesis in cultured cells: A valuable tool for the diagnosis of patients with mitochondrial disorders" @default.
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• W1967526473 doi "https://doi.org/10.1016/j.bbrc.2009.03.121" @default.
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