Defects of mitochondrial membrane-bound transport proteins in human mitochondriopathies: A biochemical approach
| Autor: | Ruitenbeek, W., Huizing, M., Pinto, V. de, Thinnes, F.P., Trijbels, J.M.F., Wendel, U.A.H., Sengers, R.C.A., Palmieri, F., Papa, S., Saccone, C., Gadaleta, M.N. |
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| Přispěvatelé: | Palmieri, F., Papa, S., Saccone, C., Gadaleta, M.N. |
| Jazyk: | angličtina |
| Rok vydání: | 1995 |
| Předmět: |
chemistry.chemical_classification
Voltage-dependent anion channel biology Energy metabolism in human skeletal muscle Respiratory chain food and beverages Pyruvate dehydrogenase complex Transport protein Citric acid cycle Enzyme Membrane Biochemistry chemistry Energievoorziening in de menselijke spier onder fysiologische en pathologische condities biology.protein Inner mitochondrial membrane |
| Zdroj: | Palmieri, F.; Papa, S.; Saccone, C. (ed.), Progress in cell research. Palmieri, F.; Papa, S.; Saccone, C. (ed.), Progress in cell research.. Amsterdam : Elsevier Science b.v. |
| Popis: | In part of the patients with a disturbance in the mitochondrial energy metabolism, the defect can not be ascribed to a default in the respiratory chain, citric acid cycle or pyruvate dehydrogenase complex. Incubations of muscle mitochondria with various substrates under different conditions render it likely that defects in transport systems in the mitochondrial membranes, besides the known enzyme deficiencies, can be the cause of the biochemical abnormalities in human mitochondriopathies. This approach has resulted in the detection of two rare deficiencies: one in the ATP/ADP-translocator and another in the voltage-dependent anion channel (VDAC) protein. |
| Databáze: | OpenAIRE |
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