caa a22 4500 467933472 CHVBK 20180406152950.0 cr unu---uuuuu 170328e20060801xx s 000 0 eng 10.1007/s10545-006-0362-4 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0362-4 Mitochondrial complex I: Structure, function and pathology [Elektronische Daten] [Rolf Janssen, Leo Nijtmans, Lambert Heuvel, Jan Smeitink] Summary: Oxidative phosphorylation (OXPHOS) has a prominent role in energy metabolism of the cell. Being under bigenomic control, correct biogenesis and functioning of the OXPHOS system is dependent on the finely tuned interaction between the nuclear and the mitochondrial genome. This suggests that disturbances of the system can be caused by numerous genetic defects and can result in a variety of metabolic and biochemical alterations. Consequently, OXPHOS deficiencies manifest as a broad clinical spectrum. Complex I, the biggest and most complicated enzyme complex of the OXPHOS system, has been subjected to thorough investigation in recent years. Significant progress has been made in the field of structure, composition, assembly, and pathology. Important gains in the understanding of the Goliath of the OXPHOS system are: exposing the electron transfer mechanism and solving the crystal structure of the peripheral arm, characterization of almost all subunits and some of their functions, and creating models to elucidate the assembly process with concomitant identification of assembly chaperones. Unravelling the intricate mechanisms underlying the functioning of this membrane-bound enzyme complex in health and disease will pave the way for developing adequate diagnostic procedures and advanced therapeutic treatment strategies. SSIEM and Springer, 2006 Janssen Rolf Nijmegen Centre for Mitochondrial Disorders, Laboratory of Paediatrics and Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands aut Nijtmans Leo Nijmegen Centre for Mitochondrial Disorders, Laboratory of Paediatrics and Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands aut Heuvel Lambert Nijmegen Centre for Mitochondrial Disorders, Laboratory of Paediatrics and Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands aut Smeitink Jan Nijmegen Centre for Mitochondrial Disorders, Laboratory of Paediatrics and Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/4(2006-08-01), 499-515 0141-8955 29:4<499 2006 29 10545 https://doi.org/10.1007/s10545-006-0362-4 text/html Onlinezugriff via DOI 1 review-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0362-4 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Janssen Rolf Nijmegen Centre for Mitochondrial Disorders, Laboratory of Paediatrics and Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Nijtmans Leo Nijmegen Centre for Mitochondrial Disorders, Laboratory of Paediatrics and Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Heuvel Lambert Nijmegen Centre for Mitochondrial Disorders, Laboratory of Paediatrics and Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Smeitink Jan Nijmegen Centre for Mitochondrial Disorders, Laboratory of Paediatrics and Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/4(2006-08-01), 499-515 0141-8955 29:4<499 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer