caa a22 4500 47578703X CHVBK 20180406123701.0 cr unu---uuuuu 170329e20001201xx s 000 0 eng 10.1007/PL00014408 doi (NATIONALLICENCE)springer-10.1007/PL00014408 Nuclear genes and oxidative phosphorylation disorders: a review [Elektronische Daten] [Jan A. M. Smeitink, Rob C. A. Sengers, Frans J. M. Trijbels, Lambert P. van den Heuvel] Knowledge concerning the approximately 70 human nuclear genes creating the essential building-blocks of the five multi-protein subunit complexes of the oxidative phosphorylation (OXPHOS) system has been expanded greatly in the past few years. However, knowledge concerning the numerous human genes involved in the regulation of transcription, translation, post-translational modification, mitochondrial signalling, import, quality control, folding and assembly of the OXPHOS system is still rather scanty. It may be expected that this scenario, by the application of direct (candidate gene identification by comparison between known genes in lower species and the human expressed sequence tag database) and indirect genetic strategies (the chromosome transfer technique, linkage analysis and positional cloning) will rapidly change. By now, a limited number of structural and non-structural nuclear gene defects have been found. Conclusion This review summarises the state of our current knowledge of nuclear gene mutations in oxidative phosphorylation disorders. Springer-Verlag Berlin Heidelberg, 2000 Key words Human pathology nationallicence Mitochondria nationallicence Nuclear genes nationallicence Oxidative phosphorylation nationallicence Smeitink Jan A. M. Nijmegen Centre for Mitochondrial Disorders, Department of Paediatrics, University Medical Centre Nijmegen, Geert Grooteplein 10, 6500 HB Nijmegen, The Netherlands e-mail: J.Smeitink@ckskg.azn.nl Tel.: +31-24-3614430; Fax: +31-24-3616428 Homepage: http://go.to/NCMD, NL aut Sengers Rob C. A. Nijmegen Centre for Mitochondrial Disorders, Department of Paediatrics, University Medical Centre Nijmegen, Geert Grooteplein 10, 6500 HB Nijmegen, The Netherlands e-mail: J.Smeitink@ckskg.azn.nl Tel.: +31-24-3614430; Fax: +31-24-3616428 Homepage: http://go.to/NCMD, NL aut Trijbels Frans J. M. Nijmegen Centre for Mitochondrial Disorders, Department of Paediatrics, University Medical Centre Nijmegen, Geert Grooteplein 10, 6500 HB Nijmegen, The Netherlands e-mail: J.Smeitink@ckskg.azn.nl Tel.: +31-24-3614430; Fax: +31-24-3616428 Homepage: http://go.to/NCMD, NL aut van den Heuvel Lambert P. Nijmegen Centre for Mitochondrial Disorders, Department of Paediatrics, University Medical Centre Nijmegen, Geert Grooteplein 10, 6500 HB Nijmegen, The Netherlands e-mail: J.Smeitink@ckskg.azn.nl Tel.: +31-24-3614430; Fax: +31-24-3616428 Homepage: http://go.to/NCMD, NL aut https://doi.org/10.1007/PL00014408 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/PL00014408 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Smeitink Jan A. M. Nijmegen Centre for Mitochondrial Disorders, Department of Paediatrics, University Medical Centre Nijmegen, Geert Grooteplein 10, 6500 HB Nijmegen, The Netherlands e-mail: J.Smeitink@ckskg.azn.nl Tel.: +31-24-3614430; Fax: +31-24-3616428 Homepage: http://go.to/NCMD, NL aut NATIONALLICENCE 700 1- Sengers Rob C. A. Nijmegen Centre for Mitochondrial Disorders, Department of Paediatrics, University Medical Centre Nijmegen, Geert Grooteplein 10, 6500 HB Nijmegen, The Netherlands e-mail: J.Smeitink@ckskg.azn.nl Tel.: +31-24-3614430; Fax: +31-24-3616428 Homepage: http://go.to/NCMD, NL aut NATIONALLICENCE 700 1- Trijbels Frans J. M. Nijmegen Centre for Mitochondrial Disorders, Department of Paediatrics, University Medical Centre Nijmegen, Geert Grooteplein 10, 6500 HB Nijmegen, The Netherlands e-mail: J.Smeitink@ckskg.azn.nl Tel.: +31-24-3614430; Fax: +31-24-3616428 Homepage: http://go.to/NCMD, NL aut NATIONALLICENCE 700 1- van den Heuvel Lambert P. Nijmegen Centre for Mitochondrial Disorders, Department of Paediatrics, University Medical Centre Nijmegen, Geert Grooteplein 10, 6500 HB Nijmegen, The Netherlands e-mail: J.Smeitink@ckskg.azn.nl Tel.: +31-24-3614430; Fax: +31-24-3616428 Homepage: http://go.to/NCMD, NL aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer