- NDUFS7
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NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial is an enzyme that in humans is encoded by the NDUFS7 gene.[1][2]
References
- ^ Hyslop SJ, Duncan AM, Pitkanen S, Robinson BH (Mar 1997). "Assignment of the PSST subunit gene of human mitochondrial complex I to chromosome 19p13". Genomics 37 (3): 375–80. doi:10.1006/geno.1996.0572. PMID 8938450.
- ^ "Entrez Gene: NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=374291.
Further reading
- Smeitink J, van den Heuvel L (1999). "Human mitochondrial complex I in health and disease". Am. J. Hum. Genet. 64 (6): 1505–10. doi:10.1086/302432. PMC 1377894. PMID 10330338. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1377894.
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Loeffen JL, Triepels RH, van den Heuvel LP, et al. (1999). "cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed". Biochem. Biophys. Res. Commun. 253 (2): 415–22. doi:10.1006/bbrc.1998.9786. PMID 9878551.
- Triepels RH, van den Heuvel LP, Loeffen JL, et al. (1999). "Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I". Ann. Neurol. 45 (6): 787–90. doi:10.1002/1531-8249(199906)45:6<787::AID-ANA13>3.0.CO;2-6. PMID 10360771.
- Triepels RH, Hanson BJ, van den Heuvel LP, et al. (2001). "Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patterns". J. Biol. Chem. 276 (12): 8892–7. doi:10.1074/jbc.M009903200. PMID 11112787.
- Schuler F, Casida JE (2001). "Functional coupling of PSST and ND1 subunits in NADH:ubiquinone oxidoreductase established by photoaffinity labeling". Biochim. Biophys. Acta 1506 (1): 79–87. doi:10.1016/S0005-2728(01)00183-9. PMID 11418099.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Ugalde C, Janssen RJ, van den Heuvel LP, et al. (2004). "Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency". Hum. Mol. Genet. 13 (6): 659–67. doi:10.1093/hmg/ddh071. PMID 14749350.
- Ricci JE, Muñoz-Pinedo C, Fitzgerald P, et al. (2004). "Disruption of mitochondrial function during apoptosis is mediated by caspase cleavage of the p75 subunit of complex I of the electron transport chain". Cell 117 (6): 773–86. doi:10.1016/j.cell.2004.05.008. PMID 15186778.
- Lebon S, Rodriguez D, Bridoux D, et al. (2007). "A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndrome". Mol. Genet. Metab. 90 (4): 379–82. doi:10.1016/j.ymgme.2006.12.007. PMID 17275378.
- Lebon S, Minai L, Chretien D, et al. (2007). "A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome". Mol. Genet. Metab. 92 (1–2): 104–8. doi:10.1016/j.ymgme.2007.05.010. PMID 17604671.
Categories:- Human proteins
- Chromosome 19 gene stubs
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