Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients
Tóm tắt
Từ khóa
Tài liệu tham khảo
Smeitink, 2006, Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders, Cell Metab., 3, 9, 10.1016/j.cmet.2005.12.001
Janssen, 2006, Mitochondrial complex I: structure, function and pathology, J. Inherit. Metab. Dis., 29, 499, 10.1007/s10545-006-0362-4
Carroll, 2003, Analysis of the subunit composition of complex I from bovine heart mitochondria, Mol. Cell. Proteomics, 2, 117, 10.1074/mcp.M300014-MCP200
Carroll, 2006, Bovine complex I is a complex of forty-five different subunits, J. Biol. Chem., 281, 32724, 10.1074/jbc.M607135200
Antonicka, 2003, Identification and characterization of a common set of complex I assembly intermediates in mitochondria from patients with complex I deficiency, J. Biol. Chem., 278, 43081, 10.1074/jbc.M304998200
Coenen, 2004, Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency, N. Engl. J. Med., 351, 2080, 10.1056/NEJMoa041878
Vogel, 2007, Identification of mitochondrial complex I assembly intermediates by tracing tagged NDUFS3 demonstrates the entry point of mitochondrial subunits, J. Biol. Chem., 282, 7582, 10.1074/jbc.M609410200
Friedrich, 1997, Modular evolution of the respiratory NADH:ubiquinone oxidoreductase and the origin of its modules, J. Theor. Biol., 187, 529, 10.1006/jtbi.1996.0387
Finel, 1998, Organization and evolution of structural elements within complex I, Biochim. Biophys. Acta, 1364, 112, 10.1016/S0005-2728(98)00022-X
Friedrich, 2000, The respiratory complex I of bacteria, archaea and eukarya and its module common with membrane-bound multisubunit hydrogenases, FEBS Lett., 479, 1, 10.1016/S0014-5793(00)01867-6
Mathiesen, 2003, The ‘antiporter module’ of respiratory chain complex I includes the MrpC/NuoK subunit—a revision of the modular evolution scheme, FEBS Lett., 549, 7, 10.1016/S0014-5793(03)00767-1
Ugalde, 2004, Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficiencies, Hum. Mol. Genet., 13, 2461, 10.1093/hmg/ddh262
Vogel, 2004, Complex I assembly: a puzzling problem, Curr. Opin. Neurol., 17, 179, 10.1097/00019052-200404000-00016
Tsuneoka, 2005, A novel Myc-target gene, mimitin, that is involved in cell proliferation of esophageal squamous cell carcinoma, J. Biol. Chem., 280, 19977, 10.1074/jbc.M501231200
Janssen, 2002, CIA30 complex I assembly factor: a candidate for human complex I deficiency?, Hum. Genet., 110, 264, 10.1007/s00439-001-0673-3
Vogel, 2005, Human mitochondrial complex I assembly is mediated by NDUFAF1, FEBS J., 272, 5317, 10.1111/j.1742-4658.2005.04928.x
Ogilvie, 2005, A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy, J. Clin. Invest., 115, 2784, 10.1172/JCI26020
C. Sugiana, C. Dunning, M. Lazarou, M. McKenzie, A. Connelly, J.M. Fletcher, D. Thorburn, M.T. Ryan, Mutations in NDUFAF1, encoding a complex I assembly factor, are a novel cause of mitochondrial disease, Eleventh International Congress of Human Genetics. Conference Proceeding, Brisbane, Australia. 6-8-2006.
Yi, 2005, Oxa1/Alb3/YidC system for insertion of membrane proteins in mitochondria, chloroplasts and bacteria, Mol. Membr. Biol., 22, 101, 10.1080/09687860500041718
Herrmann, 2005, Biogenesis of cytochrome oxidase-sophisticated assembly lines in the mitochondrial inner membrane, Gene, 354, 43, 10.1016/j.gene.2005.03.017
Pecina, 2004, Genetic defects of cytochrome c oxidase assembly, Physiol. Res., 53, S213, 10.33549/physiolres.930000.53.S213
Klement, 1995, Analysis of oxidative phosphorylation complexes in cultured human fibroblasts and amniocytes by blue-native-electrophoresis using mitoplasts isolated with the help of digitonin, Anal. Biochem., 231, 218, 10.1006/abio.1995.1523
Nijtmans, 2002, Blue native electrophoresis to study mitochondrial and other protein complexes, Methods, 26, 327, 10.1016/S1046-2023(02)00038-5
Ugalde, 2004, Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency, Hum. Mol. Genet., 13, 659, 10.1093/hmg/ddh071
Scacco, 2003, Pathological mutations of the human NDUFS4 gene of the 18-kDa (AQDQ) subunit of complex I affect the expression of the protein and the assembly and function of the complex, J. Biol. Chem., 278, 44161, 10.1074/jbc.M307615200
Loeffen, 2001, Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy, Ann. Neurol., 49, 195, 10.1002/1531-8249(20010201)49:2<195::AID-ANA39>3.0.CO;2-M
Triepels, 1999, Syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I, Ann. Neurol., 45, 787, 10.1002/1531-8249(199906)45:6<787::AID-ANA13>3.0.CO;2-6
Visch, 2006, Decreased agonist-stimulated mitochondrial ATP production caused by a pathological reduction in endoplasmic reticulum calcium content in human complex I deficiency, Biochim. Biophys. Acta, 1762, 115, 10.1016/j.bbadis.2005.09.001
Schuelke, 1999, Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy, Nat. Genet., 21, 260, 10.1038/6772
van den Heuvel, 1998, Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit, Am. J. Hum. Genet., 62, 262, 10.1086/301716