{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,6]],"date-time":"2026-11-06T02:34:46Z","timestamp":1793932486904,"version":"4.8.0"},"publisher-location":"New York, NY","reference-count":186,"publisher":"Springer New York","isbn-type":[{"value":"9781461435723","type":"print"},{"value":"9781461435730","type":"electronic"}],"license":[{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2012]]},"DOI":"10.1007\/978-1-4614-3573-0_4","type":"book-chapter","created":{"date-parts":[[2012,6,22]],"date-time":"2012-06-22T22:55:11Z","timestamp":1340405711000},"page":"65-106","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":131,"title":["Assembly Factors of Human Mitochondrial Respiratory Chain Complexes: Physiology and Pathophysiology"],"prefix":"10.1007","author":[{"given":"Daniele","family":"Ghezzi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimo","family":"Zeviani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2012,5,11]]},"reference":[{"key":"4_CR185","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1016\/S1097-2765(04)00124-8","volume":"13","author":"R Ac\u00edn-P\u00e9rez","year":"2004","unstructured":"Ac\u00edn-P\u00e9rez R, Bayona-Bafaluy MP, Fern\u00e1ndez-Silva P et al (2004) Respiratory complex III is required to maintain complex I in mammalian mitochondria. Mol Cell 13:805\u2013815","journal-title":"Mol Cell"},{"key":"4_CR1","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1016\/j.molcel.2008.10.021","volume":"32","author":"R Ac\u00edn-P\u00e9rez","year":"2008","unstructured":"Ac\u00edn-P\u00e9rez R, Fern\u00e1ndez-Silva P, Peleato ML, P\u00e9rez-Martos A, Enriquez JA (2008) Respiratory active mitochondrial supercomplexes. Mol Cell 32:529\u2013539","journal-title":"Mol Cell"},{"key":"4_CR2","doi-asserted-by":"crossref","first-page":"4986","DOI":"10.1073\/pnas.87.13.4986","volume":"87","author":"SH Ackerman","year":"1990","unstructured":"Ackerman SH, Tzagoloff A (1990) Identification of two nuclear genes (ATP11, ATP12) required for assembly of the yeast F1-ATPase. Proc Natl Acad Sci USA 87:4986\u20134990","journal-title":"Proc Natl Acad Sci USA"},{"key":"4_CR3","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1038\/24094","volume":"396","author":"SG Andersson","year":"1998","unstructured":"Andersson SG, Zomorodipour A, Andersson JO et al (1998) The genome sequence of Rickettsia prowazekii and the origin of mitochondria. Nature 396:133\u2013140","journal-title":"Nature"},{"key":"4_CR4","doi-asserted-by":"crossref","first-page":"2693","DOI":"10.1093\/hmg\/ddg284","volume":"12","author":"H Antonicka","year":"2003","unstructured":"Antonicka H, Leary SC, Guercin GH et al (2003) Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency. Hum Mol Genet 12:2693\u20132702","journal-title":"Hum Mol Genet"},{"key":"4_CR5","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1111\/j.1432-1033.1997.t01-1-00350.x","volume":"249","author":"S Arnold","year":"1997","unstructured":"Arnold S, Kadenbach B (1997) Cell respiration is controlled by ATP, an allosteric inhibitor of cytochrome-c oxidase. Eur J Biochem 249:350\u2013354","journal-title":"Eur J Biochem"},{"key":"4_CR6","doi-asserted-by":"crossref","first-page":"7170","DOI":"10.1093\/emboj\/17.24.7170","volume":"17","author":"I Arnold","year":"1998","unstructured":"Arnold I, Pfeiffer K, Neupert W, Stuart RA, Sch\u00e4gger H (1998) Yeast mitochondrial F1F0-ATP synthase exists as a dimer: identification of three dimer-specific subunits. EMBO J 17:7170\u20137178","journal-title":"EMBO J"},{"key":"4_CR7","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1016\/j.ymgme.2007.11.013","volume":"94","author":"F Barghuti","year":"2008","unstructured":"Barghuti F, Elian K, Gomori JM, Shaag A, Edvardson S, Saada A, Elpeleg O (2008) The unique neuroradiology of complex I deficiency due to NDUFA12L defect. Mol Genet Metab 94:78\u201382","journal-title":"Mol Genet Metab"},{"key":"4_CR8","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/j.bbamcr.2008.05.003","volume":"1793","author":"A Barrientos","year":"2009","unstructured":"Barrientos A, Gouget K, Horn D, Soto IC, Fontanesi F (2009) Suppression mechanisms of COX assembly defects in yeast and human: insights into the COX assembly process. Biochim Biophys Acta 1793:97\u2013107","journal-title":"Biochim Biophys Acta"},{"key":"4_CR9","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1023\/A:1005568609936","volume":"22","author":"PG Barth","year":"1999","unstructured":"Barth PG, Wanders RJ, Vreken P, Janssen EA, Lam J, Baas F (1999) X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060). J Inherit Metab Dis 22:555\u2013567","journal-title":"J Inherit Metab Dis"},{"key":"4_CR10","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1016\/j.gde.2010.02.008","volume":"20","author":"JP Bayley","year":"2010","unstructured":"Bayley JP, Devilee P (2010) Warburg tumours and the mechanisms of mitochondrial tumour suppressor genes. Barking up the right tree? Curr Opin Genet Dev 20:324\u2013329","journal-title":"Curr Opin Genet Dev"},{"key":"4_CR11","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1016\/S1470-2045(10)70007-3","volume":"11","author":"JP Bayley","year":"2010","unstructured":"Bayley JP, Kunst HP, Cascon A et al (2010) SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. Lancet Oncol 11:366\u2013372","journal-title":"Lancet Oncol"},{"key":"4_CR12","doi-asserted-by":"crossref","first-page":"12386","DOI":"10.1074\/jbc.M311879200","volume":"279","author":"G Bell\u00ed","year":"2004","unstructured":"Bell\u00ed G, Molina MM, Garc\u00eda-Mart\u00ednez J, P\u00e9rez-Ort\u00edn JE, Herrero E (2004) Saccharomyces cerevisiae glutaredoxin 5-deficient cells subjected to continuous oxidizing conditions are affected in the expression of specific sets of genes. J Biol Chem 279:12386\u201312395","journal-title":"J Biol Chem"},{"key":"4_CR13","doi-asserted-by":"crossref","first-page":"49732","DOI":"10.1074\/jbc.M308881200","volume":"278","author":"DG Bernard","year":"2003","unstructured":"Bernard DG, Gabilly ST, Dujardin G, Merchant S, Hamel PP (2003) Overlapping specificities of the mitochondrial cytochrome c and c1 heme lyases. J Biol Chem 278:49732\u201349742","journal-title":"J Biol Chem"},{"key":"4_CR14","doi-asserted-by":"crossref","first-page":"36562","DOI":"10.1074\/jbc.M405135200","volume":"279","author":"C Bianchi","year":"2004","unstructured":"Bianchi C, Genova ML, Parenti Castelli G, Lenaz G (2004) The mitochondrial respiratory chain is partially organized in a supercomplex assembly: kinetic evidence using flux control analysis. J Biol Chem 279:36562\u201336569","journal-title":"J Biol Chem"},{"key":"4_CR15","doi-asserted-by":"crossref","first-page":"4334","DOI":"10.1073\/pnas.73.12.4334","volume":"73","author":"W Birchmeier","year":"1976","unstructured":"Birchmeier W, Kohler CE, Schatz G (1976) Interaction of integral and peripheral membrane proteins: affinity labeling of yeast cytochrome oxidase by modified yeast cytochrome c. Proc Natl Acad Sci USA 73:4334\u20134338","journal-title":"Proc Natl Acad Sci USA"},{"key":"4_CR16","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1016\/0076-6879(67)10041-4","volume":"10","author":"PV Blair","year":"1967","unstructured":"Blair PV (1967) Preparation and properties of repeating units of electron transfer. Methods Enzymol 10:208\u2013212","journal-title":"Methods Enzymol"},{"key":"4_CR17","doi-asserted-by":"crossref","first-page":"932","DOI":"10.1002\/(SICI)1521-1878(199911)21:11<932::AID-BIES5>3.0.CO;2-N","volume":"21","author":"GL Blatch","year":"1999","unstructured":"Blatch GL, Lassle M (1999) The tetratricopeptide repeat: a structural motif mediating protein-protein interactions. Bioessays 21:932\u2013939","journal-title":"Bioessays"},{"key":"4_CR18","doi-asserted-by":"crossref","first-page":"11978","DOI":"10.1073\/pnas.91.25.11978","volume":"91","author":"N Bonnefoy","year":"1994","unstructured":"Bonnefoy N, Kermorgant M, Groudinsky O, Minet M, Slonimski PP, Dujardin G (1994) Cloning of a human gene involved in cytochrome oxidase assembly by functional complementation of an oxa1- mutation in Saccharomyces cerevisiae. Proc Natl Acad Sci USA 91:11978\u201311982","journal-title":"Proc Natl Acad Sci USA"},{"key":"4_CR19","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1016\/0005-2728(93)90063-L","volume":"1140","author":"PD Boyer","year":"1993","unstructured":"Boyer PD (1993) The binding change mechanism for ATP synthase\u2013some probabilities and possibilities. Biochim Biophys Acta 1140:215\u2013250","journal-title":"Biochim Biophys Acta"},{"key":"4_CR20","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1146\/annurev.biochem.66.1.717","volume":"66","author":"PD Boyer","year":"1997","unstructured":"Boyer PD (1997) The ATP synthase\u2014a splendid molecular machine. Annu Rev Biochem 66:717\u2013749","journal-title":"Annu Rev Biochem"},{"key":"4_CR21","doi-asserted-by":"crossref","first-page":"8387","DOI":"10.1016\/S0021-9258(18)52883-0","volume":"268","author":"U Brandt","year":"1993","unstructured":"Brandt U, Yu L, Yu CA, Trumpower BL (1993) The mitochondrial targeting presequence of the Rieske iron\u2013sulfur protein is processed in a single step after insertion into the cytochrome bc1 complex in mammals and retained as a subunit in the complex. J Biol Chem 268:8387\u20138390","journal-title":"J Biol Chem"},{"key":"4_CR22","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1016\/j.bbabio.2004.09.006","volume":"1659","author":"M Bugiani","year":"2004","unstructured":"Bugiani M, Invernizzi F, Alberio S et al (2004) Clinical and molecular findings in children with complex I deficiency. Biochim Biophys Acta 1659:136\u2013147","journal-title":"Biochim Biophys Acta"},{"key":"4_CR23","doi-asserted-by":"crossref","first-page":"25735","DOI":"10.1074\/jbc.M109.040295","volume":"284","author":"FA Bundschuh","year":"2009","unstructured":"Bundschuh FA, Hannappel A, Anderka O et al (2009) Surf1, associated with Leigh syndrome in humans, is a heme-binding protein in bacterial oxidase biogenesis. J Biol Chem 284:25735\u201325741","journal-title":"J Biol Chem"},{"key":"4_CR24","doi-asserted-by":"crossref","first-page":"1736","DOI":"10.1038\/emboj.2008.98","volume":"27","author":"K Bych","year":"2008","unstructured":"Bych K, Kerscher S, Netz DJA, Pierik AJ, Zwicker K, Huynen MA, Lill R, Brandt U, Balk J (2008) Ind1 is requie for effective complex I assembly. EMBO J 27:1736\u20131746","journal-title":"EMBO J"},{"key":"4_CR25","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1038\/ng.659","volume":"42","author":"SE Calvo","year":"2010","unstructured":"Calvo SE, Tucker EJ, Compton AG et al (2010) High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. Nat Genet 42:851\u2013858","journal-title":"Nat Genet"},{"key":"4_CR26","doi-asserted-by":"crossref","first-page":"1353","DOI":"10.1182\/blood-2007-02-072520","volume":"110","author":"C Camaschella","year":"2007","unstructured":"Camaschella C, Campanella A, DeFalco L et al (2007) The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload. Blood 110:1353\u20131358","journal-title":"Blood"},{"key":"4_CR27","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1016\/j.mito.2010.09.008","volume":"11","author":"JM Cameron","year":"2011","unstructured":"Cameron JM, Levandovskiy V, Mackay N et al (2011a) Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization. Mitochondrion 11:191\u2013199","journal-title":"Mitochondrion"},{"key":"4_CR28","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1016\/j.ajhg.2011.08.011","volume":"89","author":"JM Cameron","year":"2011","unstructured":"Cameron JM, Janer A, Levandovskiy V et al (2011b) Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes. Am J Hum Genet 89:486\u2013495","journal-title":"Am J Hum Genet"},{"key":"4_CR29","doi-asserted-by":"crossref","first-page":"1423","DOI":"10.1126\/science.271.5254.1423","volume":"271","author":"V Campuzano","year":"1996","unstructured":"Campuzano V, Montermini L, Molt\u00f2 MD et al (1996) Friedreich\u2019s ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271:1423\u20131427","journal-title":"Science"},{"key":"4_CR30","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1016\/0304-4157(82)90009-0","volume":"694","author":"RA Capaldi","year":"1982","unstructured":"Capaldi RA (1982) Arrangement of proteins in the mitochondrial inner membrane. Biochim Biophys Acta 694:291\u2013306","journal-title":"Biochim Biophys Acta"},{"key":"4_CR31","doi-asserted-by":"crossref","first-page":"32724","DOI":"10.1074\/jbc.M607135200","volume":"281","author":"J Carrol","year":"2006","unstructured":"Carrol J, Fearnley IM, Skehel JM et al (2006) Bovine complex I is a complex of 45 different subunits. J Biol Chem 281:32724\u201332727","journal-title":"J Biol Chem"},{"key":"4_CR32","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1038\/176250a0","volume":"176","author":"B Chance","year":"1955","unstructured":"Chance B, Williams GR (1955) A method for the localization of sites for oxidative phosphorylation. Nature 176:250\u2013254","journal-title":"Nature"},{"key":"4_CR33","doi-asserted-by":"crossref","first-page":"1288","DOI":"10.1038\/ng.246","volume":"40","author":"A Cizkova","year":"2008","unstructured":"Cizkova A, Stranecky V, Mayr JA et al (2008) TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. Nat Genet 40:1288\u20131290","journal-title":"Nat Genet"},{"key":"4_CR34","doi-asserted-by":"crossref","first-page":"1091","DOI":"10.1007\/s10545-005-4483-y","volume":"28","author":"MJ Coenen","year":"2005","unstructured":"Coenen MJ, Smeitink JA, Smeets R, Trijbels FJ, van den Heuvel LP (2005) Mutation detection in four candidate genes (OXA1L, MRS2L, YME1L and MIPEP) for combined deficiencies in the oxidative phosphorylation system. J Inherit Metab Dis 28:1091\u20131097","journal-title":"J Inherit Metab Dis"},{"key":"4_CR35","doi-asserted-by":"crossref","first-page":"12640","DOI":"10.1021\/bi960969t","volume":"35","author":"IR Collinson","year":"1996","unstructured":"Collinson IR, Skehel JM, Fearnley IM, Runswick MJ, Walker JE (1996) The F1F0-ATPase complex from bovine heart mitochondria: the molar ratio of the subunits in the stalk region linking the F1 and F0 domains. Biochemistry 35:12640\u201312646","journal-title":"Biochemistry"},{"key":"4_CR36","doi-asserted-by":"crossref","first-page":"1097","DOI":"10.1016\/j.bbadis.2009.03.002","volume":"1792","author":"LM Cree","year":"2009","unstructured":"Cree LM, Samuels DC, Chinnery PF (2009) The inheritance of pathogenic mitochondrial DNA mutations. Biochim Biophys Acta 1792:1097\u20131102","journal-title":"Biochim Biophys Acta"},{"key":"4_CR37","doi-asserted-by":"crossref","first-page":"5226","DOI":"10.1093\/emboj\/18.19.5226","volume":"18","author":"CM Cruciat","year":"1999","unstructured":"Cruciat CM, Hell K, F\u00f6lsch H, Neupert W, Stuart RA (1999) Bcs1p, an AAA-family member, is a chaperone for the assembly of the cytochrome bc(1) complex. EMBO J 18:5226\u20135233","journal-title":"EMBO J"},{"key":"4_CR38","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/0014-5793(84)80058-7","volume":"166","author":"VM Darley-Usmar","year":"1984","unstructured":"Darley-Usmar VM, Georgevich G, Capaldi RA (1984) Reaction of thionitrobenzoate-modified yeast cytochrome c with monomeric and dimeric forms of beef heart cytochrome c oxidase. FEBS Lett 166:131\u2013135","journal-title":"FEBS Lett"},{"key":"4_CR39","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1038\/ng706","volume":"29","author":"P De Lonlay","year":"2001","unstructured":"De Lonlay P, Valnot I, Barrientos A et al (2001) A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nat Genet 29:57\u201360","journal-title":"Nat Genet"},{"key":"4_CR40","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1136\/jmg.2003.012047","volume":"41","author":"L De Meirleir","year":"2004","unstructured":"De Meirleir L, Seneca S, Lissens W et al (2004) Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12. J Med Genet 41:120\u2013124","journal-title":"J Med Genet"},{"key":"4_CR41","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1093\/hmg\/ddl477","volume":"16","author":"C Dell\u2019agnello","year":"2007","unstructured":"Dell\u2019agnello C, Leo S, Agostino A, Szabadkai G et al (2007) Increased longevity and refractoriness to Ca(2+)-dependent neurodegeneration in Surf1 knockout mice. Hum Mol Genet 16:431\u2013444","journal-title":"Hum Mol Genet"},{"key":"4_CR42","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S1937-6448(08)00601-1","volume":"267","author":"RJ Devenish","year":"2008","unstructured":"Devenish RJ, Prescott M, Rodgers AJ (2008) The structure and function of mitochondrial F1F0-ATP synthases. Int Rev Cell Mol Biol 267:1\u201358","journal-title":"Int Rev Cell Mol Biol"},{"key":"4_CR186","doi-asserted-by":"crossref","first-page":"4872","DOI":"10.1128\/MCB.01767-05","volume":"26","author":"F Diaz","year":"2006","unstructured":"Diaz F, Fukui H, Garcia S, Moraes CT (2006) Cytochrome c oxidase is required for the assembly\/stability of respiratory complex I in mouse fibroblasts. Mol Cell Biol 26:4872\u20134881","journal-title":"Mol Cell Biol"},{"key":"4_CR43","doi-asserted-by":"crossref","first-page":"32042","DOI":"10.1074\/jbc.273.48.32042","volume":"273","author":"E Dibrov","year":"1998","unstructured":"Dibrov E, Fu S, Lemire BD (1998) The Saccharomyces cerevisiae TCM62 gene encodes a chaperone necessary for the assembly of the mitochondrial succinate dehydrogenase (complex II). J Biol Chem 273:32042","journal-title":"J Biol Chem"},{"key":"4_CR44","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1080\/07853890510007368","volume":"37","author":"S DiMauro","year":"2005","unstructured":"DiMauro S, Davidzon G (2005) Mitochondrial DNA and disease. Ann Med 37:222\u2013232","journal-title":"Ann Med"},{"key":"4_CR45","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1093\/brain\/awp058","volume":"132","author":"F Distelmaier","year":"2009","unstructured":"Distelmaier F, Koopman WJ, van den Heuvel LP et al (2009) Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. Brain 132:833\u2013842","journal-title":"Brain"},{"key":"4_CR46","doi-asserted-by":"crossref","first-page":"3227","DOI":"10.1038\/sj.emboj.7601748","volume":"1126","author":"CJ Dunning","year":"2007","unstructured":"Dunning CJ, McKenzie M, Sugiana C et al (2007) Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease. EMBO J 1126:3227\u20133237","journal-title":"EMBO J"},{"key":"4_CR47","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1038\/nature09066","volume":"465","author":"RG Efremov","year":"2010","unstructured":"Efremov RG, Baradaran R, Sazanov LA (2010) The architecture of respiratory complex I. Nature 465:441\u2013445","journal-title":"Nature"},{"key":"4_CR48","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/0925-4439(95)00028-3","volume":"1271","author":"L Ernster","year":"1995","unstructured":"Ernster L, Dallner G (1995) Biochemical, physiological and medical aspects of ubiquinone function. Biochim Biophys Acta 1271:195\u2013204","journal-title":"Biochim Biophys Acta"},{"key":"4_CR49","doi-asserted-by":"crossref","first-page":"4837","DOI":"10.1093\/hmg\/ddq414","volume":"19","author":"E Fassone","year":"2010","unstructured":"Fassone E, Duncan AJ, Taanman JW et al (2010) FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile onset mitochondrial encephalopathy. Hum Mol Genet 19:4837\u20134847","journal-title":"Hum Mol Genet"},{"key":"4_CR50","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1186\/1471-2407-10-149","volume":"10","author":"RG Feichtinger","year":"2010","unstructured":"Feichtinger RG, Zimmermann F, Mayr JA et al (2010) Low aerobic mitochondrial energy metabolism in poorly- or undifferentiated neuroblastoma. BMC Cancer 10:149","journal-title":"BMC Cancer"},{"key":"4_CR51","doi-asserted-by":"crossref","first-page":"1241","DOI":"10.1093\/hmg\/ddm072","volume":"16","author":"E Fernandez-Vizarra","year":"2007","unstructured":"Fernandez-Vizarra E, Bugiani M, Goffrini P et al (2007) Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. Hum Mol Genet 16:1241\u20131252","journal-title":"Hum Mol Genet"},{"key":"4_CR52","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1016\/j.bbamcr.2008.05.028","volume":"1793","author":"E Fernandez-Vizarra","year":"2009","unstructured":"Fernandez-Vizarra E, Tiranti V, Zeviani M (2009) Assembly of the oxidative phosphorylation system in humans: what we have learned by studying its defects. Biochim Biophys Acta 1793:200\u2013211","journal-title":"Biochim Biophys Acta"},{"key":"4_CR53","doi-asserted-by":"crossref","first-page":"C1129","DOI":"10.1152\/ajpcell.00233.2006","volume":"291","author":"F Fontanesi","year":"2006","unstructured":"Fontanesi F, Soto IC, Horn D, Barrientos A (2006) Assembly of mitochondrial cytochrome c-oxidase, a complicated and highly regulated cellular process. Am J Physiol Cell Physiol 291:C1129\u2013C1147","journal-title":"Am J Physiol Cell Physiol"},{"key":"4_CR54","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1016\/S0021-9258(19)84019-X","volume":"238","author":"LR Fowler","year":"1963","unstructured":"Fowler LR, Richardson SH (1963) Studies on the electron transfer system. On the mechanism of reconstitution of the mitochondrial electron transfer system. J Biol Chem 238:456\u2013463","journal-title":"J Biol Chem"},{"key":"4_CR55","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1136\/jmg.2009.067553","volume":"47","author":"M Gerards","year":"2010","unstructured":"Gerards M, Sluiter W, van den Bosch BJ et al (2010) Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome. J Med Genet 47:507\u2013512","journal-title":"J Med Genet"},{"key":"4_CR56","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1093\/brain\/awq273","volume":"134","author":"M Gerards","year":"2011","unstructured":"Gerards M, van den Bosch BJ, Danhauser K et al (2011) Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene. Brain 134:210\u2013219","journal-title":"Brain"},{"key":"4_CR57","doi-asserted-by":"crossref","unstructured":"Ghezzi D, Zeviani M (2011) Mitochondrial disorders: nuclear gene mutations. In: Encyclopedia of Life Sciences (ELS). John Wiley & Sons, Ltd: Chichester. DOI: 10.1002\/9780470015902.","DOI":"10.1002\/9780470015902.a0005540.pub2"},{"key":"4_CR58","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1038\/ng.378","volume":"41","author":"D Ghezzi","year":"2009","unstructured":"Ghezzi D, Goffrini P, Uziel G et al (2009) SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. Nat Genet 41:654\u2013656","journal-title":"Nat Genet"},{"key":"4_CR59","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1038\/ng.761","volume":"43","author":"D Ghezzi","year":"2011","unstructured":"Ghezzi D, Arzuffi P, Zordan M et al (2011) Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. Nat Genet 43:259\u2013263","journal-title":"Nat Genet"},{"key":"4_CR60","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1016\/S0014-5793(03)00633-1","volume":"546","author":"RW Gilkerson","year":"2003","unstructured":"Gilkerson RW, Selker JM, Capaldi RA (2003) The cristal membrane of mitochondria is the principal site of oxidative phosphorylation. FEBS Lett 546:355\u2013358","journal-title":"FEBS Lett"},{"key":"4_CR61","doi-asserted-by":"crossref","first-page":"2091","DOI":"10.1093\/hmg\/ddi214","volume":"14","author":"P Gonz\u00e1lez-Cabo","year":"2005","unstructured":"Gonz\u00e1lez-Cabo P, V\u00e1zquez-Manrique RP, Garc\u00eda-Gimeno MA, Sanz P, Palau F (2005) Frataxin interacts functionally with mitochondrial electron transport chain proteins. Hum Mol Genet 14:2091\u20132098","journal-title":"Hum Mol Genet"},{"key":"4_CR62","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1016\/S0167-4781(97)00025-0","volume":"1352","author":"LI Grossman","year":"1997","unstructured":"Grossman LI, Lomax MI (1997) Nuclear genes for cytochrome c oxidase. Biochim Biophys Acta 1352:174\u2013192","journal-title":"Biochim Biophys Acta"},{"key":"4_CR63","doi-asserted-by":"crossref","first-page":"1131","DOI":"10.1038\/ng.706","volume":"42","author":"TB Haack","year":"2010","unstructured":"Haack TB, Danhauser K, Haberberger B et al (2010) Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Nat Genet 42:1131\u20131134","journal-title":"Nat Genet"},{"key":"4_CR64","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1007\/BF00743010","volume":"18","author":"CR Hackenbrock","year":"1986","unstructured":"Hackenbrock CR, Chazotte B, Gupte SS (1986) The random collision model and a critical assessment of diffusion and collision in mitochondrial electron transport. J Bioenerg Biomembr 18:331\u2013368","journal-title":"J Bioenerg Biomembr"},{"key":"4_CR65","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/S0005-2728(97)00019-4","volume":"1320","author":"C H\u00e4gerh\u00e4ll","year":"1997","unstructured":"H\u00e4gerh\u00e4ll C (1997) Succinate: quinone oxidoreductases. Variations on a conserved theme. Biochim Biophys Acta 1320:107\u2013141","journal-title":"Biochim Biophys Acta"},{"key":"4_CR66","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/0014-5793(96)00529-7","volume":"389","author":"C H\u00e4gerh\u00e4ll","year":"1997","unstructured":"H\u00e4gerh\u00e4ll C, Hederstedt L (1997) A structural model for the membrane-integral domain of succinate: quinone oxidoreductases. FEBS Lett 389:25","journal-title":"FEBS Lett"},{"key":"4_CR67","doi-asserted-by":"crossref","first-page":"1139","DOI":"10.1126\/science.1175689","volume":"28","author":"HX Hao","year":"2009","unstructured":"Hao HX, Khalimonchuk O, Schraders M et al (2009) SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma. Science 28:1139\u20131142","journal-title":"Science"},{"key":"4_CR68","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/S0005-2728(01)00231-6","volume":"1553","author":"L Hederstedt","year":"2002","unstructured":"Hederstedt L (2002) Succinate:quinone oxidoreductase in the bacteria Paracoccus denitrificans and Bacillus subtilis. Biochim Biophys Acta 1553:74\u201383","journal-title":"Biochim Biophys Acta"},{"key":"4_CR69","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1056\/NEJMoa055262","volume":"356","author":"JT Hinson","year":"2007","unstructured":"Hinson JT, Fantin VR, Schonberger J et al (2007) Missense mutations in the BCS1L gene as a cause of the Bjornstad syndrome. N Engl J Med 356:809\u2013819","journal-title":"N Engl J Med"},{"key":"4_CR70","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1136\/adc.2009.168096","volume":"95","author":"T Honz\u00edk","year":"2010","unstructured":"Honz\u00edk T, Tesarov\u00e1 M, Mayr JA et al (2010) Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation. J Arch Dis Child 95:296\u2013301","journal-title":"J Arch Dis Child"},{"key":"4_CR71","doi-asserted-by":"crossref","first-page":"1967","DOI":"10.1093\/hmg\/8.11.1967","volume":"8","author":"J Houstek","year":"1999","unstructured":"Houstek J, Klement P, Floryk D et al (1999) A novel deficiency of mitochondrial ATPase of nuclear origin. Hum Mol Genet 8:1967\u20131974","journal-title":"Hum Mol Genet"},{"key":"4_CR72","doi-asserted-by":"crossref","first-page":"1400","DOI":"10.1016\/j.bbabio.2006.04.006","volume":"1757","author":"J Houstek","year":"2006","unstructured":"Houstek J, Pickova A, Vojtiskova A, Mracek T, Pecina P, Jesina P (2006) Mitochondrial diseases and genetic defects of ATP synthase. Biochim Biophys Acta 1757:1400\u20131405","journal-title":"Biochim Biophys Acta"},{"key":"4_CR73","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1016\/j.bbabio.2008.11.013","volume":"1787","author":"J Houstek","year":"2009","unstructured":"Houstek J, Kmoch S, Zeman J (2009) TMEM70 protein \u2013 a novel ancillary factor of mammalian ATP synthase. Biochim Biophys Acta 1787:529\u2013532","journal-title":"Biochim Biophys Acta"},{"key":"4_CR74","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1016\/j.ajhg.2011.03.002","volume":"88","author":"M Huigsloot","year":"2011","unstructured":"Huigsloot M, Nijtmans LG, Szklarczyk R et al (2011) A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy. Am J Hum Genet 88:488\u2013493","journal-title":"Am J Hum Genet"},{"key":"4_CR75","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1126\/science.1191046","volume":"329","author":"C Hunte","year":"2010","unstructured":"Hunte C, Zickermann V, Brandt U (2010) Functional modules and structural basis of conformational coupling in mitochondrial complex I. Science 329:448\u2013451","journal-title":"Science"},{"key":"4_CR76","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1016\/j.febslet.2004.11.111","volume":"579","author":"MA Huynen","year":"2005","unstructured":"Huynen MA, Spronk CA, Gabald\u00f3n T, Snel B (2005) Combining data from genomes, Y2H and 3D structure indicates that BolA is a reductase interacting with a glutaredoxin. FEBS Lett 579:591\u2013596","journal-title":"FEBS Lett"},{"key":"4_CR77","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1126\/science.281.5373.64","volume":"281","author":"S Iwata","year":"1998","unstructured":"Iwata S, Lee JW, Okada K et al (1998) Complete structure of the 11-subunit bovine mitochondrial cytochrome bc1 complex. Science 281:64\u201371","journal-title":"Science"},{"key":"4_CR78","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1007\/s10545-006-0362-4","volume":"29","author":"RJ Janssen","year":"2006","unstructured":"Janssen RJ, Nijtmans LG, van den Heuvel LP, Smeitink JA (2006) Mitochondrial complex I: structure, function and pathology. J Inherit Metab Dis 29:499\u2013515","journal-title":"J Inherit Metab Dis"},{"key":"4_CR79","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1146\/annurev.biochem.73.011303.073706","volume":"73","author":"X Jiang","year":"2004","unstructured":"Jiang X, Wang X (2004) Cytochrome c-mediated apoptosis. Annu Rev Biochem 73:87\u2013106","journal-title":"Annu Rev Biochem"},{"key":"4_CR80","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1136\/jmg.2007.052084","volume":"45","author":"A Jonckheere","year":"2008","unstructured":"Jonckheere A, Hogeveen M, Nijtmans L et al (2008) A novel mitochondrial ATP8 (MT-ATP8) gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy. J Med Genet 45:129\u2013133","journal-title":"J Med Genet"},{"key":"4_CR81","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1016\/j.pediatrneurol.2009.10.004","volume":"42","author":"K Joost","year":"2010","unstructured":"Joost K, Rodenburg R, Piirsoo A et al (2010) A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy. Pediatr Neurol 42:227\u2013230","journal-title":"Pediatr Neurol"},{"key":"4_CR82","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1016\/j.bbrc.2010.01.051","volume":"392","author":"KD Kim","year":"2010","unstructured":"Kim KD, Chung WH, Kim HJ, Lee KC, Roe JH (2010) Monothiol glutaredoxin Grx5 interacts with Fe-S scaffold proteins Isa1 and Isa2 and supports Fe-S assembly and DNA integrity in mitochondria of fission yeast. Biochem Biophys Res Commun 392:467\u2013472","journal-title":"Biochem Biophys Res Commun"},{"key":"4_CR83","doi-asserted-by":"crossref","first-page":"12305","DOI":"10.1074\/jbc.C200703200","volume":"278","author":"YH Ko","year":"2003","unstructured":"Ko YH, Delannoy M, Hullihen J, Chiu W, Pedersen PL (2003) Mitochondrial ATP synthasome. Cristae-enriched membranes and a multiwell detergent screening assay yield dispersed single complexes containing the ATP synthase and carriers for Pi and ADP\/ATP. J Biol Chem 278:12305\u201312309","journal-title":"J Biol Chem"},{"key":"4_CR84","doi-asserted-by":"crossref","first-page":"2170","DOI":"10.1093\/brain\/awp152","volume":"132","author":"G Kollberg","year":"2009","unstructured":"Kollberg G, Tulinius M, Melberg A et al (2009) Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy. Brain 132:2170\u20132179","journal-title":"Brain"},{"key":"4_CR85","doi-asserted-by":"crossref","first-page":"1431","DOI":"10.1089\/ars.2009.2743","volume":"12","author":"WJ Koopman","year":"2010","unstructured":"Koopman WJ, Nijtmans LG, Dieteren CE et al (2010) Mammalian mitochondrial complex I: biogenesis, regulation and reactive oxygen species generation. Antioxid Redox Signal 12:1431\u20131470","journal-title":"Antioxid Redox Signal"},{"key":"4_CR86","doi-asserted-by":"crossref","first-page":"26453","DOI":"10.1074\/jbc.M402756200","volume":"279","author":"F Krause","year":"2004","unstructured":"Krause F, Scheckhuber CQ, Werner A, Rexroth S, Reifschneider NH, Dencher NA, Osiewacz HD (2004) Supramolecular organization of cytochrome c oxidaseand alternative oxidase-dependent respiratory chains in the filamentous fungus Podospora anserine. J Biol Chem 279:26453\u201326461","journal-title":"J Biol Chem"},{"key":"4_CR87","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1016\/j.bbrc.2005.02.010","volume":"329","author":"F Krause","year":"2005","unstructured":"Krause F, Reifschneider NH, Goto S, Dencher NA (2005) Active oligomeric ATP synthases in mammalian mitochondria. Biochem Biophys Res Commun 329:583\u2013590","journal-title":"Biochem Biophys Res Commun"},{"key":"4_CR88","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1006\/jmbi.1998.2114","volume":"283","author":"R Kuffner","year":"1998","unstructured":"Kuffner R, Rohr A, Schmiede A, Krull C, Schulte U (1998) Involvement of two novel chaperones in the assembly of mitochondrial NADH: ubiquinone oxidoreductase (complex I). J Mol Biol 283:409\u2013417","journal-title":"J Mol Biol"},{"key":"4_CR89","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/S0960-8966(01)00244-9","volume":"12","author":"E Lamantea","year":"2002","unstructured":"Lamantea E, Carrara F, Mariotti C, Morandi L, Tiranti V, Zeviani M (2002) A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III. Neuromuscul Disord 12:49\u201352","journal-title":"Neuromuscul Disord"},{"key":"4_CR90","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1038\/46483","volume":"402","author":"CR Lancaster","year":"1999","unstructured":"Lancaster CR, Kroger A, Auer M, Michel H (1999) Structure of fumarate reductase from Wolinella succinogenes at 2.2 A resolution. Nature 402:377\u2013385","journal-title":"Nature"},{"key":"4_CR91","doi-asserted-by":"crossref","first-page":"4228","DOI":"10.1128\/MCB.00074-07","volume":"27","author":"M Lazarou","year":"2007","unstructured":"Lazarou M, McKenzie M, Ohtake A, Thorburn DR, Ryan MT (2007) Analysis of the assembly profiles for mitochondrial- and nuclear-DNA-encoded subunits into complex I. Mol Cell Biol 27:4228\u20134237","journal-title":"Mol Cell Biol"},{"key":"4_CR92","doi-asserted-by":"crossref","first-page":"6701","DOI":"10.1111\/j.1742-4658.2009.07384.x","volume":"276","author":"M Lazarou","year":"2009","unstructured":"Lazarou M, Smith SM, Thorburn DR, Ryan MT, McKenzie M (2009) Assembly of nuclear DNA-encoded subunits into mitochondrial complex IV, and their preferential integration into supercomplex forms in patient mitochondria. FEBS J 276:6701\u20136713","journal-title":"FEBS J"},{"key":"4_CR93","doi-asserted-by":"crossref","first-page":"1839","DOI":"10.1093\/hmg\/ddh197","volume":"13","author":"SC Leary","year":"2004","unstructured":"Leary SC, Kaufman BA, Pellecchia G et al (2004) Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase. Hum Mol Genet 13:1839\u20131848","journal-title":"Hum Mol Genet"},{"key":"4_CR94","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/j.cmet.2006.12.001","volume":"5","author":"SC Leary","year":"2007","unstructured":"Leary SC, Cobine PA, Kaufman BA et al (2007) The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis. Cell Metab 5:9\u201320","journal-title":"Cell Metab"},{"key":"4_CR95","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1107\/S0907444901005625","volume":"57","author":"SJ Lee","year":"2001","unstructured":"Lee SJ, Yamashita E, Abe T et al (2001) Intermonomer interactions in dimer of bovine heart cytochrome c oxidase. Acta Crystallogr D: Biol Crystallogr 57:941\u2013947","journal-title":"Acta Crystallogr D: Biol Crystallogr"},{"key":"4_CR96","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1089\/ars.2009.2704","volume":"12","author":"G Lenaz","year":"2010","unstructured":"Lenaz G, Genova ML (2010) Structure and organization of mitochondrial respiratory complexes: a new understanding of an old subject. Antioxid Redox Signal 12:961\u20131008","journal-title":"Antioxid Redox Signal"},{"key":"4_CR97","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.bbabio.2004.03.013","volume":"1658","author":"G Lenaz","year":"2004","unstructured":"Lenaz G, Baracca A, Carelli V, D\u2019Aurelio M, Sgarbi G, Solaini G (2004) Bioenergetics of mitochondrial diseases associated with mtDNA mutations. Biochim Biophys Acta 1658:89\u201394","journal-title":"Biochim Biophys Acta"},{"key":"4_CR98","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1002\/hep.24031","volume":"53","author":"P Lev\u00e9en","year":"2011","unstructured":"Lev\u00e9en P, Kotarsky H, M\u00f6rgelin M, Karikoski R, Elm\u00e9r E, Fellman V (2011) The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: a viable mouse model for mitochondrial hepatopathy. Hepatology 53:437\u2013447","journal-title":"Hepatology"},{"key":"4_CR99","doi-asserted-by":"crossref","first-page":"12344","DOI":"10.1074\/jbc.M600582200","volume":"281","author":"K Li","year":"2006","unstructured":"Li K, Tong WH, Hughes RM, Rouault TA (2006) Roles of the mammalian cytosolic cysteine desulfurase, ISCS, and scaffold protein, ISCU, in iron-sulfur cluster assembly. J Biol Chem 281:12344\u201312351","journal-title":"J Biol Chem"},{"key":"4_CR100","doi-asserted-by":"crossref","first-page":"21971","DOI":"10.1074\/jbc.M109.011197","volume":"284","author":"H Li","year":"2009","unstructured":"Li H, Gakh O, Smith DY, Isaya G (2009) Oligomeric yeast frataxin drives assembly of core machinery for mitochondrial iron-sulfur cluster synthesis. J Biol Chem 284:21971\u201321980","journal-title":"J Biol Chem"},{"key":"4_CR101","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1016\/S0968-0004(00)01589-9","volume":"25","author":"R Lill","year":"2000","unstructured":"Lill R, Kispal G (2000) Maturation of cellular Fe-S proteins: an essential function of mitochondria. Trends Biochem Sci 25:352\u2013356","journal-title":"Trends Biochem Sci"},{"key":"4_CR102","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1146\/annurev.biochem.76.052705.162653","volume":"77","author":"R Lill","year":"2008","unstructured":"Lill R, M\u00fchlenhoff U (2008) Maturation of iron-sulfur proteins in eukaryotes: mechanisms, connected processes, and diseases. Annu Rev Biochem 77:669\u2013700","journal-title":"Annu Rev Biochem"},{"key":"4_CR103","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1002\/(SICI)1098-1004(200002)15:2<123::AID-HUMU1>3.0.CO;2-P","volume":"15","author":"JL Loeffen","year":"2000","unstructured":"Loeffen JL, Smeitink JA, Trijbels JM et al (2000) Isolated complex I deficiency in children: clinical, biochemical and genetic aspects. Hum Mutat 15:123\u2013134","journal-title":"Hum Mutat"},{"key":"4_CR104","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.2741\/2130","volume":"12","author":"C Mancuso","year":"2007","unstructured":"Mancuso C, Scapagini G, Curr\u00f2 D et al (2007) Mitochondrial dysfunction, free radical generation and cellular stress response in neurodegenerative disorders. Front Biosci 12:1107\u20131123","journal-title":"Front Biosci"},{"key":"4_CR105","doi-asserted-by":"crossref","first-page":"14356","DOI":"10.1074\/jbc.272.22.14356","volume":"272","author":"G Mashkevich","year":"1997","unstructured":"Mashkevich G, Repetto B, Glerum DM, Jin C, Tzagoloff A (1997) SHY1, the yeast homolog of the mammalian SURF-1 gene, encodes a mitochondrial protein required for respiration. J Biol Chem 272:14356\u201314364","journal-title":"J Biol Chem"},{"key":"4_CR106","doi-asserted-by":"crossref","first-page":"1281","DOI":"10.1016\/j.ajhg.2008.05.002","volume":"82","author":"V Massa","year":"2008","unstructured":"Massa V, Fernandez-Vizarra E, Alshahwan S et al (2008) Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase. Am J Hum Genet 82:1281\u20131289","journal-title":"Am J Hum Genet"},{"key":"4_CR107","doi-asserted-by":"crossref","first-page":"3430","DOI":"10.1093\/hmg\/ddq254","volume":"19","author":"JA Mayr","year":"2010","unstructured":"Mayr JA, Havl\u00edckov\u00e1 V, Zimmermann F et al (2010) Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit. Hum Mol Genet 19:3430\u20133439","journal-title":"Hum Mol Genet"},{"key":"4_CR108","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1111\/j.1365-2796.2008.02066.x","volume":"265","author":"R McFarland","year":"2009","unstructured":"McFarland R, Turnbull DM (2009) Batteries not included: diagnosis and management of mitochondrial disease. J Intern Med 265:210\u2013228","journal-title":"J Intern Med"},{"key":"4_CR109","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1002\/iub.335","volume":"62","author":"M McKenzie","year":"2010","unstructured":"McKenzie M, Ryan MT (2010) Assembly factors of human mitochondrial complex I and their defects in disease. IUBMB Life 62:497\u2013502","journal-title":"IUBMB Life"},{"key":"4_CR110","doi-asserted-by":"crossref","first-page":"4347","DOI":"10.1038\/sj.emboj.7601862","volume":"26","author":"DU Mick","year":"2007","unstructured":"Mick DU, Wagner K, van der Laan M et al (2007) Shy1 couples Cox1 translational regulation to cytochrome c oxidase assembly. EMBO J 26:4347\u20134358","journal-title":"EMBO J"},{"key":"4_CR111","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1016\/j.ajhg.2007.12.012","volume":"82","author":"F Mochel","year":"2008","unstructured":"Mochel F, Knight MA, Tong WH et al (2008) Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance. Am J Hum Genet 82:652\u2013660","journal-title":"Am J Hum Genet"},{"key":"4_CR112","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1073\/pnas.242716699","volume":"100","author":"VK Mootha","year":"2003","unstructured":"Mootha VK, Lepage P, Miller K (2003) Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. Proc Natl Acad Sci USA 100:605\u2013610","journal-title":"Proc Natl Acad Sci USA"},{"key":"4_CR113","doi-asserted-by":"crossref","first-page":"892","DOI":"10.1038\/nrmicro1767","volume":"5","author":"AY Mulkidjanian","year":"2007","unstructured":"Mulkidjanian AY, Makarova KS, Galperin MY, Koonin EV (2007) Inventing the dynamo machine: the evolution of the F-type and V-type ATPases. Nat Rev Microbiol 5:892\u2013899","journal-title":"Nat Rev Microbiol"},{"key":"4_CR114","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1002\/ajmg.1391","volume":"106","author":"A Munnich","year":"2001","unstructured":"Munnich A, Rustin P (2001) Clinical spectrum and diagnosis of mitochondrial disorders. Am J Med Genet 106:4\u201317","journal-title":"Am J Med Genet"},{"key":"4_CR115","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1074\/jbc.271.1.521","volume":"271","author":"K Nakamura","year":"1996","unstructured":"Nakamura K, Yamaki M, Sarada M et al (1996) Two hydrophobic subunits are essential for the heme b ligation and functional assembly of complex II (succinate-ubiquinone oxidoreductase) from Escherichia coli. J Biol Chem 271:521\u2013527","journal-title":"J Biol Chem"},{"key":"4_CR116","doi-asserted-by":"crossref","first-page":"12846","DOI":"10.1074\/jbc.M112099200","volume":"277","author":"FE Nargang","year":"2002","unstructured":"Nargang FE, Preuss M, Neupert W, Herrmann JM (2002) The Oxa1 protein forms a homooligomeric complex and is an essential part of the mitochondrial export translocase in Neurospora crassa. J Biol Chem 277:12846\u201312853","journal-title":"J Biol Chem"},{"key":"4_CR117","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1016\/0925-4439(95)00087-9","volume":"1272","author":"LG Nijtmans","year":"1995","unstructured":"Nijtmans LG, Klement P, Houstek J, van den Bogert C (1995) Assembly of mitochondrial ATP synthase in cultured human cells: implications for mitochondrial diseases. Biochim Biophys Acta 1272:190\u2013198","journal-title":"Biochim Biophys Acta"},{"key":"4_CR118","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1046\/j.1432-1327.1998.2540389.x","volume":"254","author":"LG Nijtmans","year":"1998","unstructured":"Nijtmans LG, Taanman JW, Muijsers AO, Speijer D, Van den Bogert C (1998) Assembly of cytochrome-c oxidase in cultured human cells. Eur J Biochem 254:389\u2013394","journal-title":"Eur J Biochem"},{"key":"4_CR119","doi-asserted-by":"crossref","first-page":"3821","DOI":"10.1002\/j.1460-2075.1992.tb05474.x","volume":"11","author":"FG Nobrega","year":"1992","unstructured":"Nobrega FG, Nobrega MP, Tzagoloff A (1992) BCS1, a novel gene required for the expression of functional Rieske iron\u2013sulfur protein in Saccharomyces cerevisiae. EMBO J 11:3821\u20133829","journal-title":"EMBO J"},{"key":"4_CR120","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1016\/j.cmet.2010.08.002","volume":"12","author":"J Nouws","year":"2010","unstructured":"Nouws J, Nijtmans L, Houten SM et al (2010) Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I. Cell Metab 12:283\u2013294","journal-title":"Cell Metab"},{"key":"4_CR121","doi-asserted-by":"crossref","first-page":"2784","DOI":"10.1172\/JCI26020","volume":"115","author":"I Ogilvie","year":"2005","unstructured":"Ogilvie I, Kennaway NG, Shoubridge EA (2005) A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. J Clin Invest 115:2784\u20132792","journal-title":"J Clin Invest"},{"key":"4_CR122","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.cell.2008.06.016","volume":"134","author":"DJ Pagliarini","year":"2008","unstructured":"Pagliarini DJ, Calvo SE, Chang B et al (2008) A mitochondrial protein compendium elucidates complex I disease biology. Cell 134:112\u2013123","journal-title":"Cell"},{"key":"4_CR123","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1038\/15513","volume":"23","author":"LC Papadopoulou","year":"1999","unstructured":"Papadopoulou LC, Sue CM, Davidson MM et al (1999) Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. Nat Genet 23:333\u2013337","journal-title":"Nat Genet"},{"key":"4_CR124","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1093\/emboj\/21.3.221","volume":"21","author":"P Paumard","year":"2002","unstructured":"Paumard P, Vaillier J, Coulary B et al (2002) The ATP synthase is involved in generating mitochondrial cristae morphology. EMBO J 21:221\u2013230","journal-title":"EMBO J"},{"key":"4_CR125","doi-asserted-by":"crossref","first-page":"S213","DOI":"10.33549\/physiolres.930000.53.S213","volume":"53","author":"P Pecina","year":"2004","unstructured":"Pecina P, Houstkova H, Hans\u0131kova H, Zeman J, Houstek J (2004) Genetic defects of cytochrome c oxidase assembly. Physiol Res 53:S213\u2013S223","journal-title":"Physiol Res"},{"key":"4_CR126","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1111\/j.1399-0004.2009.01195.x","volume":"76","author":"D Piekutowska-Abramczuk","year":"2009","unstructured":"Piekutowska-Abramczuk D, Magner M, Popowska E et al (2009) SURF1 missense mutations promote a mild Leigh phenotype. Clin Genet 76:195\u2013204","journal-title":"Clin Genet"},{"key":"4_CR127","doi-asserted-by":"crossref","first-page":"953","DOI":"10.1093\/hmg\/ddl012","volume":"15","author":"C Pondarr\u00e9","year":"2006","unstructured":"Pondarr\u00e9 C, Antiochos BB, Campagna DR et al (2006) The mitochondrial ATP-binding cassette transporter Abcb7 is essential in mice and participates in cytosolic iron-sulfur cluster biogenesis. Hum Mol Genet 15:953\u2013964","journal-title":"Hum Mol Genet"},{"key":"4_CR128","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1016\/j.ejpn.2009.09.008","volume":"14","author":"M Pronicki","year":"2010","unstructured":"Pronicki M, Kowalski P, Piekutowska-Abramczuk D et al (2010) A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency. Eur J Paediatr Neurol 14:253\u2013260","journal-title":"Eur J Paediatr Neurol"},{"key":"4_CR129","doi-asserted-by":"crossref","first-page":"1047","DOI":"10.1083\/jcb.200811099","volume":"185","author":"R Rabl","year":"2009","unstructured":"Rabl R, Soubannier V, Scholz R et al (2009) Formation of cristae and crista junctions in mitochondria depends on antagonism between Fcj1 and Su e\/g. J Cell Biol 185:1047\u20131063","journal-title":"J Cell Biol"},{"key":"4_CR130","doi-asserted-by":"crossref","first-page":"920","DOI":"10.1038\/emboj.2010.364","volume":"30","author":"M Rak","year":"2011","unstructured":"Rak M, Gokova S, Tzagoloff A (2011) Modular assembly of yeast mitochondrial ATP synthase. EMBO J 30:920\u2013930","journal-title":"EMBO J"},{"key":"4_CR131","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1007\/s00438-008-0350-5","volume":"280","author":"C Remacle","year":"2008","unstructured":"Remacle C, Barbieri MR, Cardol P, Hamel PP (2008) Eukaryotic complex I: functional diversity and experimental systems to unravel the assembly process. Mol Genet Genomics 280:93\u2013110","journal-title":"Mol Genet Genomics"},{"key":"4_CR132","doi-asserted-by":"crossref","first-page":"4055","DOI":"10.1074\/jbc.271.8.4055","volume":"271","author":"KM Robinson","year":"1996","unstructured":"Robinson KM, Lemire BD (1996) Covalent attachment of FAD to the yeast succinate dehydrogenase flavoprotein requires import into mitochondria, presequence removal, and folding. J Biol Chem 271:4055\u20134060","journal-title":"J Biol Chem"},{"key":"4_CR134","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1016\/j.tig.2008.05.008","volume":"24","author":"TA Rouault","year":"2008","unstructured":"Rouault TA, Tong WH (2008) Iron-sulfur cluster biogenesis and human disease. Trends Genet 24:398\u2013407","journal-title":"Trends Genet"},{"key":"4_CR135","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1016\/j.ajhg.2007.08.003","volume":"82","author":"A Saada","year":"2008","unstructured":"Saada A, Edvardson S, Rapoport M et al (2008) C6ORF66 is an assembly factor of mitochondrial complex I. Am J Hum Genet 82:32\u201338","journal-title":"Am J Hum Genet"},{"key":"4_CR136","doi-asserted-by":"crossref","first-page":"718","DOI":"10.1016\/j.ajhg.2009.04.020","volume":"84","author":"A Saada","year":"2009","unstructured":"Saada A, Vogel RO, Hoefs SJ et al (2009) Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. Am J Hum Genet 84:718\u2013727","journal-title":"Am J Hum Genet"},{"issue":"1","key":"4_CR137","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1007\/s10545-011-9348-y","volume":"35","author":"A Saada","year":"2012","unstructured":"Saada A, Edvardson S, Shaag A et al (2012) Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7. J Inherit Metab Dis 35(1):125\u2013131","journal-title":"J Inherit Metab Dis"},{"key":"4_CR138","doi-asserted-by":"crossref","first-page":"1315","DOI":"10.1091\/mbc.e10-01-0047","volume":"21","author":"F Sasarman","year":"2010","unstructured":"Sasarman F, Brunel-Guitton C, Antonicka H et al (2010) LRPPRC and SLIRP interact in a ribonucleoprotein complex that regulates posttranscriptional gene expression in mitochondria. Mol Biol Cell 21:1315\u20131323","journal-title":"Mol Biol Cell"},{"key":"4_CR139","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/j.bbabio.2004.09.005","volume":"1659","author":"AM Schaefer","year":"2004","unstructured":"Schaefer AM, Taylor RW, Turnbull DM, Chinnery PF (2004) The epidemiology of mitochondrial disorders: past, present and future. Biochim Biophys Acta 1659:115\u2013120","journal-title":"Biochim Biophys Acta"},{"key":"4_CR140","doi-asserted-by":"crossref","first-page":"12579","DOI":"10.1021\/bi700983h","volume":"46","author":"E Sch\u00e4fer","year":"2007","unstructured":"Sch\u00e4fer E, Dencher NA, Vonck J, Parcej DN (2007) Three-dimensional structure of the respiratory chain supercomplex I1III2IV1 from bovine heart mitochondria. Biochemistry 46:12579\u201312585","journal-title":"Biochemistry"},{"key":"4_CR141","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1016\/S0005-2728(02)00271-2","volume":"1555","author":"H Sch\u00e4gger","year":"2002","unstructured":"Sch\u00e4gger H (2002) Respiratory chain supercomplexes of mitochondria and bacteria. Biochim Biophys Acta 1555:154\u2013159","journal-title":"Biochim Biophys Acta"},{"key":"4_CR142","doi-asserted-by":"crossref","first-page":"1777","DOI":"10.1093\/emboj\/19.8.1777","volume":"19","author":"H Schagger","year":"2000","unstructured":"Schagger H, Pfeiffer K (2000) Supercomplexes in the respiratory chains of yeast and mammalian mitochondria. EMBO J 19:1777\u20131783","journal-title":"EMBO J"},{"key":"4_CR143","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/0003-2697(91)90094-A","volume":"199","author":"H Schagger","year":"1991","unstructured":"Schagger H, von Jagow G (1991) Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form. Anal Biochem 199:223\u2013231","journal-title":"Anal Biochem"},{"key":"4_CR144","doi-asserted-by":"crossref","first-page":"2192","DOI":"10.1016\/S0021-9258(18)93462-9","volume":"243","author":"G Schatz","year":"1968","unstructured":"Schatz G (1968) Impaired binding of mitochondrial adenosine triphosphatase in the cytoplasmic \u201cpetite\u201d mutant of Saccharomyces cerevisiae. J Biol Chem 243:2192\u20132199","journal-title":"J Biol Chem"},{"key":"4_CR145","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1016\/j.bbabio.2004.08.002","volume":"1659","author":"IE Scheffler","year":"2004","unstructured":"Scheffler IE, Yadava N, Potluri P (2004) Molecular genetics of complex I-deficient Chinese hamster cell lines. Biochim Biophys Acta 1659:160\u2013171","journal-title":"Biochim Biophys Acta"},{"key":"4_CR146","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1016\/j.tplants.2008.10.001","volume":"13","author":"C Schmitz-Linneweber","year":"2008","unstructured":"Schmitz-Linneweber C, Small I (2008) Pentatricopeptide repeat proteins: a socket set for organelle gene expression. Trends Plant Sci 13:663\u2013670","journal-title":"Trends Plant Sci"},{"key":"4_CR147","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1016\/j.bbabio.2008.03.003","volume":"1777","author":"D Schneider","year":"2008","unstructured":"Schneider D, Pohl T, Walter J et al (2008) Assembly of the Escherichia coli NADH:ubiquinone oxidoreductase (complex I). Biochim Biophys Acta 1777:735\u2013739","journal-title":"Biochim Biophys Acta"},{"key":"4_CR148","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1006\/scdb.2001.0281","volume":"12","author":"EA Schon","year":"2001","unstructured":"Schon EA, Santra S, Pallotti F, Girvin ME (2001) Pathogenesis of primary defects in mitochondrial ATP synthesis. Semin Cell Dev Biol 12:441\u2013448","journal-title":"Semin Cell Dev Biol"},{"key":"4_CR149","doi-asserted-by":"crossref","first-page":"720","DOI":"10.1016\/j.nmd.2010.06.017","volume":"20","author":"J Seeger","year":"2010","unstructured":"Seeger J, Schrank B, Pyle A et al (2010) Clinical and neuropathological findings in patients with TACO1 mutations. Neuromuscul Disord 20:720\u2013724","journal-title":"Neuromuscul Disord"},{"key":"4_CR150","doi-asserted-by":"crossref","first-page":"6059","DOI":"10.1128\/MCB.00817-09","volume":"29","author":"AD Sheftel","year":"2009","unstructured":"Sheftel AD, Stehling O, Pierik AJ et al (2009) Human ind1, an iron-sulfur cluster assembly factor for respiratory complex I. Mol Cell Biol 29:6059\u20136073","journal-title":"Mol Cell Biol"},{"key":"4_CR151","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1016\/j.nmd.2006.08.008","volume":"16","author":"W Sperl","year":"2006","unstructured":"Sperl W, Jesina P, Zeman J et al (2006) Deficiency of mitochondrial ATP synthase of nuclear genetic origin. Neuromuscul Disord 16:821\u2013829","journal-title":"Neuromuscul Disord"},{"key":"4_CR152","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1136\/jmg.2010.084608","volume":"48","author":"R Spiegel","year":"2011","unstructured":"Spiegel R, Khayat M, Shalev SA et al (2011) TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome. J Med Genet 48:177\u2013182","journal-title":"J Med Genet"},{"key":"4_CR153","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1042\/BJ20050807","volume":"392","author":"L Stiburek","year":"2005","unstructured":"Stiburek L, Vesela K, Hansikova H et al (2005) Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1. Biochem J 392:625\u2013632","journal-title":"Biochem J"},{"key":"4_CR154","doi-asserted-by":"crossref","first-page":"S27","DOI":"10.33549\/physiolres.930000.55.S2.27","volume":"55","author":"L Stiburek","year":"2006","unstructured":"Stiburek L, Hansikova H, Tesarova M, Cerna L, Zeman J (2006) Biogenesis of eukaryotic cytochrome c oxidase. Physiol Res 55:S27\u2013S41","journal-title":"Physiol Res"},{"key":"4_CR187","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1016\/j.jmb.2007.09.044","volume":"374","author":"L Stiburek","year":"2007","unstructured":"Stiburek L, Fornuskova D, Wenchich L, Pejznochova M, Hansikova H, Zeman J (2007) Knockdown of human Oxa1l impairs the biogenesis of F1Fo-ATP synthase and NADH:ubiquinone oxidoreductase. J Mol Biol 374:506\u2013516","journal-title":"J Mol Biol"},{"key":"4_CR155","doi-asserted-by":"crossref","first-page":"C1218","DOI":"10.1152\/ajpcell.00564.2008","volume":"296","author":"L Stiburek","year":"2009","unstructured":"Stiburek L, Vesela K, Hansikova H, Hulkova H, Zeman J (2009) Loss of function of Sco1 and its interaction with cytochrome c oxidase. Am J Physiol Cell Physiol 296:C1218\u2013C1226","journal-title":"Am J Physiol Cell Physiol"},{"key":"4_CR156","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1016\/j.ajhg.2008.09.009","volume":"83","author":"C Sugiana","year":"2008","unstructured":"Sugiana C, Pagliarini DJ, McKenzie M et al (2008) Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease. Am J Hum Genet 83:468\u2013478","journal-title":"Am J Hum Genet"},{"key":"4_CR157","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1016\/j.cell.2005.05.025","volume":"121","author":"F Sun","year":"2005","unstructured":"Sun F, Huo X, Zhai Y et al (2005) Crystal structure of mitochondrial respiratory membrane protein complex II. Cell 121:1043\u20131057","journal-title":"Cell"},{"key":"4_CR158","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1006\/bbrc.1993.1390","volume":"192","author":"Y Tatuch","year":"1993","unstructured":"Tatuch Y, Robinson BH (1993) The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria. Biochem Biophys Res Commun 192:124\u2013128","journal-title":"Biochem Biophys Res Commun"},{"key":"4_CR159","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/j.bbabio.2004.08.006","volume":"1659","author":"DR Thorburn","year":"2004","unstructured":"Thorburn DR, Sugiana C, Salemi R et al (2004) Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders. Biochim Biophys Acta 1659:121\u2013128","journal-title":"Biochim Biophys Acta"},{"key":"4_CR160","doi-asserted-by":"crossref","first-page":"1609","DOI":"10.1086\/302150","volume":"63","author":"V Tiranti","year":"1998","unstructured":"Tiranti V, Hoertnagel K, Carrozzo R et al (1998) Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet 63:1609\u20131621","journal-title":"Am J Hum Genet"},{"key":"4_CR161","doi-asserted-by":"crossref","first-page":"2533","DOI":"10.1093\/hmg\/8.13.2533","volume":"8","author":"V Tiranti","year":"1999","unstructured":"Tiranti V, Galimberti C, Nijtmans L, Bovolenta S, Perini MP, Zeviani M (1999) Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions. Hum Mol Genet 8:2533\u20132540","journal-title":"Hum Mol Genet"},{"key":"4_CR162","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/j.cmet.2006.02.003","volume":"3","author":"WH Tong","year":"2006","unstructured":"Tong WH, Rouault TA (2006) Functions of mitochondrial ISCU and cytosolic ISCU in mammalian iron-sulfur cluster biogenesis and iron homeostasis. Cell Metab 3:199\u2013210","journal-title":"Cell Metab"},{"key":"4_CR163","doi-asserted-by":"crossref","first-page":"1136","DOI":"10.1126\/science.272.5265.1136","volume":"272","author":"T Tsukihara","year":"1996","unstructured":"Tsukihara T, Aoyama H, Yamashita E et al (1996) The whole structure of the 13-subunit oxidized cytochrome c oxidase at 2.8 A. Science 272:1136\u20131144","journal-title":"Science"},{"key":"4_CR164","doi-asserted-by":"crossref","first-page":"5027","DOI":"10.1016\/S0021-9258(18)94305-X","volume":"244","author":"A Tzagoloff","year":"1969","unstructured":"Tzagoloff A (1969) Assembly of the mitochondrial membrane system. II. Synthesis of the mitochondrial adenosine triphosphatase, F1. J Biol Chem 244:5027\u20135033","journal-title":"J Biol Chem"},{"key":"4_CR165","doi-asserted-by":"crossref","first-page":"7392","DOI":"10.1074\/jbc.271.13.7392","volume":"271","author":"A Tzagoloff","year":"1996","unstructured":"Tzagoloff A, Jang J, Glerum M, Wu M (1996) FLX1 codes for a carrier protein involved in maintaining a proper balance of flavin nucleotides in yeast mitochondria. J Biol Chem 271:7392\u20137397","journal-title":"J Biol Chem"},{"key":"4_CR166","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1093\/hmg\/ddh071","volume":"13","author":"C Ugalde","year":"2004","unstructured":"Ugalde C, Janssen RJ, van den Heuvel LP, Smeitink JA, Nijtmans LG (2004) Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency. Hum Mol Genet 13:659\u2013667","journal-title":"Hum Mol Genet"},{"key":"4_CR167","first-page":"1104","volume":"67","author":"I Valnot","year":"2000","unstructured":"Valnot I, Osmond S, Gigarel N et al (2000) Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. Am J Hum Genet 67:1104\u20131109","journal-title":"Am J Hum Genet"},{"key":"4_CR168","doi-asserted-by":"crossref","first-page":"764","DOI":"10.1016\/S1470-2045(09)70164-0","volume":"10","author":"FH van Nederveen","year":"2009","unstructured":"van Nederveen FH, Gaal J, Favier J et al (2009) An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis. Lancet Oncol 10:764\u2013771","journal-title":"Lancet Oncol"},{"key":"4_CR169","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1086\/342773","volume":"71","author":"I Visap\u00e4\u00e4","year":"2002","unstructured":"Visap\u00e4\u00e4 I, Fellman V, Vesa J et al (2002) GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. Am J Hum Genet 71:863\u2013876","journal-title":"Am J Hum Genet"},{"key":"4_CR170","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1016\/j.bbabio.2007.07.008","volume":"1767","author":"RO Vogel","year":"2007","unstructured":"Vogel RO, Smeitink JA, Nijtmans LG (2007) Human mitochondrial complex I assembly: a dynamic and versatile process. Biochim Biophys Acta 1767:1215\u20131227","journal-title":"Biochim Biophys Acta"},{"key":"4_CR171","doi-asserted-by":"crossref","first-page":"1494","DOI":"10.1091\/mbc.e09-12-1023","volume":"21","author":"K Wagner","year":"2010","unstructured":"Wagner K, Perschil I, Fichter CD, van der Laan M (2010) Stepwise assembly of dimeric F(1)F(o)-ATP synthase in mitochondria involves the small F(o)-subunits k and i. Mol Biol Cell 21:1494\u20131504","journal-title":"Mol Biol Cell"},{"key":"4_CR172","doi-asserted-by":"crossref","first-page":"1486","DOI":"10.1093\/emboj\/19.7.1486","volume":"19","author":"ZG Wang","year":"2000","unstructured":"Wang ZG, Sheluho D, Gatti DL, Ackerman SH (2000) The alpha-subunit of the mitochondrial F(1) ATPase interacts directly with the assembly factor Atp12p. EMBO J 19:1486\u20131493","journal-title":"EMBO J"},{"key":"4_CR173","doi-asserted-by":"crossref","first-page":"30773","DOI":"10.1074\/jbc.M104133200","volume":"276","author":"ZG Wang","year":"2001","unstructured":"Wang ZG, White PS, Ackerman SH (2001) Atp11p and Atp12p are assembly factors for the F(1)-ATPase in human mitochondria. J Biol Chem 276:30773\u201330778","journal-title":"J Biol Chem"},{"key":"4_CR174","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1038\/ng.390","volume":"41","author":"W Weraarpachai","year":"2009","unstructured":"Weraarpachai W, Antonicka H, Sasarman F et al (2009) Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. Nat Genet 41:833\u2013837","journal-title":"Nat Genet"},{"key":"4_CR175","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1038\/nature09973","volume":"472","author":"AP West","year":"2011","unstructured":"West AP, Brodsky IE, Rahner C et al (2011) TLR signalling augments macrophage bactericidal activity through mitochondrial ROS. Nature 472:476\u2013480","journal-title":"Nature"},{"key":"4_CR176","doi-asserted-by":"crossref","first-page":"7462","DOI":"10.1074\/jbc.M309232200","volume":"279","author":"SL Williams","year":"2004","unstructured":"Williams SL, Valnot I, Rustin P, Taanman JW (2004) Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1. J Biol Chem 279:7462\u20137469","journal-title":"J Biol Chem"},{"key":"4_CR177","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1016\/j.bbabio.2008.12.016","volume":"1787","author":"I Wittig","year":"2009","unstructured":"Wittig I, Sch\u00e4gger H (2009) Supramolecular organization of ATP synthase and respiratory chain in mitochondrial membranes. Biochim Biophys Acta 1787:672\u2013680","journal-title":"Biochim Biophys Acta"},{"key":"4_CR178","doi-asserted-by":"crossref","first-page":"1066","DOI":"10.1016\/j.bbabio.2006.05.006","volume":"1757","author":"I Wittig","year":"2006","unstructured":"Wittig I, Carrozzo R, Santorelli FM, Sch\u00e4gger H (2006) Supercomplexes and subcomplexes of mitochondrial oxidative phosphorylation. Biochim Biophys Acta 1757:1066\u20131072","journal-title":"Biochim Biophys Acta"},{"key":"4_CR179","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1042\/BJ20080847","volume":"416","author":"F Xu","year":"2008","unstructured":"Xu F, Ackerley C, Maj MC et al (2008) Disruption of a mitochondrial RNA-binding protein gene results in decreased cytochrome b expression and a marked reduction in ubiquinol-cytochrome c reductase activity in mouse heart mitochondria. Biochem J 416:15\u201326","journal-title":"Biochem J"},{"key":"4_CR180","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1126\/science.1079605","volume":"299","author":"V Yankovskaya","year":"2003","unstructured":"Yankovskaya V, Horsefield R, T\u00f6rnroth S et al (2003) Architecture of succinate dehydrogenase and reactive oxygen species generation. Science 299:700\u2013704","journal-title":"Science"},{"key":"4_CR181","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1023\/A:1020595108560","volume":"30","author":"S Yoshikawa","year":"1998","unstructured":"Yoshikawa S, Shinzawa-Itoh K, Tsukihara T (1998) Crystal structure of bovine heart cytochrome c oxidase at 2.8 A resolution. J Bioenerg Biomembr 30:7\u201314","journal-title":"J Bioenerg Biomembr"},{"key":"4_CR182","doi-asserted-by":"crossref","first-page":"4526","DOI":"10.1111\/j.1742-4658.2007.05982.x","volume":"274","author":"V Zara","year":"2007","unstructured":"Zara V, Conte L, Trumpower BL (2007) Identification and characterization of cytochrome bc(1) subcomplexes in mitochondria from yeast with single and double deletions of genes encoding cytochrome bc(1) subunits. FEBS J 274:4526\u20134539","journal-title":"FEBS J"},{"key":"4_CR183","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.bbamcr.2008.04.011","volume":"1793","author":"V Zara","year":"2009","unstructured":"Zara V, Conte L, Trumpower BL (2009) Biogenesis of the yeast cytochrome bc(1) complex. Biochim Biophys Acta 1793:89\u201396","journal-title":"Biochim Biophys Acta"},{"key":"4_CR184","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/j.bbamcr.2008.06.013","volume":"1793","author":"M Zick","year":"2009","unstructured":"Zick M, Rabl R, Reichert AS (2009) Cristae formation-linking ultrastructure and function of mitochondria. Biochim Biophys Acta 1793:5\u201319","journal-title":"Biochim Biophys Acta"}],"container-title":["Advances in Experimental Medicine and Biology","Mitochondrial Oxidative Phosphorylation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/978-1-4614-3573-0_4","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,6,23]],"date-time":"2023-06-23T21:14:49Z","timestamp":1687554889000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/978-1-4614-3573-0_4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012]]},"ISBN":["9781461435723","9781461435730"],"references-count":186,"URL":"https:\/\/doi.org\/10.1007\/978-1-4614-3573-0_4","relation":{},"ISSN":["0065-2598"],"issn-type":[{"value":"0065-2598","type":"print"}],"subject":[],"published":{"date-parts":[[2012]]},"assertion":[{"value":"11 May 2012","order":1,"name":"first_online","label":"First Online","group":{"name":"ChapterHistory","label":"Chapter History"}}]}}