Mitochondrial complex I assembly model OXPHOS system (WP4324)

Homo sapiens

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Cited In

• A Pilot Mitochondrial Genome-Wide Association on Migraine Among Saudi Arabians (2022).
• DNA methylation of ARHGAP30 is negatively associated with ARHGAP30 expression in lung adenocarcinoma, which reduces tumor immunity and is detrimental to patient survival (2021).
• Extensive alternative splicing triggered by mitonuclear mismatch in naturally introgressed Rhinolophus bats (2021).

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References

1. The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. Loeffen J, Smeitink J, Triepels R, Smeets R, Schuelke M, Sengers R, et al. Am J Hum Genet. 1998 Dec;63(6):1598–608. PubMed Europe PMC Scholia
2. A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. Ogilvie I, Kennaway NG, Shoubridge EA. J Clin Invest. 2005 Oct;115(10):2784–92. PubMed Europe PMC Scholia
3. Human mitochondrial complex I assembly is mediated by NDUFAF1. Vogel RO, Janssen RJRJ, Ugalde C, Grovenstein M, Huijbens RJ, Visch HJ, et al. FEBS J. 2005 Oct;272(20):5317–26. PubMed Europe PMC Scholia
4. Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly. Vogel RO, Janssen RJRJ, van den Brand MAM, Dieteren CEJ, Verkaart S, Koopman WJH, et al. Genes Dev. 2007 Mar 1;21(5):615–24. PubMed Europe PMC Scholia
5. Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients. Vogel RO, van den Brand MAM, Rodenburg RJ, van den Heuvel LPWJ, Tsuneoka M, Smeitink JAM, et al. Mol Genet Metab. 2007 Jun;91(2):176–82. PubMed Europe PMC Scholia
6. Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease. Dunning CJR, McKenzie M, Sugiana C, Lazarou M, Silke J, Connelly A, et al. EMBO J. 2007 Jul 11;26(13):3227–37. PubMed Europe PMC Scholia
7. C6ORF66 is an assembly factor of mitochondrial complex I. Saada A, Edvardson S, Rapoport M, Shaag A, Amry K, Miller C, et al. Am J Hum Genet. 2008 Jan;82(1):32–8. PubMed Europe PMC Scholia
8. A mitochondrial protein compendium elucidates complex I disease biology. Pagliarini DJ, Calvo SE, Chang B, Sheth SA, Vafai SB, Ong SE, et al. Cell. 2008 Jul 11;134(1):112–23. PubMed Europe PMC Scholia
9. Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. Saada A, Vogel RO, Hoefs SJ, van den Brand MA, Wessels HJ, Willems PH, et al. Am J Hum Genet. 2009 Jun;84(6):718–27. PubMed Europe PMC Scholia
10. Human ind1, an iron-sulfur cluster assembly factor for respiratory complex I. Sheftel AD, Stehling O, Pierik AJ, Netz DJA, Kerscher S, Elsässer HP, et al. Mol Cell Biol. 2009 Nov;29(22):6059–73. PubMed Europe PMC Scholia
11. Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I. Nouws J, Nijtmans L, Houten SM, van den Brand M, Huynen M, Venselaar H, et al. Cell Metab. 2010 Sep 8;12(3):283–94. PubMed Europe PMC Scholia
12. High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. Calvo SE, Tucker EJ, Compton AG, Kirby DM, Crawford G, Burtt NP, et al. Nat Genet. 2010 Oct;42(10):851–8. PubMed Europe PMC Scholia
13. FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy. Fassone E, Duncan AJ, Taanman JW, Pagnamenta AT, Sadowski MI, Holand T, et al. Hum Mol Genet. 2010 Dec 15;19(24):4837–47. PubMed Europe PMC Scholia
14. Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Haack TB, Danhauser K, Haberberger B, Hoser J, Strecker V, Boehm D, et al. Nat Genet. 2010 Dec;42(12):1131–4. PubMed Europe PMC Scholia
15. Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase. Szklarczyk R, Wanschers BF, Cuypers TD, Esseling JJ, Riemersma M, van den Brand MA, et al. Genome Biol. 2012 Feb 22;13(2):R12. PubMed Europe PMC Scholia
16. Complexome profiling identifies TMEM126B as a component of the mitochondrial complex I assembly complex. Heide H, Bleier L, Steger M, Ackermann J, Dröse S, Schwamb B, et al. Cell Metab. 2012 Oct 3;16(4):538–49. PubMed Europe PMC Scholia
17. MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulation. Mick DU, Dennerlein S, Wiese H, Reinhold R, Pacheu-Grau D, Lorenzi I, et al. Cell. 2012 Dec 21;151(7):1528–41. PubMed Europe PMC Scholia
18. NDUFAF7 methylates arginine 85 in the NDUFS2 subunit of human complex I. Rhein VF, Carroll J, Ding S, Fearnley IM, Walker JE. J Biol Chem. 2013 Nov 15;288(46):33016–26. PubMed Europe PMC Scholia
19. Assembly factors for the membrane arm of human complex I. Andrews B, Carroll J, Ding S, Fearnley IM, Walker JE. Proc Natl Acad Sci U S A. 2013 Nov 19;110(47):18934–9. PubMed Europe PMC Scholia
20. TIMMDC1/C3orf1 functions as a membrane-embedded mitochondrial complex I assembly factor through association with the MCIA complex. Guarani V, Paulo J, Zhai B, Huttlin EL, Gygi SP, Harper JW. Mol Cell Biol. 2014 Mar;34(5):847–61. PubMed Europe PMC Scholia
21. Nuclear genetic defects of mitochondrial ATP synthase. Hejzlarová K, Mráček T, Vrbacký M, Kaplanová V, Karbanová V, Nůsková H, et al. Physiol Res. 2014;63(Suppl 1):S57-71. PubMed Europe PMC Scholia
22. The arginine methyltransferase NDUFAF7 is essential for complex I assembly and early vertebrate embryogenesis. Zurita Rendón O, Silva Neiva L, Sasarman F, Shoubridge EA. Hum Mol Genet. 2014 Oct 1;23(19):5159–70. PubMed Europe PMC Scholia
23. Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I. Formosa LE, Mimaki M, Frazier AE, McKenzie M, Stait TL, Thorburn DR, et al. Hum Mol Genet. 2015 May 15;24(10):2952–65. PubMed Europe PMC Scholia
24. A Mutation in the Flavin Adenine Dinucleotide-Dependent Oxidoreductase FOXRED1 Results in Cell-Type-Specific Assembly Defects in Oxidative Phosphorylation Complexes I and II. Zurita Rendón O, Antonicka H, Horvath R, Shoubridge EA. Mol Cell Biol. 2016 Jul 29;36(16):2132–40. PubMed Europe PMC Scholia
25. NDUFAF5 Hydroxylates NDUFS7 at an Early Stage in the Assembly of Human Complex I. Rhein VF, Carroll J, Ding S, Fearnley IM, Walker JE. J Biol Chem. 2016 Jul 8;291(28):14851–60. PubMed Europe PMC Scholia
26. Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene. Bianciardi L, Imperatore V, Fernandez-Vizarra E, Lopomo A, Falabella M, Furini S, et al. Mol Genet Metab. 2016 Nov;119(3):214–22. PubMed Europe PMC Scholia
27. Accessory subunits are integral for assembly and function of human mitochondrial complex I. Stroud DA, Surgenor EE, Formosa LE, Reljic B, Frazier AE, Dibley MG, et al. Nature. 2016 Oct 6;538(7623):123–6. PubMed Europe PMC Scholia
28. The Assembly Pathway of Mitochondrial Respiratory Chain Complex I. Guerrero-Castillo S, Baertling F, Kownatzki D, Wessels HJ, Arnold S, Brandt U, et al. Cell Metab. 2017 Jan 10;25(1):128–39. PubMed Europe PMC Scholia
29. Assembly of mammalian oxidative phosphorylation complexes I-V and supercomplexes. Signes A, Fernandez-Vizarra E. Essays Biochem. 2018 Jul 20;62(3):255–70. PubMed Europe PMC Scholia