1 | ACAD9, ECSIT, NDUFAF1, TIMMDC1, TMEM126B, TMEM126BD
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| Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency.
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| Sánchez-Caballero L, Ruzzenente B, Bianchi L, Assouline Z, Barcia G, Metodiev MD, Rio M, Funalot B, van den Brand MA, Guerrero-Castillo S, Molenaar JP, Koolen D, Brandt U, Rodenburg RJ, Nijtmans LG, Rötig A.
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| Am J Hum Genet 99(1):208-16. doi: 10.1016/j.ajhg.2016.05.022. Epub 2016 Jun 30. 2016
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2 | TMEM126B, TMEM126BD
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| Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype.
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| Alston CL, Compton AG, Formosa LE, Strecker V, Oláhová M, Haack TB, Smet J, Stouffs K, Diakumis P, Ciara E, Cassiman D, Romain N, Yarham JW, He L, De Paepe B, Vanlander AV, Seneca S, Feichtinger RG, Płoski R, Rokicki D, Pronicka E, Haller RG, Van Hove JL, Bahlo M, Mayr JA, Van Coster R, Prokisch H, Wittig I, Ryan MT, Thorburn DR, Taylor RW.
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| Am J Hum Genet 99(1):217-27. doi: 10.1016/j.ajhg.2016.05.021. Epub 2016 Jun 30.
2016
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3 | ACAD9, ECSIT, NDUFAF1, TIMMDC1, TMEM126B
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| TIMMDC1/C3orf1 functions as a membrane-embedded mitochondrial complex I assembly factor through association with the MCIA complex.
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| Guarani V, Paulo J, Zhai B, Huttlin EL, Gygi SP, Harper JW.
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| Mol Cell Biol 34(5):847-61. doi: 10.1128/MCB.01551-13. Epub 2013 Dec 16.
2014
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4 | NDUFA11, TIMMDC1, TMEM126B
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| Assembly factors for the membrane arm of human complex I.
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| Andrews B, Carroll J, Ding S, Fearnley IM, Walker JE.
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| Proc Natl Acad Sci U S A 110(47):18934-9. doi: 10.1073/pnas.1319247110. Epub 2013 Nov 4.
2013
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5 | TMEM126B
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| Complexome profiling identifies TMEM126B as a component of the mitochondrial complex I assembly complex.
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| Heide H, Bleier L, Steger M, Ackermann J, Dröse S, Schwamb B, Zörnig M, Reichert AS, Koch I, Wittig I, Brandt U.
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| Cell Metab 16(4):538-49. doi: 10.1016/j.cmet.2012.08.009. Epub 2012 Sep 13.
2012
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6 | C10orf110, ENOPH1, THEM2, TMEM126B
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| Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning.
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| Hu RM, Han ZG, Song HD, Peng YD, Huang QH, Ren SX, Gu YJ, Huang CH, Li YB, Jiang CL, Fu G, Zhang QH, Gu BW, Dai M, Mao YF, Gao GF, Rong R, Ye M, Zhou J, Xu SH, Gu J, Shi JX, Jin WR, Zhang CK, Wu TM, Huang GY, Chen Z, Chen MD, Chen JL.
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| Proc Natl Acad Sci U S A 97(17):9543-8. 2000
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