| 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 | 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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| 3 | ACAD9, ACAD9D
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| Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene.
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| Gerards M, van den Bosch BJ, Danhauser K, Serre V, van Weeghel M, Wanders RJ, Nicolaes GA, Sluiter W, Schoonderwoerd K, Scholte HR, Prokisch H, Rötig A, de Coo IF, Smeets HJ.
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| Brain 134(Pt 1):210-9. Epub 2010 Oct 7.
2011
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| 4 | ACAD9
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| Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.
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| Haack TB, Danhauser K, Haberberger B, Hoser J, Strecker V, Boehm D, Uziel G, Lamantea E, Invernizzi F, Poulton J, Rolinski B, Iuso A, Biskup S, Schmidt T, Mewes HW, Wittig I, Meitinger T, Zeviani M, Prokisch H.
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| Nat Genet 42(12):1131-4. Epub 2010 Nov 7.
2010
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| 5 | ACAD9, ACAD9D
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| Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I.
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| Nouws J, Nijtmans L, Houten SM, van den Brand M, Huynen M, Venselaar H, Hoefs S, Gloerich J, Kronick J, Hutchin T, Willems P, Rodenburg R, Wanders R, van den Heuvel L, Smeitink J, Vogel RO.
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| Cell Metab 12(3):283-94.
2010
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| 6 | ACAD9
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| Assembling complex I with ACAD9.
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| Scheffler IE.
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| Cell Metab 12(3):211-2.
2010
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| 7 | ACAD9, CPT1A, CPT1C
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| Carnitine palmitoyltransferase I and Acyl-CoA dehydrogenase 9 in retina: insights of retinopathy in mitochondrial trifunctional protein defects.
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| Roomets E, Kivelä T, Tyni T.
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| Invest Ophthalmol Vis Sci 49(4):1660-4. doi: 10.1167/iovs.07-1094.
2008
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| 8 | ACAD9,ACAD9D,KIAA1257
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| A New Genetic Disorder in Mitochondrial Fatty Acid beta -Oxidation: ACAD9 Deficiency.
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| He M, Rutledge SL, Kelly DR, Palmer CA, Murdoch G, Majumder N, Nicholls RD, Pei Z, Watkins PA, Vockley J.
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| Am J Hum Genet 81(1):87-103. Epub 2007 Jun 4. 2007
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| 9 | ACAD9
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| Acyl-CoA dehydrogenase 9 (ACAD 9) is the long-chain acyl-CoA dehydrogenase in human embryonic and fetal brain.
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| Oey NA, Ruiter JP, Ijlst L, Attie-Bitach T, Vekemans M, Wanders RJ, Wijburg FA.
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| Biochem Biophys Res Commun 346(1):33-7. Epub 2006 May 24. 2006
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| 10 | ACAD9
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| Human acyl-CoA dehydrogenase-9 plays a novel role in the mitochondrial beta-oxidation of unsaturated fatty acids.
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| Ensenauer R, He M, Willard JM, Goetzman ES, Corydon TJ, Vandahl BB, Mohsen AW, Isaya G, Vockley J.
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| J Biol Chem 280(37):32309-16. Epub 2005 Jul 14. 2005
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| 11 | ACAD9
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| Cloning and functional characterization of ACAD-9, a novel member of human acyl-CoA dehydrogenase family.
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| Zhang J, Zhang W, Zou D, Chen G, Wan T, Zhang M, Cao X.
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| Biochem Biophys Res Commun 297(4):1033-42. 2002
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