| 1 | ADCK3, UDCA
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| Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.
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| Horvath R, Czermin B, Gulati S, Demuth S, Houge G, Pyle A, Dineiger C, Blakely EL, Hassani A, Foley C, Brodhun M, Storm K, Kirschner J, Gorman GS, Lochmüller H, Holinski-Feder E, Taylor RW, Chinnery PF.
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| J Neurol Neurosurg Psychiatry 83(2):174-8. doi: 10.1136/jnnp-2011-301258. Epub 2011 Oct 29.
2012
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| 2 | ADCK3, COQ2, COQ6, COQ9, PDSS1, PDSS2
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| Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ 10).
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| Horvath R.
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| J Inherit Metab Dis 35(4):679-87. doi: 10.1007/s10545-011-9434-1. Epub 2012 Jan 10. Review.
2012
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| 3 | ADCK3
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| Expression of the human atypical kinase ADCK3 rescues coenzyme Q biosynthesis and phosphorylation of Coq polypeptides in yeast coq8 mutants.
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| Xie LX, Hsieh EJ, Watanabe S, Allan CM, Chen JY, Tran UC, Clarke CF.
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| Biochim Biophys Acta 1811(5):348-60. doi: 10.1016/j.bbalip.2011.01.009. Epub 2011 Feb 4.
2011
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| 4 | ADCK3, UDCA
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| Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy.
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| Gerards M, van den Bosch B, Calis C, Schoonderwoerd K, van Engelen K, Tijssen M, de Coo R, van der Kooi A, Smeets H.
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| Mitochondrion 10(5):510-5. doi: 10.1016/j.mito.2010.05.008. Epub 2010 May 23.
2010
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| 5 | ADCK3, UDCA
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| CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.
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| Mollet J, Delahodde A, Serre V, Chretien D, Schlemmer D, Lombes A, Boddaert N, Desguerre I, de Lonlay P, de Baulny HO, Munnich A, Rštig A.
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| Am J Hum Genet 82(3):623-30. 2008
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| 6 | ADCK3, UDC1
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| ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.
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| Lagier-Tourenne C, Tazir M, L—pez LC, Quinzii CM, Assoum M, Drouot N, Busso C, Makri S, Ali-Pacha L, Benhassine T, Anheim M, Lynch DR, Thibault C, Plewniak F, Bianchetti L, Tranchant C, Poch O, DiMauro S, Mandel JL, Barros MH, Hirano M, Koenig M.
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| Am J Hum Genet 82(3):661-72. 2008
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| 7 | ADCK3, COQ10D1, COQ10D2, COQ10D3, COQ2, PDSS1, PDSS2, UDCA
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| Human CoQ10 deficiencies.
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| Quinzii CM, López LC, Naini A, DiMauro S, Hirano M.
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| Biofactors 32(1-4):113-8.PMID: 19096106 2008
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| 8 | AADACL3, AADACL4, ADCK3, AGBL1, AGBL4, ANKRD13C, ANKRD45, ATP13A2, B3GALT2, B3GALT4, B3GALT6, B4GALT2, B4GALT3, B4GALT4, B4GALT5, B4GALT6, BLZF1, BSDC1, C1orf100, C1orf101, C1orf103, C1orf104, C1orf110, C1orf115, C1orf120, C1orf122, C1orf123, C1orf126, C1orf130, C1orf31, C1orf35, C1orf49, C1orf51, C1orf53, C1orf54, C1orf65, C1orf74, C1orf95, C1orf97, CCDC76, CCDC76, CCT3, COL16A1, DDX59, DENND2D, DNALI1, DPM3, FAM131C, FAM167B, FAM176B, FAM76A, FAM78B, FHAD1, FMO4, GJC2, GLUL, GNPAT, GPR157, GPR161, GPR89A, GPR89B, GPR89C, HMGN2, HSPB7, IBA57, ITGB3BP, KIAA1107, KLHL20, MAN1A2, MAP1LC3C, METTL11B, MLK4, MRTO4, NFYC, OR2M3, OR2M7, OR2T12, OR2T33, OR2T34, OR4F16, PEX10, PLA2G2D, PRAMEF12, PRAMEF13, PRAMEF14, PRAMEF15, PRAMEF16, PRAMEF17, PRAMEF18, PRAMEF19, PRAMEF20, PRAMEF21, PTCH2, RC3H1, RGS18, RIMKLA, SEP15, SLC35D1, SMYD2, SRARP, STX6, TBX15, TRIM62, TTLL7, VASH2, WLS, ZBTB18, ZMYM1, ZNF436, ZNF642
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| The DNA sequence and biological annotation of human chromosome 1.
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| Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A, Scott CE, Howe KL, Woodfine K, Spencer CC, Jones MC, Gillson C, Searle S, Zhou Y, Kokocinski F, McDonald L, Evans R, Phillips K, Atkinson A, Cooper R, Jones C, Hall RE, Andrews TD, Lloyd C, Ainscough R, Almeida JP, Ambrose KD, Anderson F, Andrew RW, Ashwell RI, Aubin K, Babbage AK, Bagguley CL, Bailey J, Beasley H, Bethel G, Bird CP, Bray-Allen S, Brown JY, Brown AJ, Buckley D, Burton J, Bye J, Carder C, Chapman JC, Clark SY, Clarke G, Clee C, Cobley V, Collier RE, Corby N, Coville GJ, Davies J, Deadman R, Dunn M, Earthrowl M, Ellington AG, Errington H, Frankish A, Frankland J, French L, Garner P, Garnett J, Gay L, Ghori MR, Gibson R, Gilby LM, Gillett W, Glithero RJ, Grafham DV, Griffiths C, Griffiths-Jones S, Grocock R, Hammond S, Harrison ES, Hart E, Haugen E, Heath PD, Holmes S, Holt K, Howden PJ, Hunt AR, Hunt SE, Hunter G, Isherwood J, James R, Johnson C, Johnson D, Joy A, Kay M, Kershaw JK, Kibukawa M, Kimberley AM, King A, Knights AJ, Lad H, Laird G, Lawlor S, Leongamornlert DA, Lloyd DM, Loveland J, Lovell J, Lush MJ, Lyne R, Martin S, Mashreghi-Mohammadi M, Matthews L, Matthews NS, McLaren S, Milne S, Mistry S, Moore MJ, Nickerson T, O'Dell CN, Oliver K, Palmeiri A, Palmer SA, Parker A, Patel D, Pearce AV, Peck AI, Pelan S, Phelps K, Phillimore BJ, Plumb R, Rajan J, Raymond C, Rouse G, Saenphimmachak C, Sehra HK, Sheridan E, Shownkeen R, Sims S, Skuce CD, Smith M, Steward C, Subramanian S, Sycamore N, Tracey A, Tromans A, Van Helmond Z, Wall M, Wallis JM, White S, Whitehead SL, Wilkinson JE, Willey DL, Williams H, Wilming L, Wray PW, Wu Z, Coulson A, Vaudin M, Sulston JE, Durbin R, Hubbard T, Wooster R, Dunham I, Carter NP, McVean G, Ross MT, Harrow J, Olson MV, Beck S, Rogers J, Bentley DR, Banerjee R, Bryant SP, Burford DC, Burrill WD, Clegg SM, Dhami P, Dovey O, Faulkner LM, Gribble SM, Langford CF, Pandian RD, Porter KM, Prigmore E.
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| Nature 441(7091):315-21. 2006
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| 9 | ADCK3
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| Isolation of a novel gene, CABC1, encoding a mitochondrial protein that is highly homologous to Yyast activity of bc1 complex.
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| Iiizumi M, Arakawa H, Mori T, Ando A, Nakamura Y.
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| Cancer Res 62(5):1246-50. 2002
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