| 1 | HDAC1, HDAC2, HDAC7, HLCS
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| Holocarboxylase synthetase acts as a biotin-independent transcriptional repressor interacting with HDAC1, HDAC2 and HDAC7.
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| Trujillo-Gonzalez I, Cervantes-Roldan R, Gonzalez-Noriega A, Michalak C, Reyes-Carmona S, Barrios-Garcia T, Meneses-Morales I, Leon-Del-Rio A.
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| Mol Genet Metab 111(3):321-30. doi: 10.1016/j.ymgme.2013.10.016. Epub 2013 Nov 2.
2014
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| 2 | HLCS
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| Effects of single-nucleotide polymorphisms in the human holocarboxylase synthetase gene on enzyme catalysis.
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| Esaki S, Malkaram SA, Zempleni J.
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| Eur J Hum Genet 20(4):428-33. doi: 10.1038/ejhg.2011.198. Epub 2011 Oct 26.
2012
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| 3 | HLCS
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| Human holocarboxylase synthetase with a start site at methionine-58 is the predominant nuclear variant of this protein and has catalytic activity.
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| Bao B, Wijeratne SS, Rodriguez-Melendez R, Zempleni J.
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| Biochem Biophys Res Commun 412(1):115-20. Epub 2011 Jul 23.
2011
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| 4 | HLCS
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| Holocarboxylase synthetase is a chromatin protein and interacts directly with histone H3 to mediate biotinylation of K9 and K18.
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| Bao B, Pestinger V, Hassan YI, Borgstahl GE, Kolar C, Zempleni J.
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| J Nutr Biochem 22(5):470-5. Epub 2010 Aug 5.
2011
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| 5 | HLCS
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| Holocarboxylase synthetase deficiency: novel clinical and molecular findings.
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| Tammachote R, Janklat S, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V.
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| Clin Genet 78(1):88-93. Epub 2009 Dec 2.
2010
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| 6 | HLCS
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| Holocarboxylase synthetase: correlation of protein localisation with biological function.
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| Bailey LM, Wallace JC, Polyak SW.
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| Arch Biochem Biophys 496(1):45-52. Epub 2010 Feb 11.
2010
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| 7 | HLCS
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| The N-terminal domain of human holocarboxylase synthetase facilitates biotinylation via direct interaction with the substrate protein.
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| Lee CK, Cheong C, Jeon YH.
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| FEBS Lett 584(4):675-80. Epub 2010 Jan 19.
2010
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| 8 | HLCS
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| Substrate recognition characteristics of human holocarboxylase synthetase for biotin ligation.
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| Lee CK, Cheong C, Jeon YH.
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| Biochem Biophys Res Commun 391(1):455-60. Epub 2009 Nov 13.
2010
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| 9 | HLCS
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| N- and C-terminal domains in human holocarboxylase synthetase participate in substrate recognition.
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| Hassan YI, Moriyama H, Olsen LJ, Bi X, Zempleni J.
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| Mol Genet Metab 96(4):183-8. Epub 2009 Jan 20.
2009
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| 10 | HLCS
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| Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency.
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| Bailey LM, Ivanov RA, Jitrapakdee S, Wilson CJ, Wallace JC, Polyak SW.
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| Hum Mutat 29(6):E47-57.
2008
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| 11 | HLCS
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| Mutations in the holocarboxylase synthetase gene HLCS.
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| Suzuki Y, Yang X, Aoki Y, Kure S, Matsubara Y.
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| Hum Mutat 26(4):285-90. 2005
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| 12 | HLCS
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| Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.
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| Yang X, Aoki Y, Li X, Sakamoto O, Hiratsuka M, Kure S, Taheri S, Christensen E, Inui K, Kubota M, Ohira M, Ohki M, Kudoh J, Kawasaki K, Shibuya K, Shintani A, Asakawa S, Minoshima S, Shimizu N, Narisawa K, Matsubara Y, Suzuki Y.
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| Hum Genet 109(5):526-34. 2001
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| 13 | HLCS
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| Mechanism of biotin responsiveness in biotin-responsive multiple carboxylase deficiency.
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| Dupuis L, et al.
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| Mol Genet Metab 66(2):80-90. 1999
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| 14 | HLCS
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| Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency.
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| Aoki Y, et al.
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| Hum Genet 104(2):143-8. 1999
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| 15 | DYRK1A, HLCS, KCNJ6, TTC1
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| Gene identification in 1.6-Mb region of the Down syndrome region on chromosome 21.
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| Ohira M, et al.
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| Genome Res 7 : 47-58. 1997
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| 16 | HLCS
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| Assignment of holocarboxylase synthetase gene (HLCS) to human chromosome band 21q22.1 and to mouse chromosome band 16C4 by in situ hybridization.
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| Zhang XX, Leon-Del-Rio A, Gravel RA, Eydoux P.
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| Cytogenet Cell Genet 76(3-4):179. 1997
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| 17 | ATP5O, EZH2, HLCS, LSS, NCAM2, PCNT, PWP2, U2AF1
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| Characterization of chromosome 21 genes; progress report. (abstr)
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| Antonarakis SE, et al.
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| Cytogenet Cell Genet 79 : 40. 1997
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| 18 | HLCS
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| Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency.
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| Dupuis L, et al.
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| Hum Mol Genet 5 : 1011-1016. 1996
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| 19 | HLCS
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| Mapping of the human holocarboxylase synthetase gene (HCS) to the Down syndrome critical region of chromosome 21q22.
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| Blouin JL, et al.
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| Ann Genet 39 : 185-188. 1996
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| 20 | HLCS
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| Molecular analysis of holocarboxylase synthetase deficiency : a missense mutation and a single base deletion are predominant in Japanese patients.
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| Aoki Y, et al.
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| Biochim Biophys Acta 1272 : 168-174. 1995
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| 21 | HLCS
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| Isolation of a cDNA encoding human holocarboxylase synthetase by functional complementation of a biotin auxotroph of Escherichia coli.
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| Leon-Del-Rio A, et al.
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| Proc Natl Acad Sci U S A 92 : 4626-4630. 1995
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| 22 | HLCS
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| Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA.
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| Suzuki Y, et al.
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| Nat Genet 8 : 122-128. 1994
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