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Items: 1 to 20 of 97

1.

Effects of single-nucleotide polymorphisms in the human holocarboxylase synthetase gene on enzyme catalysis.

Esaki S, Malkaram SA, Zempleni J.

Eur J Hum Genet. 2012 Apr;20(4):428-33. doi: 10.1038/ejhg.2011.198. Epub 2011 Oct 26.

2.

Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency.

Morrone A, Malvagia S, Donati MA, Funghini S, Ciani F, Pela I, Boneh A, Peters H, Pasquini E, Zammarchi E.

Am J Med Genet. 2002 Jul 22;111(1):10-8.

PMID:
12124727
3.

Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency.

Bailey LM, Ivanov RA, Jitrapakdee S, Wilson CJ, Wallace JC, Polyak SW.

Hum Mutat. 2008 Jun;29(6):E47-57. doi: 10.1002/humu.20766.

PMID:
18429047
4.

Three promoters regulate the transcriptional activity of the human holocarboxylase synthetase gene.

Xia M, Malkaram SA, Zempleni J.

J Nutr Biochem. 2013 Nov;24(11):1963-9. doi: 10.1016/j.jnutbio.2013.06.007. Epub 2013 Sep 26.

5.

A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency.

Tang NL, Hui J, Yong CK, Wong LT, Applegarth DA, Vallance HD, Law LK, Fung SL, Mak TW, Sung YM, Cheung KL, Fok TF.

Clin Biochem. 2003 Mar;36(2):145-9.

PMID:
12633764
6.

A novel molecular mechanism to explain biotin-unresponsive holocarboxylase synthetase deficiency.

Mayende L, Swift RD, Bailey LM, Soares da Costa TP, Wallace JC, Booker GW, Polyak SW.

J Mol Med (Berl). 2012 Jan;90(1):81-8. doi: 10.1007/s00109-011-0811-x. Epub 2011 Sep 6.

PMID:
21894551
7.

Mutations in the holocarboxylase synthetase gene HLCS.

Suzuki Y, Yang X, Aoki Y, Kure S, Matsubara Y.

Hum Mutat. 2005 Oct;26(4):285-90. Review.

PMID:
16134170
8.

Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.

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.

Hum Genet. 2001 Nov;109(5):526-34. Epub 2001 Oct 5.

PMID:
11735028
9.

Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects.

Santer R, Muhle H, Suormala T, Baumgartner ER, Duran M, Yang X, Aoki Y, Suzuki Y, Stephani U.

Mol Genet Metab. 2003 Jul;79(3):160-6.

PMID:
12855220
10.

The first reported HLCS gene mutation causing holocarboxylase synthetase deficiency in a Vietnamese patient.

Hui J, Law E, Chung C, Fung S, Yuen P, Tang N.

World J Pediatr. 2012 Aug;8(3):278-80. doi: 10.1007/s12519-011-0301-9. Epub 2011 Aug 27.

PMID:
21874615
11.

Management of a patient with holocarboxylase synthetase deficiency.

Van Hove JL, Josefsberg S, Freehauf C, Thomas JA, Thuy le P, Barshop BA, Woontner M, Mock DM, Chiang PW, Spector E, Meneses-Morales I, Cervantes-Roldán R, León-Del-Río A.

Mol Genet Metab. 2008 Dec;95(4):201-5. doi: 10.1016/j.ymgme.2008.09.006. Epub 2008 Oct 29.

12.
13.

Holocarboxylase synthetase deficiency: report of one case.

Chou IC, Wang CS, Lin WD, Lin HC, Tsai CH, Wang TR, Tsai FJ.

Acta Paediatr Taiwan. 2006 Nov-Dec;47(6):309-11.

PMID:
17407983
14.
15.

Epigenetic synergies between biotin and folate in the regulation of pro-inflammatory cytokines and repeats.

Xue J, Zempleni J.

Scand J Immunol. 2013 Nov;78(5):419-25. doi: 10.1111/sji.12108.

16.

[Gene mutation analysis in four Chinese patients with multiple carboxylase deficiency].

Li D, Liu L, Li XZ, Cheng J, Zhao XY, Zhou R.

Zhonghua Er Ke Za Zhi. 2006 Nov;44(11):865-8. Chinese.

PMID:
17274881
17.

Human holocarboxylase synthetase with a start site at methionine-58 is the predominant nuclear variant of this protein and has catalytic activity.

Bao B, Wijeratne SS, Rodriguez-Melendez R, Zempleni J.

Biochem Biophys Res Commun. 2011 Aug 19;412(1):115-20. doi: 10.1016/j.bbrc.2011.07.055. Epub 2011 Jul 23.

19.

β-Keto and β-hydroxyphosphonate analogs of biotin-5'-AMP are inhibitors of holocarboxylase synthetase.

Sittiwong W, Cordonier EL, Zempleni J, Dussault PH.

Bioorg Med Chem Lett. 2014 Dec 15;24(24):5568-71. doi: 10.1016/j.bmcl.2014.11.010. Epub 2014 Nov 7.

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