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Items: 10

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.

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
3.

Biotin-dependent regulation of gene expression in human cells.

León-Del-Río A.

J Nutr Biochem. 2005 Jul;16(7):432-4. Review.

PMID:
15992685
4.

Novel roles of holocarboxylase synthetase in gene regulation and intermediary metabolism.

Zempleni J, Liu D, Camara DT, Cordonier EL.

Nutr Rev. 2014 Jun;72(6):369-76. doi: 10.1111/nure.12103. Epub 2014 Mar 28. Review.

5.

Microbial biotin protein ligases aid in understanding holocarboxylase synthetase deficiency.

Pendini NR, Bailey LM, Booker GW, Wilce MC, Wallace JC, Polyak SW.

Biochim Biophys Acta. 2008 Jul-Aug;1784(7-8):973-82. doi: 10.1016/j.bbapap.2008.03.011. Epub 2008 Apr 9. Review.

PMID:
18442489
6.

Molecular genetics of biotin metabolism: old vitamin, new science.

Gravel RA, Narang MA.

J Nutr Biochem. 2005 Jul;16(7):428-31. Review.

PMID:
15992684
7.

Chemical and catalytic mechanisms of carboxyl transfer reactions in biotin-dependent enzymes.

Attwood PV, Wallace JC.

Acc Chem Res. 2002 Feb;35(2):113-20. Review.

PMID:
11851389
8.

[Cloning of the holocarboxylase synthetase cDNA and identification of mutations prevalent in Japanese HCS-deficient patients].

Narisawa K, Suzuki Y, Aoki Y.

Nihon Rinsho. 1996 Jan;54(1):259-67. Review. Japanese.

PMID:
8587199
9.

Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism.

Baumgartner ER, Suormala T.

Int J Vitam Nutr Res. 1997;67(5):377-84. Review.

PMID:
9350481
10.

Enzyme studies in biotin-responsive disorders.

Bartlett K, Ghneim HK, Stirk HJ, Wastell H.

J Inherit Metab Dis. 1985;8 Suppl 1:46-52. Review.

PMID:
2864473
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