A novel molecular mechanism to explain biotin-unresponsive holocarboxylase synthetase deficiency-Reference-Cited by-同舟云学术

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

Published:2011-09-06 Issue:1 Volume:90 Page:81-88
ISSN:0946-2716
Container-title:Journal of Molecular Medicine
language:en
Short-container-title:J Mol Med

Author:

Mayende Lungisa,Swift Rachel D.,Bailey Lisa M.,Soares da Costa Tatiana P.,Wallace John C.,Booker Grant W.,Polyak Steven W.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Drug Discovery,Molecular Medicine

Link

http://link.springer.com/content/pdf/10.1007/s00109-011-0811-x.pdf

Reference35 articles.

1. Polyak SW, Chapman-Smith A (2004) Biotin. In: Lane MD, Lennarz WJ (eds) Encyclopedia of biological chemistry. Elsevier, Oxford, pp 174–178

2. Attwood PV, Wallace JC (2002) Chemical and catalytic mechanisms of carboxyl transfer reactions in biotin-dependent enzymes. Acc Chem Res 35:113–120

3. Jitrapakdee S, Wallace JC (2003) The biotin enzyme family: conserved structural motifs and domain rearrangements. Curr Protein Pept Sci 4:217–229

4. Saunders M, Sweetman L, Robinson B, Roth K, Cohn R, Gravel RA (1979) Biotin-response organicaciduria. Multiple carboxylase defects and complementation studies with propionicacidemia in cultured fibroblasts. J Clin Invest 64:1695–1702

5. Wolf B, Feldman GL (1982) The biotin-dependent carboxylase deficiencies. Am J Hum Genet 34:699–716

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2. Expert consensus on screening, diagnosis and treatment of multiple carboxylase deficiency;Journal of Zhejiang University (Medical Sciences);2022-02-01

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