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References

These sources were used to develop the Genetics Home Reference gene summary on the CBS gene.

Banerjee R, Zou CG. Redox regulation and reaction mechanism of human cystathionine-beta-synthase: a PLP-dependent hemesensor protein. Arch Biochem Biophys. 2005 Jan 1;433(1):144-56. Review. PubMed citation
Entrez Gene
Kozich V, Sokolová J, Klatovská V, Krijt J, Janosík M, Jelínek K, Kraus JP. Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity. Hum Mutat. 2010 Jul;31(7):809-19. doi: 10.1002/humu.21273. PubMed citation
Kraus JP, Janosík M, Kozich V, Mandell R, Shih V, Sperandeo MP, Sebastio G, de Franchis R, Andria G, Kluijtmans LA, Blom H, Boers GH, Gordon RB, Kamoun P, Tsai MY, Kruger WD, Koch HG, Ohura T, Gaustadnes M. Cystathionine beta-synthase mutations in homocystinuria. Hum Mutat. 1999;13(5):362-75. Review. PubMed citation
Meier M, Oliveriusova J, Kraus JP, Burkhard P. Structural insights into mutations of cystathionine beta-synthase. Biochim Biophys Acta. 2003 Apr 11;1647(1-2):206-13. Review. PubMed citation
Miles EW, Kraus JP. Cystathionine beta-synthase: structure, function, regulation, and location of homocystinuria-causing mutations. J Biol Chem. 2004 Jul 16;279(29):29871-4. Epub 2004 Apr 15. Review. PubMed citation
Moat SJ, Bao L, Fowler B, Bonham JR, Walter JH, Kraus JP. The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuria. Hum Mutat. 2004 Feb;23(2):206. PubMed citation

Reviewed: July 2011

Published: June 10, 2013