Cystathionine beta synthase

S. Taoka, S. Ohja, X. Shan, W. D. Kruger, and R. Banerjee, Evidence for heme-mediated redox regulation of human cystathionine beta-synthase activity. J. Biol. Chem. 273, 25179-25184 (1998). 

Chen, X., Jhee, K.-H. and Kruger, W. D. Production of the neuromodulator H2S by cystathionine beta-synthase via the condensation of cysteine and homocysteine. /. Biol. Chem. 279 52082-52086, 2004. 

Kluijtmans, L. A., Boers, G. H., Stevens, E. M. et al. Defective cystathionine beta-synthase regulation by S-adenosyl-methionine in a partially pyridoxine responsive homocys-tinuria patient./. Clin. Invest. 98 285-289,1996. 

Yang F, Hanson NQ, Schwichtenberg K, Tsai MY. Variable number tandem repeat in exon/intron border of the cystathionine beta-synthase gene a single nucleotide substitution in the second repeat prevents multiple alternate splicing. Am J Med Genet 2000 95 385-390. 

Jhee KH, McPhie P, and Miles EW (2000) Yeast cystathionine beta-synthase is a pyridoxal phosphate enzyme but, unlike the human enzyme, is not a heme protein. Journal of Biological Chemistry 275,11541. ... 

Kabil O, Toaka S, LoBrutto R, Shoemaker R, and Banerjee R (2001) Pyridoxal phosphate binding sites are similar in human heme-dependent and yeast heme-independent cystathionine beta-synthases. Evidence from P NMR and pulsed EPR spectroscopy that heme and PLP cofactors are not proximal in the human enzyme. Journal of Biological Chemistry 276,19350-5. 

Tsai MY, Yang F, Bignell M, Aras O, and Hanson NQ (1999) Relation between plasma homocysteine concentration, the 844ins68 variant ofthe cystathionine beta-synthase gene, and pyridoxal-5 -phosphate concentration. Molecular Genetics and Metabolism 67, 352-6. 

Mudd SH, Skovby F, Levy HL, Pettigrew KD, Wilcken B, Pyeritz RE, et al. The natural history of homo-cystinuria due to cystathionine beta-synthase deficiency. Am J Hum Genet 1985 37 1-31. 

Baneijee R, Evande R, Kabil O, Ojha S, Taoka S. (2003) Reaction mechanism and regulation of cystathionine beta-synthase. Biochim Biophys Acta 1647 30-35. 

Vitvitsky V, Prudova A, Stabler S, Dayal S, Lentz SR, Baneijee R. (2007) Testosterone regulation of renal cystathionine beta-synthase implications for sex-dependent differences in plasma homocysteine levels. Am J Physiol Renal Physiol 293 F594-600. 

Kery, V., Bukovska, G., and Kraus, J.P (1994) Transsulfuration depends on heme in addition to pyridoxal 5 -phosphate. Cystathionine beta-synthase is a heme protein. J. Biol. Chem. 269, 25283-25288. 

Janosik, M., Kery, V., Gaustadnes, M., Maclean, K.N., and Kraus, J.P (2001) Regulation of human cystathionine beta-synthase by S-adenosyl-L-methionine Evidence for two catalytically active conformations involving an autoinhibitory domain in the C-termi-nal region. Biochemistry 40,10625-10633. 

M. Gaustadnes. Cystathionine beta-synthase mutations in homocystinuria. Hum Mutat. 1999, 13, 362-375. 

He, J., Deng, J., Zheng, Y., and Gu, J. (2006) A synergistic effect on the production of S-adenosyl-L-methionine in Pichia pastoris by knocking in of S-adenosyl-L-methionine synthase and knocking out of cystathionine-beta synthase. /. BiotechnoL, 126, 519-527. 

Singh RH, et al. Cystathionine beta-synthase deficiency effects of betaine supplementation after methionine restriction in B6-nonresponsive homocystinuria. Genet Med. 2004 6(2) 90-5. 

Abbott MH, et al. Psychiatric manifestations of homocystinuria due to cystathionine beta-synthase deficiency prevalence, natural history, and relationship to neurologic impairment and vitamin B6-responsiveness. Am J Med Genet. 1987 26(4) 959-69. 

Kluijtmans LA, et al. Homozygous cystathionine beta-synthase deficiency, combined with factor V Leiden or thermolabile methylenetetrahydrofolate reductase in the risk of venous thrombosis. Blood. 1998 91(6) 2015-8. 

De Franchis R, et al. Clinical aspects of cystathionine beta-synthase deficiency how wide is the spectrum The Italian Collaborative Study Group on Homocystinuria. Eur J Pediatr. 1998 157 Suppl 2 S67-70. 

Janosik M, et al. Birth prevalence of homocystinuria in Central Europe frequency and pathogenicity of mutation c.ll05C>T (p.R369C) in the cystathionine beta-synthase gene. J Pediatr. 2009 154(3) 431-7. 

Skovby F, Gaustadnes M, Mudd SH. A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency. Mol Genet Metab. 2010 99(1) 1-3. 

Magner M, et al. Vascular presentation of cystathionine beta-synthase deficiency in adulthood. J Inherit Metab Dis. 2011 34(l) 33-7. 

Keating AK, et al. Constitutive induction of pro-inflammatory and chemotactic cytokines in cystathionine beta-synthase deficient homocystinuiia. Mol Genet Metab. 2011 103(4) 330-7. 

Yaghmeii R, et til. Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiency. Am J Med Genet. 2002 108(1) 57-63. 

Yap S, Naughten E. Homocystinuria due to cystathionine beta-synthase deficiency in Ireland 25 years experience of a newborn screened and treated population with reference to clinical outcome and biochemical control. J Inherit Metab Dis. 1998 21(7) 738-47. 

Yap S, et aL Vascular outcome in patients with homocystinuria due to cystathionine beta-synthase deficiency treated chronically a multicenter observational study. Arterioscler Thromb Vase Biol. 2001 21(12) 2080-5. 

---