These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients. Mendes MI, Colaço HG, Smith DE, Ramos RJ, Pop A, van Dooren SJ, Tavares de Almeida I, Kluijtmans LA, Janssen MC, Rivera I, Salomons GS, Leandro P, Blom HJ. J Inherit Metab Dis; 2014 Mar; 37(2):245-54. PubMed ID: 23974653 [Abstract] [Full Text] [Related]
3. Kinetic stability of cystathionine beta-synthase can be modulated by structural analogs of S-adenosylmethionine: Potential approach to pharmacological chaperone therapy for homocystinuria. Majtan T, Pey AL, Kraus JP. Biochimie; 2016 Jul; 126():6-13. PubMed ID: 26805382 [Abstract] [Full Text] [Related]
9. Characterization of two pathogenic mutations in cystathionine beta-synthase: different intracellular locations for wild-type and mutant proteins. Casique L, Kabil O, Banerjee R, Martinez JC, De Lucca M. Gene; 2013 Nov 15; 531(1):117-24. PubMed ID: 23981774 [Abstract] [Full Text] [Related]
10. The role of cystathionine beta-synthase in homocysteine metabolism. Jhee KH, Kruger WD. Antioxid Redox Signal; 2005 Nov 15; 7(5-6):813-22. PubMed ID: 15890029 [Abstract] [Full Text] [Related]
11. Mutations in the regulatory domain of cystathionine beta synthase can functionally suppress patient-derived mutations in cis. Shan X, Dunbrack RL, Christopher SA, Kruger WD. Hum Mol Genet; 2001 Mar 15; 10(6):635-43. PubMed ID: 11230183 [Abstract] [Full Text] [Related]
14. A pathogenic linked mutation in the catalytic core of human cystathionine beta-synthase disrupts allosteric regulation and allows kinetic characterization of a full-length dimer. Sen S, Banerjee R. Biochemistry; 2007 Apr 03; 46(13):4110-6. PubMed ID: 17352495 [Abstract] [Full Text] [Related]
15. Cellular turnover and degradation of the most common missense cystathionine beta-synthase variants causing homocystinuria. Mijatovic E, Ascenção K, Szabo C, Majtan T. Protein Sci; 2024 Aug 03; 33(8):e5123. PubMed ID: 39041895 [Abstract] [Full Text] [Related]
16. Redox regulation and reaction mechanism of human cystathionine-beta-synthase: a PLP-dependent hemesensor protein. Banerjee R, Zou CG. Arch Biochem Biophys; 2005 Jan 01; 433(1):144-56. PubMed ID: 15581573 [Abstract] [Full Text] [Related]
17. Biochemical and structural impact of two novel missense mutations in cystathionine β-synthase gene associated with homocystinuria. Al-Sadeq DW, Conter C, Thanassoulas A, Al-Dewik N, Safieh-Garabedian B, Martínez-Cruz LA, Nasrallah GK, Astegno A, Nomikos M. Biochem J; 2024 Apr 24; 481(8):569-585. PubMed ID: 38563463 [Abstract] [Full Text] [Related]
18. A Clinically Relevant Variant of the Human Hydrogen Sulfide-Synthesizing Enzyme Cystathionine β-Synthase: Increased CO Reactivity as a Novel Molecular Mechanism of Pathogenicity? Vicente JB, Colaço HG, Malagrinò F, Santo PE, Gutierres A, Bandeiras TM, Leandro P, Brito JA, Giuffrè A. Oxid Med Cell Longev; 2017 Apr 24; 2017():8940321. PubMed ID: 28421128 [Abstract] [Full Text] [Related]
19. Solvent-accessible cysteines in human cystathionine beta-synthase: crucial role of cysteine 431 in S-adenosyl-L-methionine binding. Frank N, Kery V, Maclean KN, Kraus JP. Biochemistry; 2006 Sep 12; 45(36):11021-9. PubMed ID: 16953589 [Abstract] [Full Text] [Related]
20. Assignment of enzymatic functions to specific regions of the PLP-dependent heme protein cystathionine beta-synthase. Taoka S, Widjaja L, Banerjee R. Biochemistry; 1999 Oct 05; 38(40):13155-61. PubMed ID: 10529187 [Abstract] [Full Text] [Related] Page: [Next] [New Search]