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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

185 related articles for article (PubMed ID: 17352495)

  • 21. Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.
    Kozich V; Sokolová J; Klatovská V; Krijt J; Janosík M; Jelínek K; Kraus JP
    Hum Mutat; 2010 Jul; 31(7):809-19. PubMed ID: 20506325
    [TBL] [Abstract][Full Text] [Related]  

  • 22. High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands.
    Karaca M; Hismi B; Ozgul RK; Karaca S; Yilmaz DY; Coskun T; Sivri HS; Tokatli A; Dursun A
    Gene; 2014 Jan; 534(2):197-203. PubMed ID: 24211323
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Structural insights into mutations of cystathionine beta-synthase.
    Meier M; Oliveriusova J; Kraus JP; Burkhard P
    Biochim Biophys Acta; 2003 Apr; 1647(1-2):206-13. PubMed ID: 12686134
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system.
    de Franchis R; Kozich V; McInnes RR; Kraus JP
    Hum Mol Genet; 1994 Jul; 3(7):1103-8. PubMed ID: 7981678
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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; 45(36):11021-9. PubMed ID: 16953589
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Inter-domain communication of human cystathionine β-synthase: structural basis of S-adenosyl-L-methionine activation.
    McCorvie TJ; Kopec J; Hyung SJ; Fitzpatrick F; Feng X; Termine D; Strain-Damerell C; Vollmar M; Fleming J; Janz JM; Bulawa C; Yue WW
    J Biol Chem; 2014 Dec; 289(52):36018-30. PubMed ID: 25336647
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Correction of disease-causing CBS mutations in yeast.
    Shan X; Kruger WD
    Nat Genet; 1998 May; 19(1):91-3. PubMed ID: 9590298
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Redox regulation and reaction mechanism of human cystathionine-beta-synthase: a PLP-dependent hemesensor protein.
    Banerjee R; Zou CG
    Arch Biochem Biophys; 2005 Jan; 433(1):144-56. PubMed ID: 15581573
    [TBL] [Abstract][Full Text] [Related]  

  • 29. The role of cystathionine beta-synthase in homocysteine metabolism.
    Jhee KH; Kruger WD
    Antioxid Redox Signal; 2005; 7(5-6):813-22. PubMed ID: 15890029
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient.
    Kluijtmans LA; Boers GH; Stevens EM; Renier WO; Kraus JP; Trijbels FJ; van den Heuvel LP; Blom HJ
    J Clin Invest; 1996 Jul; 98(2):285-9. PubMed ID: 8755636
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Reaction mechanism and regulation of cystathionine beta-synthase.
    Banerjee R; Evande R; Kabil O; Ojha S; Taoka S
    Biochim Biophys Acta; 2003 Apr; 1647(1-2):30-5. PubMed ID: 12686104
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Rescue of cystathionine beta-synthase (CBS) mutants with chemical chaperones: purification and characterization of eight CBS mutant enzymes.
    Majtan T; Liu L; Carpenter JF; Kraus JP
    J Biol Chem; 2010 May; 285(21):15866-73. PubMed ID: 20308073
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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; 481(8):569-585. PubMed ID: 38563463
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Effects of heme ligand mutations including a pathogenic variant, H65R, on the properties of human cystathionine beta-synthase.
    Ojha S; Wu J; LoBrutto R; Banerjee R
    Biochemistry; 2002 Apr; 41(14):4649-54. PubMed ID: 11926827
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Komrower Lecture. Molecular basis of phenotype expression in homocystinuria.
    Kraus JP
    J Inherit Metab Dis; 1994; 17(4):383-90. PubMed ID: 7967489
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Visualization of PLP-bound intermediates in hemeless variants of human cystathionine beta-synthase: evidence that lysine 119 is a general base.
    Evande R; Ojha S; Banerjee R
    Arch Biochem Biophys; 2004 Jul; 427(2):188-96. PubMed ID: 15196993
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Cystathionine beta-synthase mutations in homocystinuria.
    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
    Hum Mutat; 1999; 13(5):362-75. PubMed ID: 10338090
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones.
    Kopecká J; Krijt J; Raková K; Kožich V
    J Inherit Metab Dis; 2011 Feb; 34(1):39-48. PubMed ID: 20490928
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria.
    Dawson PA; Cox AJ; Emmerson BT; Dudman NP; Kraus JP; Gordon RB
    Eur J Hum Genet; 1997; 5(1):15-21. PubMed ID: 9156316
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.