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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

141 related items for PubMed ID: 38563463

  • 1. 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]

  • 2. 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]

  • 3. Allosteric communication between the pyridoxal 5'-phosphate (PLP) and heme sites in the H2S generator human cystathionine β-synthase.
    Yadav PK, Xie P, Banerjee R.
    J Biol Chem; 2012 Nov 02; 287(45):37611-20. PubMed ID: 22977242
    [Abstract] [Full Text] [Related]

  • 4. Disease-causing cystathionine β-synthase linker mutations impair allosteric regulation.
    Roman JV, Mascarenhas R, Ceric K, Ballou DP, Banerjee R.
    J Biol Chem; 2023 Dec 02; 299(12):105449. PubMed ID: 37949228
    [Abstract] [Full Text] [Related]

  • 5. 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 02; 37(2):245-54. PubMed ID: 23974653
    [Abstract] [Full Text] [Related]

  • 6. The role of cystathionine beta-synthase in homocysteine metabolism.
    Jhee KH, Kruger WD.
    Antioxid Redox Signal; 2005 Mar 02; 7(5-6):813-22. PubMed ID: 15890029
    [Abstract] [Full Text] [Related]

  • 7. Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria.
    Janosík M, Oliveriusová J, Janosíková B, Sokolová J, Kraus E, Kraus JP, Kozich V.
    Am J Hum Genet; 2001 Jun 02; 68(6):1506-13. PubMed ID: 11359213
    [Abstract] [Full Text] [Related]

  • 8. Mouse modeling and structural analysis of the p.G307S mutation in human cystathionine β-synthase (CBS) reveal effects on CBS activity but not stability.
    Gupta S, Kelow S, Wang L, Andrake MD, Dunbrack RL, Kruger WD.
    J Biol Chem; 2018 Sep 07; 293(36):13921-13931. PubMed ID: 30030379
    [Abstract] [Full Text] [Related]

  • 9. Deletion of the regulatory domain in the pyridoxal phosphate-dependent heme protein cystathionine beta-synthase alleviates the defect observed in a catalytic site mutant.
    Kabil O, Banerjee R.
    J Biol Chem; 1999 Oct 29; 274(44):31256-60. PubMed ID: 10531322
    [Abstract] [Full Text] [Related]

  • 10. 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 Oct 29; 2017():8940321. PubMed ID: 28421128
    [Abstract] [Full Text] [Related]

  • 11. Insights into the regulatory domain of cystathionine Beta-synthase: characterization of six variant proteins.
    Mendes MI, Santos AS, Smith DE, Lino PR, Colaço HG, de Almeida IT, Vicente JB, Salomons GS, Rivera I, Blom HJ, Leandro P.
    Hum Mutat; 2014 Oct 29; 35(10):1195-202. PubMed ID: 25044645
    [Abstract] [Full Text] [Related]

  • 12. Human cystathionine β-synthase (CBS) contains two classes of binding sites for S-adenosylmethionine (SAM): complex regulation of CBS activity and stability by SAM.
    Pey AL, Majtan T, Sanchez-Ruiz JM, Kraus JP.
    Biochem J; 2013 Jan 01; 449(1):109-21. PubMed ID: 22985361
    [Abstract] [Full Text] [Related]

  • 13. Structural insights into mutations of cystathionine beta-synthase.
    Meier M, Oliveriusova J, Kraus JP, Burkhard P.
    Biochim Biophys Acta; 2003 Apr 11; 1647(1-2):206-13. PubMed ID: 12686134
    [Abstract] [Full Text] [Related]

  • 14. 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 25; 534(2):197-203. PubMed ID: 24211323
    [Abstract] [Full Text] [Related]

  • 15. Potential Pharmacological Chaperones for Cystathionine Beta-Synthase-Deficient Homocystinuria.
    Majtan T, Pey AL, Gimenez-Mascarell P, Martínez-Cruz LA, Szabo C, Kožich V, Kraus JP.
    Handb Exp Pharmacol; 2018 Jan 25; 245():345-383. PubMed ID: 29119254
    [Abstract] [Full Text] [Related]

  • 16. 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 21; 285(21):15866-73. PubMed ID: 20308073
    [Abstract] [Full Text] [Related]

  • 17. Real-time detection of enzymatically formed hydrogen sulfide by pathogenic variants of cystathionine beta-synthase using hemoglobin I of Lucina pectinata as a biosensor.
    Myszkowska J, Klotz K, Leandro P, Kruger WD, Froese DS, Baumgartner MR, Spiekerkoetter U, Hannibal L.
    Free Radic Biol Med; 2024 Oct 21; 223():281-295. PubMed ID: 39067625
    [Abstract] [Full Text] [Related]

  • 18. 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 15; 98(2):285-9. PubMed ID: 8755636
    [Abstract] [Full Text] [Related]

  • 19. Effect of the disease-causing R266K mutation on the heme and PLP environments of human cystathionine β-synthase.
    Smith AT, Su Y, Stevens DJ, Majtan T, Kraus JP, Burstyn JN.
    Biochemistry; 2012 Aug 14; 51(32):6360-70. PubMed ID: 22738154
    [Abstract] [Full Text] [Related]

  • 20. 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 14; 126():6-13. PubMed ID: 26805382
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 8.