231 related articles for article (PubMed ID: 20308073)
21. 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]
22. Chemical chaperone rescue of mutant human cystathionine beta-synthase.
Singh LR; Chen X; Kozich V; Kruger WD
Mol Genet Metab; 2007 Aug; 91(4):335-42. PubMed ID: 17540596
[TBL] [Abstract][Full Text] [Related]
23. Purification and characterization of the wild type and truncated human cystathionine beta-synthase enzymes expressed in E. coli.
Frank N; Kent JO; Meier M; Kraus JP
Arch Biochem Biophys; 2008 Feb; 470(1):64-72. PubMed ID: 18060852
[TBL] [Abstract][Full Text] [Related]
24. Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria.
Kim CE; Gallagher PM; Guttormsen AB; Refsum H; Ueland PM; Ose L; Folling I; Whitehead AS; Tsai MY; Kruger WD
Hum Mol Genet; 1997 Dec; 6(13):2213-21. PubMed ID: 9361025
[TBL] [Abstract][Full Text] [Related]
25. The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.
Gaustadnes M; Wilcken B; Oliveriusova J; McGill J; Fletcher J; Kraus JP; Wilcken DE
Hum Mutat; 2002 Aug; 20(2):117-26. PubMed ID: 12124992
[TBL] [Abstract][Full Text] [Related]
26. Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype.
de Franchis R; Kraus E; Kozich V; Sebastio G; Kraus JP
Hum Mutat; 1999; 13(6):453-7. PubMed ID: 10408774
[TBL] [Abstract][Full Text] [Related]
27. 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; 35(10):1195-202. PubMed ID: 25044645
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. 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]
30. Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency.
Kozich V; Kraus JP
Hum Mutat; 1992; 1(2):113-23. PubMed ID: 1301198
[TBL] [Abstract][Full Text] [Related]
31. Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model.
Wang L; Chen X; Tang B; Hua X; Klein-Szanto A; Kruger WD
Hum Mol Genet; 2005 Aug; 14(15):2201-8. PubMed ID: 15972722
[TBL] [Abstract][Full Text] [Related]
32. Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70.
Singh LR; Gupta S; Honig NH; Kraus JP; Kruger WD
PLoS Genet; 2010 Jan; 6(1):e1000807. PubMed ID: 20066033
[TBL] [Abstract][Full Text] [Related]
33. Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.
Hu FL; Gu Z; Kozich V; Kraus JP; Ramesh V; Shih VE
Hum Mol Genet; 1993 Nov; 2(11):1857-60. PubMed ID: 7506602
[TBL] [Abstract][Full Text] [Related]
34. 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; 449(1):109-21. PubMed ID: 22985361
[TBL] [Abstract][Full Text] [Related]
35. Recent therapeutic approaches to cystathionine beta-synthase-deficient homocystinuria.
Majtan T; Kožich V; Kruger WD
Br J Pharmacol; 2023 Feb; 180(3):264-278. PubMed ID: 36417581
[TBL] [Abstract][Full Text] [Related]
36. A Clinically Relevant Variant of the Human Hydrogen Sulfide-Synthesizing Enzyme Cystathionine
Vicente JB; Colaço HG; Malagrinò F; Santo PE; Gutierres A; Bandeiras TM; Leandro P; Brito JA; Giuffrè A
Oxid Med Cell Longev; 2017; 2017():8940321. PubMed ID: 28421128
[TBL] [Abstract][Full Text] [Related]
37. Contrasting behaviors of mutant cystathionine beta-synthase enzymes associated with pyridoxine response.
Chen X; Wang L; Fazlieva R; Kruger WD
Hum Mutat; 2006 May; 27(5):474-82. PubMed ID: 16619244
[TBL] [Abstract][Full Text] [Related]
38. The c.797 G>A (p.R266K) cystathionine β-synthase mutation causes homocystinuria by affecting protein stability.
Gupta S; Wang L; Kruger WD
Hum Mutat; 2017 Jul; 38(7):863-869. PubMed ID: 28488385
[TBL] [Abstract][Full Text] [Related]
39. Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts.
Hnízda A; Jurga V; Raková K; Kožich V
J Inherit Metab Dis; 2012 May; 35(3):469-77. PubMed ID: 22069143
[TBL] [Abstract][Full Text] [Related]
40. Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria.
Marble M; Geraghty MT; de Franchis R; Kraus JP; Valle D
Hum Mol Genet; 1994 Oct; 3(10):1883-6. PubMed ID: 7849717
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]