231 related articles for article (PubMed ID: 20308073)
1. 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]
2. 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]
3. Conformational properties of nine purified cystathionine β-synthase mutants.
Hnízda A; Majtan T; Liu L; Pey AL; Carpenter JF; Kodíček M; Kožich V; Kraus JP
Biochemistry; 2012 Jun; 51(23):4755-63. PubMed ID: 22612060
[TBL] [Abstract][Full Text] [Related]
4. Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate.
Melenovská P; Kopecká J; Krijt J; Hnízda A; Raková K; Janošík M; Wilcken B; Kožich V
J Inherit Metab Dis; 2015 Mar; 38(2):287-94. PubMed ID: 25331909
[TBL] [Abstract][Full Text] [Related]
5. High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.
Maclean KN; Gaustadnes M; Oliveriusová J; Janosík M; Kraus E; Kozich V; Kery V; Skovby F; Rüdiger N; Ingerslev J; Stabler SP; Allen RH; Kraus JP
Hum Mutat; 2002 Jun; 19(6):641-55. PubMed ID: 12007221
[TBL] [Abstract][Full Text] [Related]
6. Genetic and Pharmacological Modulation of Cellular Proteostasis Leads to Partial Functional Rescue of Homocystinuria-Causing Cystathionine-Beta Synthase Variants.
Collard R; Majtan T
Mol Cell Biol; 2023; 43(12):664-674. PubMed ID: 38051092
[TBL] [Abstract][Full Text] [Related]
7. 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; 245():345-383. PubMed ID: 29119254
[TBL] [Abstract][Full Text] [Related]
8. 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; 68(6):1506-13. PubMed ID: 11359213
[TBL] [Abstract][Full Text] [Related]
9. 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
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. In silico and in vivo models for Qatari-specific classical homocystinuria as basis for development of novel therapies.
Ismail HM; Krishnamoorthy N; Al-Dewik N; Zayed H; Mohamed NA; Giacomo VD; Gupta S; Häberle J; Thöny B; Blom HJ; Kruger WD; Ben-Omran T; Nasrallah GK
Hum Mutat; 2019 Feb; 40(2):230-240. PubMed ID: 30408270
[TBL] [Abstract][Full Text] [Related]
12. Correction of cystathionine β-synthase deficiency in mice by treatment with proteasome inhibitors.
Gupta S; Wang L; Anderl J; Slifker MJ; Kirk C; Kruger WD
Hum Mutat; 2013 Aug; 34(8):1085-93. PubMed ID: 23592311
[TBL] [Abstract][Full Text] [Related]
13. 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; 531(1):117-24. PubMed ID: 23981774
[TBL] [Abstract][Full Text] [Related]
14. Regulation of human cystathionine beta-synthase by S-adenosyl-L-methionine: evidence for two catalytically active conformations involving an autoinhibitory domain in the C-terminal region.
Janosík M; Kery V; Gaustadnes M; Maclean KN; Kraus JP
Biochemistry; 2001 Sep; 40(35):10625-33. PubMed ID: 11524006
[TBL] [Abstract][Full Text] [Related]
15. Mouse modeling and structural analysis of the p.G307S mutation in human cystathionine β-synthase (
Gupta S; Kelow S; Wang L; Andrake MD; Dunbrack RL; Kruger WD
J Biol Chem; 2018 Sep; 293(36):13921-13931. PubMed ID: 30030379
[TBL] [Abstract][Full Text] [Related]
16. Folding and activity of mutant cystathionine β-synthase depends on the position and nature of the purification tag: characterization of the R266K CBS mutant.
Majtan T; Kraus JP
Protein Expr Purif; 2012 Apr; 82(2):317-24. PubMed ID: 22333527
[TBL] [Abstract][Full Text] [Related]
17. Targeting Cystathionine Beta-Synthase Misfolding in Homocystinuria by Small Ligands: State of the Art and Future Directions.
Majtan T; Pey AL; Ereño-Orbea J; Martínez-Cruz LA; Kraus JP
Curr Drug Targets; 2016; 17(13):1455-70. PubMed ID: 26931358
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. CBS gene mutations found in a Chinese pyridoxine-responsive homocystinuria patient.
Kwok JS; Fung SL; Lui GC; Law EL; Chan MH; Leung CB; Tang NL
Pathology; 2011 Jan; 43(1):81-3. PubMed ID: 21240075
[No Abstract] [Full Text] [Related]
[Next] [New Search]
