238 related articles for article (PubMed ID: 23974653)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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; 10(6):635-43. PubMed ID: 11230183
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. 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]
14. 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]
15. 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]
16. Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria.
Orendáè M; Pronicka E; Kubalska J; Janosik M; Sokolová J; Linnebank M; Koch HG; Kozich V
Hum Mutat; 2004 Jun; 23(6):631. PubMed ID: 15146473
[TBL] [Abstract][Full Text] [Related]
17. Novel cystathionine β-synthase gene mutations in a Filipino patient with classic homocystinuria.
Silao CL; Fabella TD; Rama KI; Estrada SC
Pediatr Int; 2015 Oct; 57(5):884-7. PubMed ID: 25939784
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.
Kruger WD; Wang L; Jhee KH; Singh RH; Elsas LJ
Hum Mutat; 2003 Dec; 22(6):434-41. PubMed ID: 14635102
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
