255 related articles for article (PubMed ID: 11359213)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.
Poloni S; Sperb-Ludwig F; Borsatto T; Weber Hoss G; Doriqui MJR; Embiruçu EK; Boa-Sorte N; Marques C; Kim CA; Fischinger Moura de Souza C; Rocha H; Ribeiro M; Steiner CE; Moreno CA; Bernardi P; Valadares E; Artigalas O; Carvalho G; Wanderley HYC; Kugele J; Walter M; Gallego-Villar L; Blom HJ; Schwartz IVD
Mol Genet Genomic Med; 2018 Mar; 6(2):160-170. PubMed ID: 29352562
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles.
Sokolová J; Janosíková B; Terwilliger JD; Freiberger T; Kraus JP; Kozich V
Hum Mutat; 2001 Dec; 18(6):548-9. PubMed ID: 11748855
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.
Sebastio G; Sperandeo MP; Panico M; de Franchis R; Kraus JP; Andria G
Am J Hum Genet; 1995 Jun; 56(6):1324-33. PubMed ID: 7762555
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. 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]
17. 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]
18. 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]
19. The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment.
Kluijtmans LA; Boers GH; Kraus JP; van den Heuvel LP; Cruysberg JR; Trijbels FJ; Blom HJ
Am J Hum Genet; 1999 Jul; 65(1):59-67. PubMed ID: 10364517
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]