256 related articles for article (PubMed ID: 9590298)
21. Characterization of cystathionine beta-synthase gene mutations in homocystinuric Venezuelan patients: identification of one novel mutation in exon 6.
De Lucca M; Casique L
Mol Genet Metab; 2004 Mar; 81(3):209-15. PubMed ID: 14972327
[TBL] [Abstract][Full Text] [Related]
22. Molecular analysis of homocystinuria in Brazilian patients.
Porto MP; Galdieri LC; Pereira VG; Vergani N; da Rocha JC; Micheletti C; Martins AM; Perez AB; Almeida VD
Clin Chim Acta; 2005 Dec; 362(1-2):71-8. PubMed ID: 15993874
[TBL] [Abstract][Full Text] [Related]
23. DNA methylation status is not impaired in treated cystathionine beta-synthase (CBS) deficient patients.
Heil SG; Riksen NP; Boers GH; Smulders Y; Blom HJ
Mol Genet Metab; 2007 May; 91(1):55-60. PubMed ID: 17336565
[TBL] [Abstract][Full Text] [Related]
24. High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia.
Bermúdez M; Frank N; Bernal J; Urreizti R; Briceño I; Merinero B; Perez-Cerdá C; Ugarte M; Grinberg D; Balcells S; Kraus JP
Hum Mutat; 2006 Mar; 27(3):296. PubMed ID: 16470595
[TBL] [Abstract][Full Text] [Related]
25. [Disruption of amino acid metabolism in astrocyte and neurological disorders--possible implication of abnormal glia-neuron network in homocystineuria].
Enokido Y
Brain Nerve; 2007 Jul; 59(7):731-7. PubMed ID: 17663144
[TBL] [Abstract][Full Text] [Related]
26. Solvent-accessible cysteines in human cystathionine beta-synthase: crucial role of cysteine 431 in S-adenosyl-L-methionine binding.
Frank N; Kery V; Maclean KN; Kraus JP
Biochemistry; 2006 Sep; 45(36):11021-9. PubMed ID: 16953589
[TBL] [Abstract][Full Text] [Related]
27. Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.
Cozar M; Urreizti R; Vilarinho L; Grosso C; Dodelson de Kremer R; Asteggiano CG; Dalmau J; García AM; Vilaseca MA; Grinberg D; Balcells S
Hum Mutat; 2011 Jul; 32(7):835-42. PubMed ID: 21520339
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. Intermediate and severe hyperhomocysteinemia with thrombosis: a study of genetic determinants.
Gaustadnes M; Rüdiger N; Rasmussen K; Ingerslev J
Thromb Haemost; 2000 Apr; 83(4):554-8. PubMed ID: 10780316
[TBL] [Abstract][Full Text] [Related]
30. The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype.
Linnebank M; Janosik M; Kozich V; Pronicka E; Kubalska J; Sokolova J; Linnebank A; Schmidt E; Leyendecker C; Klockgether T; Kraus JP; Koch HG
Hum Mutat; 2004 Oct; 24(4):352-3. PubMed ID: 15365998
[TBL] [Abstract][Full Text] [Related]
31. A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari population.
El-Said MF; Badii R; Bessisso MS; Shahbek N; El-Ali MG; El-Marikhie M; El-Zyoid M; Salem MS; Bener A; Hoffmann GF; Zschocke J
Hum Mutat; 2006 Jul; 27(7):719. PubMed ID: 16786517
[TBL] [Abstract][Full Text] [Related]
32. The role of cystathionine beta-synthase in homocysteine metabolism.
Jhee KH; Kruger WD
Antioxid Redox Signal; 2005; 7(5-6):813-22. PubMed ID: 15890029
[TBL] [Abstract][Full Text] [Related]
33. Human cystathionine beta-synthase is a target for sumoylation.
Kabil O; Zhou Y; Banerjee R
Biochemistry; 2006 Nov; 45(45):13528-36. PubMed ID: 17087506
[TBL] [Abstract][Full Text] [Related]
34. Relation between plasma homocysteine concentration, the 844ins68 variant of the cystathionine beta-synthase gene, and pyridoxal-5'-phosphate concentration.
Tsai MY; Yang F; Bignell M; Aras O; Hanson NQ
Mol Genet Metab; 1999 Aug; 67(4):352-6. PubMed ID: 10444346
[TBL] [Abstract][Full Text] [Related]
35. Molecular genetic analysis of pyridoxine-nonresponsive homocystinuric siblings with different blood methionine levels during the neonatal period.
Chen S; Ito M; Saijo T; Naito E; Kuroda Y
J Med Invest; 1999 Aug; 46(3-4):186-91. PubMed ID: 10687314
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. 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]
38. Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria.
Zaidi SH; Faiyaz-Ul-Haque M; Shuaib T; Balobaid A; Rahbeeni Z; Abalkhail H; Al-Abdullatif A; Al-Hassnan Z; Peltekova I; Al-Owain M
Clin Genet; 2012 Jun; 81(6):563-70. PubMed ID: 21517828
[TBL] [Abstract][Full Text] [Related]
39. The influence of genetic and environmental factors on plasma homocysteine concentrations in a population at high risk for coronary artery disease.
Bowron A; Scott J; Stansbie D
Ann Clin Biochem; 2005 Nov; 42(Pt 6):459-62. PubMed ID: 16259797
[TBL] [Abstract][Full Text] [Related]
40. Long-term functional correction of cystathionine β-synthase deficiency in mice by adeno-associated viral gene therapy.
Lee HO; Salami CO; Sondhi D; Kaminsky SM; Crystal RG; Kruger WD
J Inherit Metab Dis; 2021 Nov; 44(6):1382-1392. PubMed ID: 34528713
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
