221 related articles for article (PubMed ID: 30408270)
21. 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]
22. 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]
23. 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]
24. The Spectrum of Mutations of Homocystinuria in the MENA Region.
Al-Sadeq DW; Nasrallah GK
Genes (Basel); 2020 Mar; 11(3):. PubMed ID: 32245022
[TBL] [Abstract][Full Text] [Related]
25. A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene.
Kruger WD; Cox DR
Hum Mol Genet; 1995 Jul; 4(7):1155-61. PubMed ID: 8528202
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. 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]
28. Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria.
Lee SJ; Lee DH; Yoo HW; Koo SK; Park ES; Park JW; Lim HG; Jung SC
J Hum Genet; 2005; 50(12):648-54. PubMed ID: 16205833
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. Derangement of hepatic polyamine, folate, and methionine cycle metabolism in cystathionine beta-synthase-deficient homocystinuria in the presence and absence of treatment: Possible implications for pathogenesis.
Maclean KN; Jiang H; Phinney WN; Mclagan BM; Roede JR; Stabler SP
Mol Genet Metab; 2021 Feb; 132(2):128-138. PubMed ID: 33483253
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. Cystathionine β-synthase deficiency: Of mice and men.
Kruger WD
Mol Genet Metab; 2017 Jul; 121(3):199-205. PubMed ID: 28583326
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. The effect of dietary modulation of sulfur amino acids on cystathionine β synthase-deficient mice.
Kruger WD; Gupta S
Ann N Y Acad Sci; 2016 Jan; 1363(1):80-90. PubMed ID: 26599618
[TBL] [Abstract][Full Text] [Related]
35. Neurodevelopmental and Cognitive Outcomes of Classical Homocystinuria: Experience from Qatar.
El Bashir H; Dekair L; Mahmoud Y; Ben-Omran T
JIMD Rep; 2015; 21():89-95. PubMed ID: 25712383
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine treatment.
Maclean KN; Sikora J; Kožich V; Jiang H; Greiner LS; Kraus E; Krijt J; Overdier KH; Collard R; Brodsky GL; Meltesen L; Crnic LS; Allen RH; Stabler SP; Elleder M; Rozen R; Patterson D; Kraus JP
Mol Genet Metab; 2010; 101(2-3):153-62. PubMed ID: 20638879
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. Pyridoxine non-responsive p.R336C mutation alters the molecular properties of cystathionine beta-synthase leading to severe homocystinuria phenotype.
Al-Sadeq DW; Thanassoulas A; Islam Z; Kolatkar P; Al-Dewik N; Safieh-Garabedian B; Nasrallah GK; Nomikos M
Biochim Biophys Acta Gen Subj; 2022 Jul; 1866(7):130148. PubMed ID: 35417765
[No Abstract] [Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]
