294 related articles for article (PubMed ID: 29119254)
21. Structural basis of regulation and oligomerization of human cystathionine β-synthase, the central enzyme of transsulfuration.
Ereño-Orbea J; Majtan T; Oyenarte I; Kraus JP; Martínez-Cruz LA
Proc Natl Acad Sci U S A; 2013 Oct; 110(40):E3790-9. PubMed ID: 24043838
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. 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]
24. 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]
25. Analysis of the Qatari R336C cystathionine β-synthase protein in mice.
Gupta S; Gallego-Villar L; Wang L; Lee HO; Nasrallah G; Al-Dewik N; Häberle J; Thöny B; Blom HJ; Ben-Omran T; Kruger WD
J Inherit Metab Dis; 2019 Sep; 42(5):831-838. PubMed ID: 31240737
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. Enzyme replacement prevents neonatal death, liver damage, and osteoporosis in murine homocystinuria.
Majtan T; Hůlková H; Park I; Krijt J; Kožich V; Bublil EM; Kraus JP
FASEB J; 2017 Dec; 31(12):5495-5506. PubMed ID: 28821635
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. 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]
30. 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]
31. 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]
32. Cystathionine beta-synthase deficiency alters hepatic phospholipid and choline metabolism: Post-translational repression of phosphatidylethanolamine N-methyltransferase is a consequence rather than a cause of liver injury in homocystinuria.
Jacobs RL; Jiang H; Kennelly JP; Orlicky DJ; Allen RH; Stabler SP; Maclean KN
Mol Genet Metab; 2017 Apr; 120(4):325-336. PubMed ID: 28291718
[TBL] [Abstract][Full Text] [Related]
33. Structural insight into the molecular mechanism of allosteric activation of human cystathionine β-synthase by S-adenosylmethionine.
Ereño-Orbea J; Majtan T; Oyenarte I; Kraus JP; Martínez-Cruz LA
Proc Natl Acad Sci U S A; 2014 Sep; 111(37):E3845-52. PubMed ID: 25197074
[TBL] [Abstract][Full Text] [Related]
34. 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]
35. Disease-causing cystathionine β-synthase linker mutations impair allosteric regulation.
Roman JV; Mascarenhas R; Ceric K; Ballou DP; Banerjee R
J Biol Chem; 2023 Dec; 299(12):105449. PubMed ID: 37949228
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. 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]
38. Long-term betaine therapy in a murine model of cystathionine beta-synthase deficient homocystinuria: decreased efficacy over time reveals a significant threshold effect between elevated homocysteine and thrombotic risk.
Maclean KN; Jiang H; Greiner LS; Allen RH; Stabler SP
Mol Genet Metab; 2012 Mar; 105(3):395-403. PubMed ID: 22192524
[TBL] [Abstract][Full Text] [Related]
39. Redox regulation and reaction mechanism of human cystathionine-beta-synthase: a PLP-dependent hemesensor protein.
Banerjee R; Zou CG
Arch Biochem Biophys; 2005 Jan; 433(1):144-56. PubMed ID: 15581573
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]
