215 related articles for article (PubMed ID: 20638879)
1. 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]
2. Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment.
Maclean KN; Sikora J; Kožich V; Jiang H; Greiner LS; Kraus E; Krijt J; Crnic LS; Allen RH; Stabler SP; Elleder M; Kraus JP
Mol Genet Metab; 2010; 101(2-3):163-71. PubMed ID: 20638882
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Taurine alleviates repression of betaine-homocysteine
Maclean KN; Jiang H; Phinney WN; Keating AK; Hurt KJ; Stabler SP
FASEB J; 2019 May; 33(5):6339-6353. PubMed ID: 30768359
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Enzyme replacement with PEGylated cystathionine β-synthase ameliorates homocystinuria in murine model.
Bublil EM; Majtan T; Park I; Carrillo RS; Hůlková H; Krijt J; Kožich V; Kraus JP
J Clin Invest; 2016 Jun; 126(6):2372-84. PubMed ID: 27183385
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. Altered expression of apoA-I, apoA-IV and PON-1 activity in CBS deficient homocystinuria in the presence and absence of treatment: possible implications for cardiovascular outcomes.
Jiang H; Stabler SP; Allen RH; Maclean KN
Mol Genet Metab; 2012 Sep; 107(1-2):55-65. PubMed ID: 22633282
[TBL] [Abstract][Full Text] [Related]
11. Homocystinuria due to cystathionine beta-synthase deficiency--the effects of betaine treatment in pyridoxine-responsive patients.
Wilcken DE; Dudman NP; Tyrrell PA
Metabolism; 1985 Dec; 34(12):1115-21. PubMed ID: 3934499
[TBL] [Abstract][Full Text] [Related]
12. Homocystinuria: Therapeutic approach.
Kumar T; Sharma GS; Singh LR
Clin Chim Acta; 2016 Jul; 458():55-62. PubMed ID: 27059523
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Betaine supplementation is less effective than methionine restriction in correcting phenotypes of CBS deficient mice.
Gupta S; Wang L; Kruger WD
J Inherit Metab Dis; 2016 Jan; 39(1):39-46. PubMed ID: 26231230
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Methionine transamination in patients with homocystinuria due to cystathionine beta-synthase deficiency.
Tangerman A; Wilcken B; Levy HL; Boers GH; Mudd SH
Metabolism; 2000 Aug; 49(8):1071-7. PubMed ID: 10954028
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Recombinant adeno-associated virus mediated gene transfer in a mouse model for homocystinuria.
Park ES; Oh HJ; Kruger WD; Jung SC; Lee JS
Exp Mol Med; 2006 Dec; 38(6):652-61. PubMed ID: 17202841
[TBL] [Abstract][Full Text] [Related]
19. Cystathionine beta synthase deficiency promotes oxidative stress, fibrosis, and steatosis in mice liver.
Robert K; Nehmé J; Bourdon E; Pivert G; Friguet B; Delcayre C; Delabar JM; Janel N
Gastroenterology; 2005 May; 128(5):1405-15. PubMed ID: 15887121
[TBL] [Abstract][Full Text] [Related]
20. Cystathionine beta-synthase deficiency: effects of betaine supplementation after methionine restriction in B6-nonresponsive homocystinuria.
Singh RH; Kruger WD; Wang L; Pasquali M; Elsas LJ
Genet Med; 2004; 6(2):90-5. PubMed ID: 15017331
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]