179 related articles for article (PubMed ID: 31084364)
21. 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]
22. Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria.
Majtan T; Jones W; Krijt J; Park I; Kruger WD; Kožich V; Bassnett S; Bublil EM; Kraus JP
Mol Ther; 2018 Mar; 26(3):834-844. PubMed ID: 29398487
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. 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]
25. Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.
Kruger WD; Wang L; Jhee KH; Singh RH; Elsas LJ
Hum Mutat; 2003 Dec; 22(6):434-41. PubMed ID: 14635102
[TBL] [Abstract][Full Text] [Related]
26. Protein arginine hypomethylation in a mouse model of cystathionine β-synthase deficiency.
Esse R; Imbard A; Florindo C; Gupta S; Quinlivan EP; Davids M; Teerlink T; Tavares de Almeida I; Kruger WD; Blom HJ; Castro R
FASEB J; 2014 Jun; 28(6):2686-95. PubMed ID: 24532665
[TBL] [Abstract][Full Text] [Related]
27. Mouse modeling and structural analysis of the p.G307S mutation in human cystathionine β-synthase (
Gupta S; Kelow S; Wang L; Andrake MD; Dunbrack RL; Kruger WD
J Biol Chem; 2018 Sep; 293(36):13921-13931. PubMed ID: 30030379
[TBL] [Abstract][Full Text] [Related]
28. Lack of global epigenetic methylation defects in CBS deficient mice.
Lee HO; Wang L; Kuo YM; Gupta S; Slifker MJ; Li YS; Andrews AJ; Kruger WD
J Inherit Metab Dis; 2017 Jan; 40(1):113-120. PubMed ID: 27444757
[TBL] [Abstract][Full Text] [Related]
29. Cystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in mice.
Gupta S; Wang L; Hua X; Krijt J; Kozich V; Kruger WD
Hum Mutat; 2008 Aug; 29(8):1048-54. PubMed ID: 18454451
[TBL] [Abstract][Full Text] [Related]
30. Hyperhomocysteinemia due to cystathionine beta synthase deficiency induces dysregulation of genes involved in hepatic lipid homeostasis in mice.
Hamelet J; Demuth K; Paul JL; Delabar JM; Janel N
J Hepatol; 2007 Jan; 46(1):151-9. PubMed ID: 17030070
[TBL] [Abstract][Full Text] [Related]
31. Correction of disease-causing CBS mutations in yeast.
Shan X; Kruger WD
Nat Genet; 1998 May; 19(1):91-3. PubMed ID: 9590298
[TBL] [Abstract][Full Text] [Related]
32. Variable hyperhomocysteinaemia phenotype in heterozygotes for the Gly307Ser mutation in cystathionine beta-synthase.
Dawson PA; Cochran DA; Emmerson BT; Kraus JP; Dudman NP; Gordon RB
Aust N Z J Med; 1996 Apr; 26(2):180-5. PubMed ID: 8744616
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. 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]
35. 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]
36. 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]
37. Deciphering pathophysiological mechanisms underlying cystathionine beta-synthase-deficient homocystinuria using targeted metabolomics, liver proteomics, sphingolipidomics and analysis of mitochondrial function.
Majtan T; Olsen T; Sokolova J; Krijt J; Křížková M; Ida T; Ditrói T; Hansikova H; Vit O; Petrak J; Kuchař L; Kruger WD; Nagy P; Akaike T; Kožich V
Redox Biol; 2024 Jul; 73():103222. PubMed ID: 38843767
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. Mice deficient in cystathionine beta synthase display altered homocysteine remethylation pathway.
Alberto JM; Hamelet J; Noll C; Blaise S; Bronowicki JP; Guéant JL; Delabar JM; Janel N
Mol Genet Metab; 2007 Aug; 91(4):396-8. PubMed ID: 17562377
[TBL] [Abstract][Full Text] [Related]
40. Neutral aminoaciduria in cystathionine β-synthase-deficient mice; an animal model of homocystinuria.
Akahoshi N; Kamata S; Kubota M; Hishiki T; Nagahata Y; Matsuura T; Yamazaki C; Yoshida Y; Yamada H; Ishizaki Y; Suematsu M; Kasahara T; Ishii I
Am J Physiol Renal Physiol; 2014 Jun; 306(12):F1462-76. PubMed ID: 24761004
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
