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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. Maclean KN, et al. Among authors: stabler sp. Mol Genet Metab. 2010 Oct-Nov;101(2-3):153-62. doi: 10.1016/j.ymgme.2010.06.010. Epub 2010 Jun 23. Mol Genet Metab. 2010. PMID: 20638879 Free PMC article.
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. Maclean KN, et al. Among authors: stabler sp. Mol Genet Metab. 2010 Oct-Nov;101(2-3):163-71. doi: 10.1016/j.ymgme.2010.06.007. Epub 2010 Jun 22. Mol Genet Metab. 2010. PMID: 20638882 Free PMC article.
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. Jacobs RL, et al. Among authors: stabler sp. Mol Genet Metab. 2017 Apr;120(4):325-336. doi: 10.1016/j.ymgme.2017.02.010. Epub 2017 Mar 2. Mol Genet Metab. 2017. PMID: 28291718
Taurine treatment prevents derangement of the hepatic γ-glutamyl cycle and methylglyoxal metabolism in a mouse model of classical homocystinuria: regulatory crosstalk between thiol and sulfinic acid metabolism.
Maclean KN, Jiang H, Aivazidis S, Kim E, Shearn CT, Harris PS, Petersen DR, Allen RH, Stabler SP, Roede JR. Maclean KN, et al. Among authors: stabler sp. FASEB J. 2018 Mar;32(3):1265-1280. doi: 10.1096/fj.201700586R. Epub 2018 Jan 3. FASEB J. 2018. PMID: 29101223
219 results