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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. 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 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: maclean kn. 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
84 results