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

Cystathionine beta-synthase (CBS) catalyzes the condensation of homocysteine (Hcy) and serine to cystathionine, which is then hydrolyzed to cysteine by cystathionine gamma-lyase. Inactivation of CBS results in CBS-deficient homocystinuria more commonly referred to as classical homocystinuria, which,...

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Main Authors: Maclean, Kenneth N., Sikora, Jakub, Kožich, Viktor, Jiang, Hua, Greiner, Lori S., Kraus, Eva, Krijt, Jakub, Overdier, Katherine H., Collard, Renata, Brodsky, Gary L., Meltesen, Lynne, Crnic, Linda S., Allen, Robert H., Stabler, Sally P., Elleder, Milan, Rozen, Rima, Patterson, David, Kraus, Jan P.
Format: Artigo
Sprog:Inglês
Udgivet: Academic Press 2010
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2954364/
https://ncbi.nlm.nih.gov/pubmed/20638879
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2010.06.010
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