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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
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,...
Autores principales: | 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. |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Academic Press
2010
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2954364/ https://www.ncbi.nlm.nih.gov/pubmed/20638879 http://dx.doi.org/10.1016/j.ymgme.2010.06.010 |
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