[HTML][HTML] A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that …
KN Maclean, J Sikora, V Kožich, H Jiang… - Molecular Genetics and …, 2010 - Elsevier
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, if untreated, results in mental retardation, thromboembolic
complications, and a range of connective tissue disorders. The molecular mechanisms that
underlie the pathology of this disease are poorly understood. We report here the generation …
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, if untreated, results in mental retardation, thromboembolic
complications, and a range of connective tissue disorders. The molecular mechanisms that
underlie the pathology of this disease are poorly understood. We report here the generation …