[HTML][HTML] Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment
KN Maclean, J Sikora, V Kožich, H Jiang… - Molecular genetics and …, 2010 - Elsevier
Cystathionine beta-synthase (CBS) deficient homocystinuria is an inherited metabolic defect
that if untreated typically results in mental retardation, thromboembolism and a range of
connective tissue disturbances. A knockout mouse model has previously been used to
investigate pathogenic mechanisms in classical homocystinuria (Watanabe et al., PNAS 92
(1995) 1585–1589). This mouse model exhibits a semi-lethal phenotype and the majority of
mice do not survive the early neonatal period. We report here that the birth incidence of cbs …
that if untreated typically results in mental retardation, thromboembolism and a range of
connective tissue disturbances. A knockout mouse model has previously been used to
investigate pathogenic mechanisms in classical homocystinuria (Watanabe et al., PNAS 92
(1995) 1585–1589). This mouse model exhibits a semi-lethal phenotype and the majority of
mice do not survive the early neonatal period. We report here that the birth incidence of cbs …