[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 …
that if untreated typically results in mental retardation, thromboembolism and a range of …
[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 …
serine to cystathionine, which is then hydrolyzed to cysteine by cystathionine gamma-lyase …
Expression of mutant human cystathionine β-synthase rescues neonatal lethality but not homocystinuria in a mouse model
L Wang, X Chen, B Tang, X Hua… - Human molecular …, 2005 - academic.oup.com
Cystathionine β-synthase (CBS) deficiency is a recessive genetic disorder in humans
characterized by elevated levels of total plasma homocysteine (tHcy) and frequent …
characterized by elevated levels of total plasma homocysteine (tHcy) and frequent …
Cystathionine β‐synthase p. S466L mutation causes hyperhomocysteinemia in mice
S Gupta, L Wang, X Hua, J Krijt, V Kožich… - Human …, 2008 - Wiley Online Library
Missense mutations in the cystathionine β‐synthase (CBS) gene are the most common
cause of clinical homocystinuria in humans. The p. S466L mutation was identified in a …
cause of clinical homocystinuria in humans. The p. S466L mutation was identified in a …
Neutral aminoaciduria in cystathionine β-synthase-deficient mice, an animal model of homocystinuria
N Akahoshi, S Kamata, M Kubota… - American Journal …, 2014 - journals.physiology.org
The kidney is one of the major loci for the expression of cystathionine β-synthase (CBS) and
cystathionine γ-lyase (CTH). While CBS-deficient (Cbs−/−) mice display homocysteinemia …
cystathionine γ-lyase (CTH). While CBS-deficient (Cbs−/−) mice display homocysteinemia …
[HTML][HTML] Enzyme replacement prevents neonatal death, liver damage, and osteoporosis in murine homocystinuria
T Majtan, H Hůlková, I Park, J Krijt, V Kožich… - The FASEB …, 2017 - ncbi.nlm.nih.gov
Classical homocystinuria (HCU) is an inborn error of sulfur amino acid metabolism caused
by deficient activity of cystathionine β-synthase (CBS), resulting in an accumulation of …
by deficient activity of cystathionine β-synthase (CBS), resulting in an accumulation of …
[HTML][HTML] Behavior, body composition, and vascular phenotype of homocystinuric mice on methionine-restricted diet or enzyme replacement therapy
T Majtan, I Park, A Cox, BR Branchford… - The FASEB …, 2019 - ncbi.nlm.nih.gov
Classic homocystinuria (HCU) is an inherited disorder characterized by elevated
homocysteine (Hcy) in plasma and tissues resulting from cystathionine β-synthase (CBS) …
homocysteine (Hcy) in plasma and tissues resulting from cystathionine β-synthase (CBS) …
Long-term betaine therapy in a murine model of cystathionine beta-synthase deficient homocystinuria: decreased efficacy over time reveals a significant threshold …
KN Maclean, H Jiang, LS Greiner, RH Allen… - Molecular genetics and …, 2012 - Elsevier
Classical homocystinuria (HCU) is caused by deficiency of cystathionine β-synthase and is
characterized by connective tissue disturbances, mental retardation and cardiovascular …
characterized by connective tissue disturbances, mental retardation and cardiovascular …
Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionineβ-synthase mutations
MP Sperandeo, M Candito, G Sebastio… - Journal of inherited …, 1996 - Springer
Fasting and post-methionine load plasma total homocysteine concentrations were
investigated in the parents of two homocystinuric patients. Three genetic mutations in the …
investigated in the parents of two homocystinuric patients. Three genetic mutations in the …
[HTML][HTML] Altered hepatic sulfur metabolism in cystathionine β-synthase-deficient homocystinuria: regulatory role of taurine on competing cysteine oxidation pathways
H Jiang, SP Stabler, RH Allen, SH Abman… - The FASEB …, 2014 - ncbi.nlm.nih.gov
Cystathionine β-synthase-deficient homocystinuria (HCU) is a serious life-threatening inborn
error of sulfur metabolism with poorly understood pathogenic mechanisms. We investigated …
error of sulfur metabolism with poorly understood pathogenic mechanisms. We investigated …