Any feedback?
Please rate this page
(enzyme.php)
(0/150)

BRENDA support

Disease on EC 2.5.1.48 - cystathionine gamma-synthase

Please use the Disease Search for a specific query.
Please wait a moment until all data is loaded. This message will disappear when all data is loaded.
DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Aberrant Crypt Foci
Dietary folate and selenium affect dimethylhydrazine-induced aberrant crypt formation, global DNA methylation and one-carbon metabolism in rats.
acyl-coa dehydrogenase deficiency
Vitamins and inherited human errors of metabolism.
Argininosuccinic Aciduria
Free amino acids in extracts of cultured skin fibroblasts from patients with various amino acid metabolic disorders.
Arteriosclerosis
Chemical pathology of homocysteine. V. Thioretinamide, thioretinaco, and cystathionine synthase function in degenerative diseases.
Heterozygosity for homocystinuria in premature peripheral and cerebral occlusive arterial disease.
Homocysteine and the pathogenesis of atherosclerosis.
Homocysteine Metabolism, Atherosclerosis, and Diseases of Aging.
Atherosclerosis
Failure to produce atherosclerosis in Macaca radiata on a high-methionine, high-fat, pyridoxine-deficient diet.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Vitamins and inherited human errors of metabolism.
Carcinogenesis
Deletion of serine dehydrase and cystathionine synthetase activities during azo-dye carcinogenesis.
Carcinoma, Hepatocellular
BWTG3 hepatoma cells can acquire phenylalanine hydroxylase, cystathionine synthase and CPS-I without genetic manipulation, but activation of the silent OTC gene requires cell fusion with hepatocytes.
Characterization of cystathionine synthase as a selectable, liver-specific trait in rat hepatomas.
Citrullinemia
Free amino acids in extracts of cultured skin fibroblasts from patients with various amino acid metabolic disorders.
cystathionine gamma-synthase deficiency
A study of cardiovascular risk in heterozygotes for homocystinuria.
Alternative methionine degradation via the transamination pathway: an option for therapy for homocystinuria due to cystathionine synthase deficiency.
Carriership for homocystinuria in juvenile vascular disease.
Cystathionine synthase deficiency: heterozygote detection using cultured skin fibroblasts.
Cystathionine-synthase-deficient patients do not use the transamination pathway of methionine to reduce hypermethioninemia and homocystinemia.
Delay in diagnosis of homocystinuria: retrospective study of consecutive patients.
Electroencephalographic abnormalities in homocystinuria due to cystathionine synthase deficiency.
Folate-responsive homocystinuria and "schizophrenia". A defect in methylation due to deficient 5,10-methylenetetrahydrofolate reductase activity.
Free amino acids in extracts of cultured skin fibroblasts from patients with various amino acid metabolic disorders.
Free amino acids in liver of patients with homocystinuria due to cystathionine synthase deficiency: effects of vitamin B6.
Genetic and nongenetic factors for moderate hyperhomocyst(e)inemia.
Heterozygosity for homocystinuria in premature peripheral and cerebral occlusive arterial disease.
Homocysteine and coronary artery disease.
Homocysteine and cysteine loads in patients with homocystinuria due to cystathionine synthase deficiency: effects of vitamin B-6.
Homocystinuria due to cystathionine synthase deficiency.
Homocystinuria due to cystathionine synthase deficiency. Studies of nitrogen balance and sulfur excretion.
Homocystinuria due to cystathionine synthase deficiency: clinical-roentgenologic correlations.
Homocystinuria due to cystathionine synthase deficiency: enzymatic and ultrastructural studies.
Homocystinuria due to cystathionine synthase deficiency: the effect of pyridoxine.
Homocystinuria due to cystathionine synthase deficiency: the metabolism of L-methionine.
HOMOCYSTINURIA DUE TO CYSTATHIONINE SYNTHETASE DEFICIENCY: THE MODE OF INHERITANCE.
Homocystinuria in New South Wales.
Homocystinuria: an observation on the inheritance of cystathionine synthase deficiency.
Hyperhomocysteinemia as a risk factor for arterial and venous disease. A review of evidence and relevance.
Improved identification of heterozygotes for homocystinuria due to cystathionine synthase deficiency by the combination of methionine loading and enzyme determination in cultured fibroblasts.
Inborn errors of sulfur-containing amino acid metabolism.
No sensory neuropathy during pyridoxine treatment in homocystinuria.
Plasma homocysteine in venous thromboembolism.
Platelet survival and morphology in homocystinuria due to cystathionine synthase deficiency.
Pyridoxine treatment does not prevent homocystinemia after methionine loading in adult homocystinuria patients.
Short fourth metacarpal in homocystinuria.
Skeletal abnormalities in homocystinuria.
Treatment of hyperhomocyst(e)inemia: physiological basis.
Urinary homocystine levels in a newborn infant with cystathionine synthase deficiency.
[Bone changes in homocystinuria in childhood]
[Homocystinuria accompanied with cerebral deep venous thrombosis--a case report]
[Hyperhomocysteinemia--a risk factor for development of occlusive vascular diseases]
[Orphan drugs and metabolic disorders]
Dementia
The active site of oxidative phosphorylation and the origin of hyperhomocysteinemia in aging and dementia.
Ectopia Lentis
Delay in diagnosis of homocystinuria: retrospective study of consecutive patients.
Holocarboxylase Synthetase Deficiency
Vitamins and inherited human errors of metabolism.
Homocystinuria
A study of cardiovascular risk in heterozygotes for homocystinuria.
Accumulation of pyroglutamic acid (5-oxoproline) in homocystinuria.
Alternative methionine degradation via the transamination pathway: an option for therapy for homocystinuria due to cystathionine synthase deficiency.
AN INBORN ERROR OF METABOLISM ASSOCIATED WITH DEFICIENCY OF ENZYME CYSTATHIONINE SYNTHETASE LEADING TO HOMOCYSTINURIA.
Carriership for homocystinuria in juvenile vascular disease.
Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria.
Cystathionine synthase in tissue culture derived from human skin: enzyme defect in homocystinuria.
Cystathionine-synthase-deficient patients do not use the transamination pathway of methionine to reduce hypermethioninemia and homocystinemia.
Delay in diagnosis of homocystinuria: retrospective study of consecutive patients.
Electroencephalographic abnormalities in homocystinuria due to cystathionine synthase deficiency.
Folate-responsive homocystinuria and "schizophrenia". A defect in methylation due to deficient 5,10-methylenetetrahydrofolate reductase activity.
Free amino acids in extracts of cultured skin fibroblasts from patients with various amino acid metabolic disorders.
Free amino acids in liver of patients with homocystinuria due to cystathionine synthase deficiency: effects of vitamin B6.
Growth disorders and homocysteine metabolism.
Heterozygosity for homocystinuria in premature peripheral and cerebral occlusive arterial disease.
Homocysteine and cysteine loads in patients with homocystinuria due to cystathionine synthase deficiency: effects of vitamin B-6.
Homocysteine and the pathogenesis of atherosclerosis.
Homocysteine Metabolism, Atherosclerosis, and Diseases of Aging.
Homocystinuria due to cystathionine synthase deficiency.
Homocystinuria due to cystathionine synthase deficiency. Studies of nitrogen balance and sulfur excretion.
Homocystinuria due to cystathionine synthase deficiency: clinical-roentgenologic correlations.
Homocystinuria due to cystathionine synthase deficiency: enzymatic and ultrastructural studies.
Homocystinuria due to cystathionine synthase deficiency: the effect of pyridoxine.
Homocystinuria due to cystathionine synthase deficiency: the metabolism of L-methionine.
HOMOCYSTINURIA DUE TO CYSTATHIONINE SYNTHETASE DEFICIENCY: THE MODE OF INHERITANCE.
Homocystinuria: an observation on the inheritance of cystathionine synthase deficiency.
Homocystinuria: investigations of cystathionine synthase in cultured fetal cells and the prenatal determination of genetic status.
Homocystinuria: pathogenetic mechanisms.
Hyperhomocysteinemia and arteriosclerosis: historical perspectives.
Hyperhomocysteinemia as a risk factor for arterial and venous disease. A review of evidence and relevance.
Improved identification of heterozygotes for homocystinuria due to cystathionine synthase deficiency by the combination of methionine loading and enzyme determination in cultured fibroblasts.
Inborn errors of sulfur-containing amino acid metabolism.
Maternal homocystinuria: studies of an untreated mother and fetus.
No sensory neuropathy during pyridoxine treatment in homocystinuria.
Platelet survival and morphology in homocystinuria due to cystathionine synthase deficiency.
Poorly Controlled Homocystinuria: A Rare Cause of Ischemic Priapism?
Pyridoxine treatment does not prevent homocystinemia after methionine loading in adult homocystinuria patients.
Quasi-moyamoya disease and heterozygosity for homocystinuria in a five-year-old girl.
Short fourth metacarpal in homocystinuria.
Studies on the use of skin fibroblasts for the measurement of cystathionine synthase activity with respect to homocystinuria.
Thiamine (vitamin B1) supplementation does not reduce fasting blood homocysteine concentration in most homozygotes for homocystinuria.
Urinary homocystine levels in a newborn infant with cystathionine synthase deficiency.
Vitamins and inherited human errors of metabolism.
[Bone changes in homocystinuria in childhood]
[Homocystinuria accompanied with cerebral deep venous thrombosis--a case report]
[Phaenotypic aspects of hereditary aminoacidopathies (author's transl)]
Hyperglycinemia, Nonketotic
Free amino acids in extracts of cultured skin fibroblasts from patients with various amino acid metabolic disorders.
Hyperhomocysteinemia
Chemical pathology of homocysteine. V. Thioretinamide, thioretinaco, and cystathionine synthase function in degenerative diseases.
Hyperhomocysteinemia as a risk factor for arterial and venous disease. A review of evidence and relevance.
Poorly Controlled Homocystinuria: A Rare Cause of Ischemic Priapism?
The active site of oxidative phosphorylation and the origin of hyperhomocysteinemia in aging and dementia.
Hypothyroidism
Effects of hypothyroidism and thyroxine substitution on the metabolism of L-methionine, L-cystathionine and taurine in developing rat brain.
SULPHUR-CONTAINING AMINO ACIDS METABOLISM IN EXPERIMENTAL HYPER- AND HYPOTHYROIDISM IN RATS.
Intellectual Disability
[Bone changes in homocystinuria in childhood]
Lens Subluxation
[Bone changes in homocystinuria in childhood]
Malnutrition
Chemical pathology of homocysteine. V. Thioretinamide, thioretinaco, and cystathionine synthase function in degenerative diseases.
Maple Syrup Urine Disease
Vitamins and inherited human errors of metabolism.
Metabolism, Inborn Errors
Vitamins and inherited human errors of metabolism.
methylenetetrahydrofolate dehydrogenase (nad+) deficiency
[Hyperhomocysteinemia--a risk factor for development of occlusive vascular diseases]
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Vitamins and inherited human errors of metabolism.
Myocardial Ischemia
A study of cardiovascular risk in heterozygotes for homocystinuria.
Neoplasms
Homocysteine, Thioretinaco Ozonide, and Oxidative Phosphorylation in Cancer and Aging: A Proposed Clinical Trial Protocol.
Neuroblastoma
Cystathionine metabolism in neuroblastoma.
Propionic Acidemia
Free amino acids in extracts of cultured skin fibroblasts from patients with various amino acid metabolic disorders.
Protein-Energy Malnutrition
Chemical pathology of homocysteine. V. Thioretinamide, thioretinaco, and cystathionine synthase function in degenerative diseases.
Thromboembolism
Platelet survival and morphology in homocystinuria due to cystathionine synthase deficiency.
Thrombosis
Hyperhomocysteinemia and arteriosclerosis: historical perspectives.
Vascular Calcification
Hydrogen sulfide ameliorates vascular calcification induced by vitamin D3 plus nicotine in rats.
Vascular Diseases
Hyperhomocysteinemia and arteriosclerosis: historical perspectives.