4.2.1.22: cystathionine beta-synthase
This is an abbreviated version!
For detailed information about cystathionine beta-synthase, go to the full flat file.
Word Map on EC 4.2.1.22
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4.2.1.22
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h2s
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sulfide
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homocystinuria
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hyperhomocysteinemia
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artery
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spacer
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corticobasal
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candida
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mthfr
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carotid
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folate
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transsulfuration
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conidia
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cajal
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nahs
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dextrose
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methylenetetrahydrofolate
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bismuth
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hallucinations
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anamorphic
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palsy
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supranuclear
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charles
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remethylation
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reisolated
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conidiophore
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gamma-lyase
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biodiversity
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hyaline
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chemoreceptor
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gasotransmitter
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3-mercaptopyruvate
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frontotemporal
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sulfurtransferase
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thromboembolic
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ascospore
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rinsed
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aminooxyacetic
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apraxia
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snrnps
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symptomless
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hydrosulfide
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marxianus
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visuospatial
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5,10-methylenetetrahydrofolate
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voxel-based
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appressoria
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naocl
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medicine
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diagnostics
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ascus
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phytopathological
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analysis
- 4.2.1.22
- h2s
- sulfide
- homocystinuria
- hyperhomocysteinemia
- artery
-
spacer
-
corticobasal
- candida
- mthfr
-
carotid
- folate
-
transsulfuration
- conidia
-
cajal
- nahs
- dextrose
- methylenetetrahydrofolate
-
bismuth
- hallucinations
-
anamorphic
- palsy
-
supranuclear
-
charles
-
remethylation
-
reisolated
-
conidiophore
-
gamma-lyase
-
biodiversity
-
hyaline
-
chemoreceptor
-
gasotransmitter
- 3-mercaptopyruvate
-
frontotemporal
- sulfurtransferase
-
thromboembolic
- ascospore
-
rinsed
-
aminooxyacetic
- apraxia
-
snrnps
-
symptomless
- hydrosulfide
- marxianus
-
visuospatial
- 5,10-methylenetetrahydrofolate
-
voxel-based
-
appressoria
- naocl
- medicine
- diagnostics
- ascus
-
phytopathological
- analysis
Reaction
Synonyms
Beta-thionase, CBS, CBS424, CDCP2, CNNM2, Cys4, CysB, cystathionine beta synthase, cystathionine beta-synthase, cystathionine beta-synthase domain-containing protein, cystathionine-beta-synthase, Cysteine synthase, EC 4.2.1.21, hCBS, Hemoprotein H-450, LbrM.17.0230, Methylcysteine synthase, osmoprotectant transporter OpuC, PF1953, PH0267, Serine sulfhydrase, Serine sulfhydrylase, Serine sulphhydrase, TA0289, TM0935, TV1335, yCBS, ytCBS
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Application
Application on EC 4.2.1.22 - cystathionine beta-synthase
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analysis
diagnostics
medicine
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usefulness of the CBS domains as predictors of osmoregulatory activity
analysis
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development of 7-azido-4-carbamoylmethylcoumarin as a modified fluorogenic probe for H2S detection with improved solubility in aqueous solutions
analysis
development of a LC-MS/MS and HPLC methods to simultaneously measure formation of thioethers and hydrogen sulfide from mixtures of cystathionine beta-synthase substrates
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the mutations present in each country differ from each other depending on the demographic profile. Therefore, specific mutations scanning must be performed in each population for diagnosis and prognosis purposes
diagnostics
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evaluation of plasma cystathionine beta-synthase activity in cystathionine beta-synthase-deficient patients for utilization of the assay in diagnosis and study of cystathionine beta-synthase deficiency
inherited deficiency leads to homocystinura, a disease of sulfur metabolism
medicine
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inherited deficiency leads to homocystinura, a disease of sulfur metabolism characterized by increased levels of homocysteine and methionine and decreased levels of cysteine
medicine
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inherited deficiency leads to homocystinuria, an autosomal recessivlely inherited disease of sulfur metabolism
medicine
inherited dysfunction of the enzyme leads to homocystinurea, mutations can occur at the dimer interface, the active site, the heme-binding site and the predicted interface region between the catalytic domain and the missing regulatory domain of the truncated enzyme
medicine
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a deficiency of cystathionine beta-synthase causes various neurodevelopmental defects which result in complex neuropathological features associated with abnormal homocysteine metabolism, and also suggest that radial glia/astrocyte lineage cells might be a new therapeutic target for preventing and treating them
medicine
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CBS-deficient patients have significantly elevated plasma levels of prothrombotic N-homocysteine-fibrinogen
medicine
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there is no association between the CBS (844ins68) insertion polymorphism and cancer of the upper gastrointestinal tract
medicine
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breast cancer patient-derived tissues and breast cancer cells exhibit significantly increased levels of CBS when compared with their normal counterparts, associated with increased levels of H2S and cystathionine. Silencing of CBS in breast cancer cells causes a significant decrease in the levels of H2S and cystathionine but does not affect the growth of these cells per se, in in vitro cultures. CBS-silenced cells exhibit significantly reduced growth in the presence of activated macrophages and in xenograft models, associated with an increase in the steady state levels of reactive aldehyde-derived protein adducts
medicine
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treatment with homocysteine upregulates cystathionine gamma lyase CSE but downregulates CBS whereas Na2S or H2S-donoer GYY4137 downregulates CSE but upregulates CBS in a dose-dependent manner. In the homocysteine-treated cardiomyocytes, CBS and miR-133a are downregulated and hypertrophy is inducedIn vivo studies using CBS+/- mice, a model for hyperhomocysteinemia, and sibling CBS+/+ control mice revealed that deficiency of CBS upregulates cardiac CSE