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cystathionine beta-synthase
The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2010] (from NCBI)
Top mentioned proteins: ACID, CAN, HAD, methylenetetrahydrofolate reductase, AGE
Papers on cystathionine beta-synthase
Changes in one-carbon metabolism after duodenal-jejunal bypass surgery.
Hwang et al., Dublin, Ireland. In Am J Physiol Endocrinol Metab, Feb 2016
In the liver of DJB rats, betaine-homocysteine S-methyltransferase levels were decreased, whereas serine, cystathionine, cysteine, glutathione, cystathionine beta-synthase, glutathione S-transferase, and aldehyde dehydrogenase levels were increased.
Biosynthesis and Reactivity of Cysteine Persulfides in Signaling.
Banerjee et al., Ann Arbor, United States. In J Am Chem Soc, Feb 2016
Our detailed kinetic analyses demonstrate a robust capacity for Cys-SSH production by the human transsulfuration pathway enzymes, cystathionine beta-synthase and γ-cystathionase (CSE) and for homocysteine persulfide synthesis from homocystine by CSE only.
Molecular and biochemical investigations of patients with intermediate or severe hyperhomocysteinemia.
Hvas et al., Århus, Denmark. In Mol Genet Metab, Jan 2016
UNASSIGNED: A discrepancy has been identified between numbers of expected and identified patients with homocystinuria due to cystathionine beta-synthase (CBS) deficiency.
Polymorphisms in methylenetetrahydrofolate reductase and cystathionine beta-synthase in oral cancer - a case-control study in southeastern Brazilians.
de Freitas Cordeiro-Silva et al., Vitória, Brazil. In Braz J Otorhinolaryngol, Jan 2016
OBJECTIVE: The goals of this study were to evaluate the association of three genotypic polymorphism (MTHFR C677T, MTHFR A1298C and CBS 844ins68) and oral cancer risk in southeastern Brazilians and evaluate the interactions between polymorphisms and clinical histopathological parameters.
Genetic Influences on Plasma Homocysteine Levels in African Americans and Yoruba Nigerians.
Saykin et al., Indianapolis, United States. In J Alzheimers Dis, Nov 2015
Targeted analyses demonstrated significant associations of homocysteine and variants within the CBS (Cystathionine beta-Synthase) gene.
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.
Blom et al., Zürich, Switzerland. In J Inherit Metab Dis, Nov 2015
However, there is robust evidence for the success of early treatment with diet, betaine and/or pyridoxine for CBS deficiency and good evidence for the success of early betaine treatment in severe MTHFR deficiency.
Psychiatric manifestations of treatable hereditary metabolic disorders in adults.
Sedel et al., Bron, France. In Ann Gen Psychiatry, 2013
This review focuses on three HMD categories: acute, treatable HMDs (urea cycle abnormalities, remethylation disorders, acute intermittent porphyria); chronic, treatable HMDs (Wilson's disease, Niemann-Pick disease type C, homocystinuria due to cystathionine beta-synthase deficiency, cerebrotendinous xanthomatosis); and chronic HMDs that are difficult to treat (lysosomal storage diseases, X-linked adrenoleukodystrophy, creatine deficiency syndrome).
Diagnostic and treatment implications of psychosis secondary to treatable metabolic disorders in adults: a systematic review.
Walterfang et al., Nantes, France. In Orphanet J Rare Dis, 2013
DATA SOURCES: Published literature on MEDLINE was assessed regarding diseases of homocysteine metabolism (DHM; cystathionine beta-synthase deficiency [CbS-D] and homocysteinemia due to methyltetrahydrofolate reductase deficiency [MTHFR-D]), urea cycle disorders (UCD), acute porphyria (POR), Wilson disease (WD), cerebrotendinous-xanthomatosis (CTX) and Niemann-Pick disease type C (NP-C).
[Hydrogen sulfide and its effect on pancreatic beta-cells].
Kimura et al., Ōita, Japan. In Nihon Rinsho, 2013
In pancreatic beta-cells, H2S can be produced by cystathionine beta-synthase (CBS) or cystathionine gamma-lyase (CSE).
[Hydrogen sulfide and penile erection].
Jiang et al., China. In Zhonghua Nan Ke Xue, 2012
In mammalians, H2S is mainly synthesized by two proteases, cystathionine-beta-synthase (CBS) and cystathionine-gamma-lyase (CSE).
Sex-specific association of sequence variants in CBS and MTRR with risk for promoter hypermethylation in the lung epithelium of smokers.
Leng et al., Albuquerque, United States. In Carcinogenesis, 2012
studies suggest that SNPs in CBS and MTRR have sex-specific associations with aberrant methylation in the lung epithelium of smokers that could be mediated by the affected one-carbon metabolism and transsulfuration in the cells
Conformational properties of nine purified cystathionine β-synthase mutants.
Kraus et al., Praha, Czech Republic. In Biochemistry, 2012
The majority of the studied cystathionine beta-synthase mutants are more susceptible to cleavage, suggesting their increased local flexibility or propensity for local unfolding.
Asymmetric dimethylarginine in adults with cystathionine β-synthase deficiency.
Blom et al., Amsterdam, Netherlands. In Atherosclerosis, 2012
Negative vascular effects of hyperhomocysteinemia in cystathionine beta-synthase deficiency have an asymmetric dimethylarginine-independent etiology.
Homocystinuria in Taiwan: an inordinately high prevalence in an Austronesian aboriginal tribe, Tao.
Niu et al., Taipei, Taiwan. In Mol Genet Metab, 2012
Mutations in cystathionine-beta-synthase is associated with homocystinuria.
Polymorphisms in MTHFR, MS and CBS genes and homocysteine levels in a Pakistani population.
Iqbal et al., Karāchi, Pakistan. In Plos One, 2011
The average change occurring for cystathionine-beta-synthase 844ins68 heterozygous genotype (ancestral/insertion) was -1.88(0.81) micromol/L.
Structure of a eukaryotic CLC transporter defines an intermediate state in the transport cycle.
MacKinnon et al., New York City, United States. In Science, 2010
Cytoplasmic cystathionine beta-synthase (CBS) domains are strategically positioned to regulate the ion-transport pathway, and many disease-causing mutations in human CLCs reside on the CBS-transmembrane interface.
Hydrogen sulphide and its therapeutic potential.
Szabó, Seattle, United States. In Nat Rev Drug Discov, 2007
The production of H2S from L-cysteine is catalysed primarily by two enzymes, cystathionine gamma-lyase and cystathionine beta-synthase.
Crystal structure of the MgtE Mg2+ transporter.
Nureki et al., Yokohama, Japan. In Nature, 2007
The transporter adopts a homodimeric architecture, consisting of the carboxy-terminal five transmembrane domains and the amino-terminal cytosolic domains, which are composed of the superhelical N domain and tandemly repeated cystathionine-beta-synthase domains.
Reduction of false negative results in screening of newborns for homocystinuria.
Levy et al., Boston, United States. In N Engl J Med, 1999
BACKGROUND: Mental retardation and other disabilities (including ectopia lentis, osteoporosis, and thromboembolism) in patients who have homocystinuria as a result of a deficiency of cystathionine beta-synthase can be prevented by the screening of newborns with measurement of blood methionine, followed by the early treatment of affected infants.
Correction of disease-causing CBS mutations in yeast.
Kruger et al., Philadelphia, United States. In Nat Genet, 1998
Mutations in cystathionine beta-synthase (CBS) are known to cause homocystinuria, a recessive disorder characterized by excessive levels of total homocysteine (tHcy) in plasma.
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