Cystathionine beta-Synthase: A multifunctional pyridoxal phosphate enzyme. In the second stage of cysteine biosynthesis it catalyzes the reaction of homocysteine with serine to form cystathionine with the elimination of water. Deficiency of this enzyme leads to HYPERHOMOCYSTEINEMIA and HOMOCYSTINURIA. EC 4.2.1.22.Homocystinuria: Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)Hyperhomocysteinemia: Condition in which the plasma levels of homocysteine and related metabolites are elevated (>13.9 µmol/l). Hyperhomocysteinemia can be familial or acquired. Development of the acquired hyperhomocysteinemia is mostly associated with vitamins B and/or folate deficiency (e.g., PERNICIOUS ANEMIA, vitamin malabsorption). Familial hyperhomocysteinemia often results in a more severe elevation of total homocysteine and excretion into the urine, resulting in HOMOCYSTINURIA. Hyperhomocysteinemia is a risk factor for cardiovascular and neurodegenerative diseases, osteoporotic fractures and complications during pregnancy.CystathionineCystathionine gamma-Lyase: A multifunctional pyridoxal phosphate enzyme. In the final step in the biosynthesis of cysteine it catalyzes the cleavage of cystathionine to yield cysteine, ammonia, and 2-ketobutyrate. EC 4.4.1.1.Hydrogen Sulfide: A flammable, poisonous gas with a characteristic odor of rotten eggs. It is used in the manufacture of chemicals, in metallurgy, and as an analytical reagent. (From Merck Index, 11th ed)Homocysteine: A thiol-containing amino acid formed by a demethylation of METHIONINE.Period Circadian Proteins: Circadian rhythm signaling proteins that influence circadian clock by interacting with other circadian regulatory proteins and transporting them into the CELL NUCLEUS.Wheat Germ Agglutinins: Lectins purified from the germinating seeds of common wheat (Triticum vulgare); these bind to certain carbohydrate moieties on cell surface glycoproteins and are used to identify certain cell populations and inhibit or promote some immunological or physiological activities. There are at least two isoforms of this lectin.Retinal Hemorrhage: Bleeding from the vessels of the retina.Retina: The ten-layered nervous tissue membrane of the eye. It is continuous with the OPTIC NERVE and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the CHOROID and the inner surface with the VITREOUS BODY. The outer-most layer is pigmented, whereas the inner nine layers are transparent.Retinal Vessels: The blood vessels which supply and drain the RETINA.Retinal Neovascularization: Formation of new blood vessels originating from the retinal veins and extending along the inner (vitreal) surface of the retina.Amaranth Dye: A sulfonic acid-based naphthylazo dye used as a coloring agent for foodstuffs and medicines and as a dye and chemical indicator. It was banned by the FDA in 1976 for use in foods, drugs, and cosmetics. (From Merck Index, 11th ed)Carboxylic Ester Hydrolases: Enzymes which catalyze the hydrolysis of carboxylic acid esters with the formation of an alcohol and a carboxylic acid anion.Autistic Disorder: A disorder beginning in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual. (DSM-V)Caenorhabditis elegans Proteins: Proteins from the nematode species CAENORHABDITIS ELEGANS. The proteins from this species are the subject of scientific interest in the area of multicellular organism MORPHOGENESIS.Caenorhabditis elegans: A species of nematode that is widely used in biological, biochemical, and genetic studies.Aedes: A genus of mosquitoes (CULICIDAE) frequently found in tropical and subtropical regions. YELLOW FEVER and DENGUE are two of the diseases that can be transmitted by species of this genus.Butterflies: Slender-bodies diurnal insects having large, broad wings often strikingly colored and patterned.Cleft Palate: Congenital fissure of the soft and/or hard palate, due to faulty fusion.BelgiumPalate: The structure that forms the roof of the mouth. It consists of the anterior hard palate (PALATE, HARD) and the posterior soft palate (PALATE, SOFT).Haplotypes: The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.Amino Acids, Peptides, and Proteins: Amino acids and chains of amino acids connected by peptide linkages.Lipid Metabolism, Inborn Errors: Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.Metabolism, Inborn Errors: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.Peroxisomal Disorders: A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders.Acyl-CoA Dehydrogenase, Long-Chain: A flavoprotein oxidoreductase that has specificity for long-chain fatty acids. It forms a complex with ELECTRON-TRANSFERRING FLAVOPROTEINS and conveys reducing equivalents to UBIQUINONE.Acyl-CoA Dehydrogenase: A flavoprotein oxidoreductase that has specificity for medium-chain fatty acids. It forms a complex with ELECTRON TRANSFERRING FLAVOPROTEINS and conveys reducing equivalents to UBIQUINONE.Gene Rearrangement: The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.Monomethylhydrazine: Hydrazine substituted by one methyl group.S-Adenosylhomocysteine: 5'-S-(3-Amino-3-carboxypropyl)-5'-thioadenosine. Formed from S-adenosylmethionine after transmethylation reactions.S-Adenosylmethionine: Physiologic methyl radical donor involved in enzymatic transmethylation reactions and present in all living organisms. It possesses anti-inflammatory activity and has been used in treatment of chronic liver disease. (From Merck, 11th ed)Adenosylhomocysteinase: An enzyme which catalyzes the catabolism of S-ADENOSYLHOMOCYSTEINE to ADENOSINE and HOMOCYSTEINE. It may play a role in regulating the concentration of intracellular adenosylhomocysteine.Liver Diseases: Pathological processes of the LIVER.Free Radicals: Highly reactive molecules with an unsatisfied electron valence pair. Free radicals are produced in both normal and pathological processes. They are proven or suspected agents of tissue damage in a wide variety of circumstances including radiation, damage from environment chemicals, and aging. Natural and pharmacological prevention of free radical damage is being actively investigated.Methylation: Addition of methyl groups. In histo-chemistry methylation is used to esterify carboxyl groups and remove sulfate groups by treating tissue sections with hot methanol in the presence of hydrochloric acid. (From Stedman, 25th ed)Marfan Syndrome: An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE, dilation of the AORTA, and aortic dissection. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome is associated with mutations in the gene encoding fibrillin, a major element of extracellular microfibrils of connective tissue.Autopsy: Postmortem examination of the body.Death, Sudden, Cardiac: Unexpected rapid natural death due to cardiovascular collapse within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as CHEST PAIN and CARDIAC ARRHYTHMIAS, particularly VENTRICULAR TACHYCARDIA, can lead to the loss of consciousness and cardiac arrest followed by biological death. (from Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 7th ed., 2005)Forensic Pathology: The application of pathology to questions of law.Aortic Aneurysm: An abnormal balloon- or sac-like dilatation in the wall of AORTA.Aging: The gradual irreversible changes in structure and function of an organism that occur as a result of the passage of time.Death, Sudden: The abrupt cessation of all vital bodily functions, manifested by the permanent loss of total cerebral, respiratory, and cardiovascular functions.Amino Acids: Organic compounds that generally contain an amino (-NH2) and a carboxyl (-COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins.Stereoisomerism: The phenomenon whereby compounds whose molecules have the same number and kind of atoms and the same atomic arrangement, but differ in their spatial relationships. (From McGraw-Hill Dictionary of Scientific and Technical Terms, 5th ed)Databases, Pharmaceutical: Databases devoted to knowledge about PHARMACEUTICAL PRODUCTS.Pharmacological Processes: The metabolism of drugs and their mechanisms of action.Databases, Chemical: Databases devoted to knowledge about specific chemicals.Glycine: A non-essential amino acid. It is found primarily in gelatin and silk fibroin and used therapeutically as a nutrient. It is also a fast inhibitory neurotransmitter.Serine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.

The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment. (1/429)

Homocystinuria due to cystathionine beta-synthase (CBS) deficiency, inherited as an autosomal recessive trait, is the most prevalent inborn error of methionine metabolism. Its diverse clinical expression may include ectopia lentis, skeletal abnormalities, mental retardation, and premature arteriosclerosis and thrombosis. This variability is likely caused by considerable genetic heterogeneity. We investigated the molecular basis of CBS deficiency in 29 Dutch patients from 21 unrelated pedigrees and studied the possibility of a genotype-phenotype relationship with regard to biochemical and clinical expression and response to homocysteine-lowering treatment. Clinical symptoms and biochemical parameters were recorded at diagnosis and during long-term follow-up. Of 10 different mutations detected in the CBS gene, 833T-->C (I278T) was predominant, present in 23 (55%) of 42 independent alleles. At diagnosis, homozygotes for this mutation (n=12) tended to have higher homocysteine levels than those seen in patients with other genotypes (n=17), but similar clinical manifestations. During follow-up, I278T homozygotes responded more efficiently to homocysteine-lowering treatment. After 378 patient-years of treatment, only 2 vascular events were recorded; without treatment, at least 30 would have been expected (P<.01). This intervention in Dutch patients significantly reduces the risk of cardiovascular disease and other sequelae of classical homocystinuria syndrome.  (+info)

Four common mutations of the cystathionine beta-synthase gene detected by multiplex PCR and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. (2/429)

BACKGROUND: A deficiency of cystathionine beta-synthase (CBS) is the most frequent cause of homocystinuria. The effect of therapy is related to the underlying CBS genotype, which makes early diagnosis of this genetic defect important. Our aim was to develop a fast and reliable method based on matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) mass spectrometry for the determination of common mutations of the CBS gene. METHODS: We used MALDI-TOF mass spectrometry to detect four common CBS mutations (G307S, T272M, I278T, and V320A). The method is based on multiplex PCR of exons 7, 8, and 9, followed by single nucleotide extension in the presence of dideoxy NTPs of four primers targeted at the separate mutation sites. The extension products, as well as the 3-hydroxypicolinic acid matrix, were incubated with cation-exchange beads to remove disturbing salt contaminants. RESULTS: The above-mentioned mutations were determined in samples from 12 homocystinuria patients. The MALDI-TOF spectra allowed unambiguous discrimination between primers and extension products (>9 Da) in the mass range between 4500 and 7500 Da. No labeled primers or ddNTPs were required. The genotyping was verified by reference technique. CONCLUSION: Our results demonstrate fast, simple, and unambiguous multiplex genotyping of four common CBS mutations by MALDI-TOF mass spectrometry.  (+info)

The localization and interactions of huntingtin. (3/429)

Huntingtin was localized by using a series of antibodies that detected different areas of the protein from the immediate N-terminus to the C-terminal region of the protein. The more C-terminal antibodies gave a cytoplasmic localization in neurons of the brain in controls and cases of Huntington's disease (HD). The N-terminal antibody, however, gave a distinctive pattern of immunoreactivity in the HD brain, with marked staining of axon tracts and white matter and the detection of densely staining intranuclear inclusions. This implies some processing differences between mutated and normal huntingtin. We have also localized two interacting proteins, cystathionine beta-synthase and the nuclear receptor co-repressor (N-CoR), in brain. Cystathionine beta-synthase was not relocalized in HD brain, but the N-CoR was excluded from neuronal nuclei in HD brain, and a further protein that exists in the same repression complex, mSin3, was similarly excluded. We conclude that the co-repressor might have a part in HD pathology.  (+info)

Dimethylsulfoniopropionate and methanethiol are important precursors of methionine and protein-sulfur in marine bacterioplankton. (4/429)

Organic sulfur compounds are present in all aquatic systems, but their use as sources of sulfur for bacteria is generally not considered important because of the high sulfate concentrations in natural waters. This study investigated whether dimethylsulfoniopropionate (DMSP), an algal osmolyte that is abundant and rapidly cycled in seawater, is used as a source of sulfur by bacterioplankton. Natural populations of bacterioplankton from subtropical and temperate marine waters rapidly incorporated 15 to 40% of the sulfur from tracer-level additions of [(35)S]DMSP into a macromolecule fraction. Tests with proteinase K and chloramphenicol showed that the sulfur from DMSP was incorporated into proteins, and analysis of protein hydrolysis products by high-pressure liquid chromatography showed that methionine was the major labeled amino acid produced from [(35)S]DMSP. Bacterial strains isolated from coastal seawater and belonging to the alpha-subdivision of the division Proteobacteria incorporated DMSP sulfur into protein only if they were capable of degrading DMSP to methanethiol (MeSH), whereas MeSH was rapidly incorporated into macromolecules by all tested strains and by natural bacterioplankton. These findings indicate that the demethylation/demethiolation pathway of DMSP degradation is important for sulfur assimilation and that MeSH is a key intermediate in the pathway leading to protein sulfur. Incorporation of sulfur from DMSP and MeSH by natural populations was inhibited by nanomolar levels of other reduced sulfur compounds including sulfide, methionine, homocysteine, cysteine, and cystathionine. In addition, propargylglycine and vinylglycine were potent inhibitors of incorporation of sulfur from DMSP and MeSH, suggesting involvement of the enzyme cystathionine gamma-synthetase in sulfur assimilation by natural populations. Experiments with [methyl-(3)H]MeSH and [(35)S]MeSH showed that the entire methiol group of MeSH was efficiently incorporated into methionine, a reaction consistent with activity of cystathionine gamma-synthetase. Field data from the Gulf of Mexico indicated that natural turnover of DMSP supplied a major fraction of the sulfur required for bacterial growth in surface waters. Our study highlights a remarkable adaptation by marine bacteria: they exploit nanomolar levels of reduced sulfur in apparent preference to sulfate, which is present at 10(6)- to 10(7)-fold higher concentrations.  (+info)

Deletion of the regulatory domain in the pyridoxal phosphate-dependent heme protein cystathionine beta-synthase alleviates the defect observed in a catalytic site mutant. (5/429)

The most common cause of severely elevated homocysteine or homocystinuria is inherited disorders in cystathionine beta-synthase. The latter enzyme is a unique hemeprotein that catalyzes pyridoxal phosphate (PLP)-dependent condensation of serine and homocysteine to give cystathionine, thus committing homocysteine to catabolism. A point mutation, V168M, has been described in a homocystinuric cell line and is associated with a B(6)-responsive phenotype. In this study, we have examined the kinetic properties of this mutant and demonstrate that the mutation affects the PLP but not the heme content. The approximately 13-fold diminution in activity because of the mutation corresponds to an approximately 7-fold decrease in the level of bound PLP. This may be explained by half of the sites activity associated with cystathionine beta-synthase. The addition of PLP results in partial but not full restoration of activity to wild type levels. Elimination of the C-terminal quarter of the mutant protein results in alleviation of the catalytic penalty imposed by the V168M mutation. The resulting truncated protein is very similar to the corresponding truncated enzyme with wild type sequence and is now able to bind the full complement of both heme and PLP cofactors. These results indicate that the V168M mutation per se does not affect binding of PLP directly and that interactions between the regulatory C terminus and the catalytic N terminus are important in modulating the cofactor content and therefore the activity of the full-length enzyme. These studies provide the first biochemical explanation for the B(6)-responsive phenotype associated with a cystathionine beta-synthase-impaired homocystinuric genotype.  (+info)

Saccharomyces cerevisiae cultured under aerobic and anaerobic conditions: air-level oxygen stress and protection against stress. (6/429)

Cells of Saccharomyces cerevisiae were grown aerobically and anaerobically, and levels of the protective compounds, cysteine and glutathione, and activities of defensive enzymes, catalase and superoxide dismutase, against an oxygen stress were determined and compared in both cells. Aerobiosis increased both the compounds and enzyme activities. The elevated synthesis of glutathione could be associated with the increased levels of cysteine which in its turn was found to be controlled by the oxygen-dependent activation of cystathionine beta-synthase.  (+info)

Yeast cystathionine beta-synthase is a pyridoxal phosphate enzyme but, unlike the human enzyme, is not a heme protein. (7/429)

Our studies of cystathionine beta-synthase from Saccharomyces cerevisiae (yeast) are aimed at clarifying the cofactor dependence and catalytic mechanism and obtaining a system for future investigations of the effects of mutations that cause human disease (homocystinuria or coronary heart disease). We report methods that yielded high expression of the yeast gene in Escherichia coli and of purified yeast cystathionine beta-synthase. The absorption and circular dichroism spectra of the homogeneous enzyme were characteristic of a pyridoxal phosphate enzyme and showed the absence of heme, which is found in human and rat cystathionine beta-synthase. The absence of heme in the yeast enzyme facilitates spectroscopic studies to probe the catalytic mechanism. The reaction of the enzyme with L-serine in the absence of L-homocysteine produced the aldimine of aminoacrylate, which absorbed at 460 nm and had a strong negative circular dichroism band at 460 nm. The formation of this intermediate from the product, L-cystathionine, demonstrates the partial reversibility of the reaction. Our results establish the overall catalytic mechanism of yeast cystathionine beta-synthase and provide a useful system for future studies of structure and function. The absence of heme in the functional yeast enzyme suggests that heme does not play an essential catalytic role in the rat and human enzymes. The results are consistent with the absence of heme in the closely related enzymes O-acetylserine sulfhydrylase, threonine deaminase, and tryptophan synthase.  (+info)

Vitamin B-6 deficiency in rats reduces hepatic serine hydroxymethyltransferase and cystathionine beta-synthase activities and rates of in vivo protein turnover, homocysteine remethylation and transsulfuration. (8/429)

Vitamin B-6 deficiency causes mild elevation in plasma homocysteine, but the mechanism has not been clearly established. Serine is a substrate in one-carbon metabolism and in the transsulfuration pathway of homocysteine catabolism, and pyridoxal phosphate (PLP) plays a key role as coenzyme for serine hydroxymethyltransferase (SHMT) and enzymes of transsulfuration. In this study we used [(2)H(3)]serine as a primary tracer to examine the remethylation pathway in adequately nourished and vitamin B-6-deficient rats [7 and 0.1 mg pyridoxine (PN)/kg diet]. [(2)H(3)]Leucine and [1-(13)C]methionine were also used to examine turnover of protein and methionine pools, respectively. All tracers were injected intraperitoneally as a bolus dose, and then rats were killed (n = 4/time point) after 30, 60 and 120 min. Rats fed the low-PN diet had significantly lower growth and plasma and liver PLP concentrations, reduced liver SHMT activity, greater plasma and liver total homocysteine concentration, and reduced liver S-adenosylmethionine concentration. Hepatic and whole body protein turnover were reduced in vitamin B-6-deficient rats as evidenced by greater isotopic enrichment of [(2)H(3)]leucine. Hepatic [(2)H(2)]methionine production from [(2)H(3)]serine via cytosolic SHMT and the remethylation pathway was reduced by 80.6% in vitamin B-6 deficiency. The deficiency did not significantly reduce hepatic cystathionine-beta-synthase activity, and in vivo hepatic transsulfuration flux shown by production of [(2)H(3)]cysteine from the [(2)H(3)]serine increased over twofold. In contrast, plasma appearance of [(2)H(3)]cysteine was decreased by 89% in vitamin B-6 deficiency. The rate of hepatic homocysteine production shown by the ratio of [1-(13)C]homocysteine/[1-(13)C]methionine areas under enrichment vs. time curves was not affected by vitamin B-6 deficiency. Overall, these results indicate that vitamin B-6 deficiency substantially affects one-carbon metabolism by impairing both methyl group production for homocysteine remethylation and flux through whole-body transsulfuration.  (+info)

Cystathionine γ-lyase (CGL) is the last enzyme of the trans-sulphuration pathway, which converts methionine into cysteine. To study the possible differences in enzymic activity of the two human cystathionine γ-lyase isoforms characterized earlier, these were separately expressed in human kidney embryonic 293T cells. Furthermore, developmental changes in the expression of the two mRNA forms as well as the enzymic activity in human liver were studied, as it has been postulated that a change in the relative expression of CGL isoforms causes the postnatal increase in CGL activity. Transfection with the longer isoform increased the CGL activity 1.5-fold, while the activity of the cells transfected with the shorter form did not differ from the basal activity. In human liver samples, CGL activity was only detected in adult tissue (68±9 nmol of cysteine/h per mg of protein), whereas activity in fetal, premature and full-term neonatal liver tissue was undetectable. In contrast, strong mRNA expression ...
The group studies the basic mechanisms involved in the pathogenesis of human diseases and their possible prevention and treatment through recombinant DNA procedures. Clinical, animal and in vitro models are used to investigate, at the molecular level, genotype-phenotype correlations in pre-mRNA splicing defects.. This approach allows us to reach two main objectives. First, to identify pathogenic mutations in human disease and second, to take advantage of the pointers provided by human pathology, to explore novel molecular mechanisms involved in the splicing process.. The systems under study cover diverse topics within the splicing field. The 5 and 3 splice site definition is being studied in gene systems such as the breast cancer gene BRCA1, the potassium channel KCHN2 (responsible for some forms of long QT syndrome), Cystic Fibrosis (CFTR gene), Neurofibromatosis type 1 (NF-1 gene), Thrombopoietin (TPO) and Cystathionine Beta Synthase (CBS). Several intronic and exonic cis-acting splicing ...
The enzyme cystathionine β-synthase (CBS) catalyzes the condensation of serine and homocysteine to produce cystathionine, an important intermediate in the biosynthesis of cysteine. Deficiency of CBS activity results in toxic levels of homocysteine and is the most common cause of homocystinuria, a disease whose symptoms include dislocated eye lenses, skeletal and vascular problems, and mental retardation. Although the catalytic chemistry of CBS is performed by its coenzyme pyridoxal 5-phosphate (PLP), heme is essential for activity in human CBS. Heme is also found in Drosophila CBS. However, the CBS enzymes of lower organisms (e.g. yeast) do not need heme at all. Why, then, has nature included a heme in the CBS in the course of evolution? A number of hypotheses have been put out base on previous studies, including both structural and regulatory roles for the heme. However, there is still no concensus on what the heme does in CBS. In collaboration with Professor Jan Kraus ...
Background: Hyperhomocysteinemia (HHcy) is an established risk factor for atherothrombogenic diseases. In this study we investigated the effect of HHcy on EC-platelets interaction and its role in thrombosis. Methods and Results: We used a novel mouse model of HHcy (plasma homocysteine, Hcy 80 μ M) in which a Zn2+ inducible human cystathionine β-synthase (CBS) transgene was introduced to circumvent the neonatal lethality of Cbs deficiency (Tg-hCBS Cbs−/−mice). Hcy-lowering therapy was performed by giving ZnSO4 water to induce human CBS transgene expression in adult mice. Thrombus formation was examined by photo-dye induced cremaster microvasculature thrombosis using intra-vital microscope, which preserved the endothelium, and by FeCl3-induced carotid artery thrombosis, which denudated the endothelium. HHcy accelerated cremaster arteriolar thrombosis and decreased blood flow cessation time from 41.8 min in control mice to 30.5 min in Tg-hCBS Cbs−/− mice. Venular blood flow cessation time ...
Presently there are ,100 CBS mutations known that lead to more or less severe phenotypes in the patient. Five mutations are located close to or at the heme binding site (R58W, H65R, R224H, A226T and R266G/K), eight mutations affect the active site region of CBS and binding of the cofactor PLP (G148R, N228K, T257M, G259S, E302K, G305R, G307S and T353M) and six mutations are located at the dimer interface (P88S, A114V, G116R, I152M, E176K and V180A). Twelve mutated residues are on the surface of the protein and exposed to solvent. Most of these mutations are expected to affect enzyme activity by a general destabilization of the protein structure, which is probably the case for one of the most frequent mutations in patients, I278T. Together with the other frequent mutation, G307S, they represent ∼40% of all mutant alleles. This second mutation (G307S), which confers a severe phenotype, probably influences binding of the second substrate homocysteine, as homocysteine is expected to bind to the ...
Altered retinal vasculature in cbs −/− mice. Histological assessment of retinal cryosections stained with hematoxylin and eosin (A, B), showing retinal hemorrhage (white arrow) and grossly dilated blood vessels in the cbs −/− retina (B) compared to the normal retina of wild-type (cbs +/+) mouse (A). Retinal flat mounts (C-F) stained with isolectin-B4 (endothelial cell marker) labeling the retinal vasculature. Retina of cbs −/− mouse shows central capillary dropout (D) compared to healthy central vasculature of cbs +/+ mouse (C). Neovascular tufts (arrows) were observed in retinas of cbs −/− mice (F), which were not observed in the cbs +/+ mouse retina (E). Experiments were performed in five mice. Scale bar: 40 μm (B), 200 μm (D, F). Morphometric assessment of the central capillary-free areas showed significant increase in cbs −/− retinas compared to wild-type (cbs +/+) retinas ([G], *P , 0.05, n = 4 mice per group). Vasculature of the 3-week-old cbs +/− mice was mildly ...
1. Gong, M., Chen, Y., Senturia, R., et al. (2012) Caspases Cleave and Inhibit the microRNA Processing Protein DiGeorge Critical Region 8. Protein Science. 21(6), 797-808.. 2. Vozdek, R., Hnizda, A., Krijt, J., Kostrouchová, M., and Kožich, V. (2012) Novel structural arrangement of nematode cystathionine beta-synthases: characterization of Caenorhabditis elegans CBS-1. Biochem. J doi: 10.1042/BJ20111478. 3. Hnizda, A., Jurga, V., Rakova, K., Kozich, V. (2011) Cystathionine beta-Synthase Mutants Exhibit Changes in Protein Unfolding: Conformational Analysis of Misfolded Varients in Crude Cell Extract. J. Inherit Metab. Dis. 35 (3), 469-477. 4. Kontur, W.S., Capp, M.W, Gries, T.J., Saecker, R.M., Record, M.T. (2010) Probing DNA Binding, DNA Opening, and Assembly of a Downstream Clamp/Jaw in Escherichia coli RNA Polymerase- lambdaPR Promoter Complexes Using Salt and the Physiological Anion Glutamate. Biochemistry. 49, 4361-4373. 5. Rittle, J., et al. (2010) Cytochrome P450 Compound I: Capture, ...
Reaktivität: Fledermaus, Rind (Kuh), Hund and more. 121 verschiedene CBS Antikörper vergleichen. Alle direkt auf antikörper-online bestellbar!
Structure of the wild-type c. [833T; -] and c. [833C; 844_845ins68] CBS chromosomes. A:The genomic organization of the CBS gene, with exons depicted as number
Learn more about Cystathionine Beta-synthase Deficiency Disease from related diseases, pathways, genes and PTMs with the Novus Bioinformatics Tool.
Homocystinuria also known as cystathionine beta synthase deficiency or CBS deficiency, is an autosomal recessively inherited disorder in which patients are unable to properly process certain amino acids. The principal biochemical features of this condition are markedly elevated plasma homocysteine concentration (pHcy), total homocysteine (tHcy), plasma concentrations of methionine as well as increased urinary concentration of homocysteine (Hcy). The most common form of homocystinuria is caused by the lack of cystathionine beta synthase (CBS), a vitamin B6 dependent enzyme. Homocystinuria caused by CBS deficiency effects at least 1 in 200,000 or 335,000 people worldwide. Other forms of homocystinuria are much rarer.. Early diagnosis and interventions have helped prevent some of the complications of homocystinuria, including ectopia lentis (dislocation of the ocular lens) and/or severe myopia, developmental delay/mental retardation and skeletal abnormalities.. There are two phenotypic variants of ...
同型半胱氨酸尿症,常伴血浆同型半胱氨酸和蛋氨酸水平增高,是一种涉及胱硫醚β-合成酶活性改变的蛋氨酸代谢遗传性疾病。常导致心血管系统、中枢神经系统、肌肉和结缔组织等多系统功能障碍。此种代谢疾病的特点为血清同型半胱氨酸堆积和同型半胱氨酸在尿液中排出的增加。同型半胱氨酸的实验室分析复杂,综合分析对于确诊同型半胱氨酸尿症,及对疾病治疗疗效的监测有所裨益。 Homocystinuria with increased plasma homocysteine and methionine level is an inherited disorder of the metabolism of methionine, often involves the change of cystathionine beta synthase activity. This disorder leads to a multi-systemic disease of the cardiovascular system, CNS, muscles, and connective tissue. Homocystinuria represents a group of hereditary metabolic disorders characterized by the accumulation of homocysteine in serum and elevated excretion of homocysteine in urine.
Objective Vascular disease is associated with increased plasma asymmetric dimethylarginine (ADMA) and homocysteine, and both are increased in renal failure. In cystathionine β-synthase deficiency (CBS
The Mediterranean diet is known for its cardioprotective effects. Recently, its protective qualities have also been reported in patients with non-alcoholic fatty liver disease (NAFLD). Oxidative stress is one of the important factors responsible for the development and progression of NAFLD. Hydrogen sulfide (H2S), a multifaceted gasotransmitter, has emerged as a potential therapeutic target in NAFLD. Cystathionine β-synthase (CBS) and cystathionine γ-lyase (CSE) are major enzymes responsible for endogenous H2S synthesis. Since oxidative stress contributes to NAFLD pathogenesis, the objective of this study was to investigate the effect of tyrosol, a major compound in olive oil and white wine, on high fat diet-induced hepatic oxidative stress and the mechanisms involved. Mice (C57BL/6) were fed for 5 weeks with a control diet (10 % kcal fat), a high fat diet (60 % kcal fat, HFD) or a HFD supplemented with tyrosol. High fat diet feeding induced hepatic oxidative stress, as indicated by the ...
TY - JOUR. T1 - Vascular and connective tissue features in 5 Italian patients with homocystinuria. AU - Evangelisti, Lucia. AU - Lucarini, Laura. AU - Attanasio, Monica. AU - Porciani, Maria Cristina. AU - Romano, Eloisa. AU - Prisco, Domenico. AU - Gensini, Gian Franco. AU - Abbate, Rosanna. AU - Pepe, Guglielmina. PY - 2009/5/15. Y1 - 2009/5/15. N2 - Homocystinuria is a metabolic disorder associated with defects in genes encoding for methionine metabolism enzymes. Vascular and connective tissue manifestations such as deep venous thrombosis, ectopia lentis and skeletal alterations are the major clinical features. We investigated the clinical manifestations of 5 Italian homocystinuric patients, performed mutation screening analysis on cystationine beta-synthase (CBS) gene and searched for genotype/phenotype correlations. We detected mild cardiovascular and skin connective tissue stigmas in these patients, never reported in homocystinuric patients before. We found 1 novel and 7 known mutations. ...
The suggestion that some colorectal cancers (CRCs) develop by a methylation pathway has been given support by a genetic study of 500 patients in Australia. The findings support the view that key enzymes in the metabolism of folate and methyl groups, which affect DNA methylation, influence predisposition to CRCs, particularly sporadic (non-familial) cancers with microsatellite instability (MSI).. The researchers hypothesised that genetic polymorphisms in enzymes of folate metabolism-methylenetetrahydrofolate reductase (MTHFR) and cystathionine beta-synthase (CBS)-would respectively predispose to or protect against MSI+ CRCs, owing to their effects on enzyme activity.. Comparison of the frequency of polymorphic genotypes in patients with MSI+ and MSI− CRCs and in controls confirmed the hypothysis. The MTHFR TT genotype-which results in a 30% drop in enzyme activity-was significantly associated with CRC, but in patients aged ≥70 years, compared with age matched controls (12% v 7%). It also ...
2014 Medici V, Schroeder DI, Woods R, Lasalle JM, Geng Y, Shibata NM, Peerson J, Hodzic E, Dayal S, Tsukamoto H, Kharbanda KK, Tillman B, French SW, Halsted CH Methylation and gene expression responses to ethanol feeding and betaine supplementation in the cystathionine beta synthase-deficient mouse Alcohol Clin Exp Res. ...
Down syndrome is a chromosome abnormality with specific clinical symptoms and mental retardation caused by trisomy of chromosome 21. The basic genetic change cannot be cured, the control of the associated symptoms, however, may improve the patients quality of life. AIMS: Authors studied the possible correlations between the Down-specific genes and the related biochemical changes. Expression of superoxide dismutase, cystathionine-beta-synthase and S100 protein was investigated. Further aim of the study was to determine the total serum antioxidant capacity (transferrin, ferritin, total protein, albumin and bilirubin) along with the extracellular antioxidants as well as concentrations of homocysteine, folic acid, and vitamin B 12 . To assess the vascular damage, the activity of NAG and S100B level was measured. METHODS: Standard laboratory methods were used to determine the antioxidant capacity (Stocks, 1974), homocysteine (HPLC), folic acid (capture, IMX-Abbott), vitamin B 12 (MEIA, IMX-Abbott), ...
Homocystinuria. In: Hay, Jr WW, Levin MJ, Deterding RR, Abzug MJ. Hay, Jr W.W., Levin M.J., Deterding R.R., Abzug M.J. Eds. William W. Hay, Jr, et al.eds. Quick Medical Diagnosis & Treatment Pediatrics New York, NY: McGraw-Hill; . http://accesspediatrics.mhmedical.com/content.aspx?bookid=2196§ionid=166957958. Accessed January 18, 2018 ...
Learn more about Homocystinuria at Portsmouth Regional Hospital DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
El-Sayed, Ashraf and Khalaf, Salwa and Abdel-Hamid, Gamal and El-Batrik, Mohamed (2015) Screening, morphological and molecular characterization of fungi producing cystathionine γ-lyase. Acta Biologica Hungarica, 66 (1). pp. 119-132. ISSN 0236-5383 ...
MSRB2 produced in E.Coli is a single, non-glycosylated polypeptide chain containing 183 amino acids (21-182a.a.) and having a molecular mass of 19.5kDa.
Ariella was unfortunately not diagnosed with Homocystinuria until the age of 12 years as, at the time of her birth, newborn screening programs in New York did
A 0·5 kb fragment of Streptomyces venezuelae ISP5230 genomic DNA was amplified by PCR using primers based on consensus sequences of cysteine synthase isozyme A from bacteria. The deduced amino acid sequence of the PCR product resembled not only cysteine synthase sequences from prokaryotes and eukaryotes but also eukaryotic cystathionine β-synthase sequences. Probing an Str. venezuelae genomic library with the PCR product located a hybridizing colony from which pJV207 was isolated. Sequencing and analysis of the Str. venezuelae DNA insert in pJV207 detected two ORFs. The deduced amino acid sequence of ORF1 matched both cysteine synthase and cystathionine β-synthase sequences in GenBank, but its size favoured assignment as a cystathionine β-synthase. ORF2 in the pJV207 insert was unrelated in function to ORF1; in its sequence the deduced product resembled acetyl-CoA transferases, but disruption of the ORF did not cause a detectable phenotypic change. Disruption of ORF1 failed to elicit cysteine
TY - JOUR. T1 - Crystal Structures of Cystathionine β-Synthase from Saccharomyces cerevisiae. T2 - One Enzymatic Step at a Time. AU - Tu, Yupeng. AU - Kreinbring, Cheryl A.. AU - Hill, Megan. AU - Liu, Cynthia. AU - Petsko, Gregory A.. AU - McCune, Christopher D.. AU - Berkowitz, David B. AU - Liu, Dali. AU - Ringe, Dagmar. PY - 2018/6/5. Y1 - 2018/6/5. N2 - Cystathionine β-synthase (CBS) is a key regulator of sulfur amino acid metabolism, taking homocysteine from the methionine cycle to the biosynthesis of cysteine via the trans-sulfuration pathway. CBS is also a predominant source of H2S biogenesis. Roles for CBS have been reported for neuronal death pursuant to cerebral ischemia, promoting ovarian tumor growth, and maintaining drug-resistant phenotype by controlling redox behavior and regulating mitochondrial bioenergetics. The trans-sulfuration pathway is well-conserved in eukaryotes, but the analogous enzymes have different enzymatic behavior in different organisms. CBSs from the higher ...
The gas hydrogen sulfide (H2S) is emerging as a novel regulator of important physiologic functions such as arterial diameter, blood flow and leukocyte adhesion. In addition, it may have antiinflammatory and antiapoptotic effects. H2S has recently attracted much interest as a potent vasorelaxative substance that may establish itself alongside another gaseous signal molecule, nitric oxide (NO). In contrast to NO, the major source of H2S in blood may be production by red blood cells or by vascular smooth muscle cells. H2S is produced from cysteine, involving the enzymes cystathionine beta-synthase and cystathionine gamma-lyase (CSE). The importance of CSE was recently demonstrated in a mouse lacking CSE which showed reduced H2S levels and developed hypertension and reduced endothelium-mediated vasorelaxation. These data establish H2S as a new and important biologic signal molecule and as a new regulator of vascular blood flow and blood pressure. ...
Endogenous hydrogen sulfide (H(2)S) is hypothesized to have an important role in systemic inflammation. We investigated if endogenous H(2)S may be a crucial mediator in airway inflammation and airway remodeling in a rat model of asthma and if endogenous H(2)S may exert its anti-inflammatory effect by inhibiting inducible nitric oxide synthase (iNOS)/NO pathway. Cystathionine-gamma-lyase (CSE; a H(2)S-synthesizing enzyme) was mainly expressed in airway and vascular smooth muscle cells in rat lung tissue. Levels of endogenous H(2)S was decreased in pulmonary tissue in ovalbumin (OVA)-treated rats. Exogenous administration of NaHS alleviated airway inflammation and airway remodeling: peak expiratory flow (PEF) increased, goblet cell hyperplasia and collagen deposition score decreased, with decreased total cells recovered from bronchoalveolar fluid (BALF) and influx of eosinophils and neutrophils. The H(2)S levels of serum and lung tissue were positively correlated with PEF and negatively correlated ...
Cystathionine β-synthase (CBS) overexpression is related to the proliferation and migration of human colon cancers. Targeted therapy that inhibits CBS has achieved promising effects in colon cancer treatments, but no selective inhibitor of CBS is available. In our previous study, a natural biflavonoid compound, sik
Polymorphisms in the methylenetetrahydrofolate reductase (MTHFR), methionine synthase reductase (MTRR) and cystathionine β-synthase (CBS) genes, involved in the intracellular metabolism of homocysteine (Hcy), can result in hyperhomocysteinemia. The objective of this study was to evaluate prevalence estimates of CBS T833C, G919A and the insertion of 68-bp (844ins68) polymorphisms and their correlation with Hcy, folate and B12 in 220 children previously genotyped for MTHFR C677T, A1298C, and MTRR A66G. The prevalence of heterozygote children for 844ins68 was 19.5%. The T833C CBS mutation was identified in association with 844ins68 in all the carriers of the insertion. Genotyping for CBS G919A mutation showed that all the children presented the GG genotype. Analysis of Hcy, B12 and folate, according to the combination of the different genotypes of the C677T and A1298C MTHFR, A66G MTRR, and 844ins68 CBS showed that the 677TT/1298AA/68WW genotype is associated with an increase in Hcy, when compared ...
Increased Renal Methylglyoxal Formation with Down-Regulation of PGC-1α-FBPase Pathway in Cystathionine γ-Lyase Knockout Mice. . Biblioteca virtual para leer y descargar libros, documentos, trabajos y tesis universitarias en PDF. Material universiario, documentación y tareas realizadas por universitarios en nuestra biblioteca. Para descargar gratis y para leer online.
1N8P: Determinants of Enzymatic Specificity in the Cys-Met-Metabolism PLP-Dependent Enzymes Family: Crystal Structure of Cystathionine gamma-lyase from Yeast and Intrafamiliar Structural Comparison
Results In the discovery study on mothers, the CBS locus reached array-wide significance (p=9.13×10−6; Bonferroni p=4.77×10−3; OR 0.47 (0.33 to 0.66)) among the 519 haplotypes tested for their association with OFC risk. Within the CBS haplotype block (rs2124459, rs6586282, rs4920037, rs234705, rs234709), the rs2124459 was the most significantly associated with a reduced risk of OFC (p=1.77×10−4; Bonferroni p=2.00×10−2; OR 0.53 (0.38 to 0.74), minor allele). The rs2124459 was associated with a reduced risk of cleft palate (CP) (p=6.78×10−5; Bonferroni p=7.80×10−3; OR 0.40 (0.25 to 0.63)). In the children group, the rs2124459 was associated with a reduced risk of CP (p=0.02; OR 0.61 (0.40 to 0.93), minor allele). The association between rs2124459 and reduced risk of CP was replicated in an independent children population from Belgium (p=0.02; OR 0.64 (0.44 to 0.93), minor allele). ...
Im probably not saying this right because I really dont understand all the different pathways and their effect on the body, but Im wondering if...
Hydrogen sulfide (H2 S) has emerged as a novel and important gasotransmitter for the cardiovascular system, where it is generated mainly by cystathionine γ-lyase (CSE). Abnormal metabolism and functions of the H2 S/CSE ...
Most bacteria are capable of producing hydrogen sulfide and use a trio of enzymes to do so. Classically, this gas was considered a by-product of sulfur metabolism, but knowing that nitric oxide protects Gram-positive bacteria against oxidative stress, Shatalin et al. (see the Perspective by Belenky and Collins) discovered that H2S probably does likewise. When the H2S-producing enzymes were inactivated, bacteria became more susceptible to antibiotics unless supplied with a source of H2S.. K. Shatalin, E. Shatalina, A. Mironov, E. Nudler, H2S: A universal defense against antibiotics in bacteria. Science 334, 986-990 (2011). [Abstract] [Full Text] P. Belenky, J. J. Collins, Antioxidant strategies to tolerate antibiotics. Science 334, 915-916 (2011). [Abstract] [Full Text] ...
Looking for online definition of cystathionine gamma-lyase in the Medical Dictionary? cystathionine gamma-lyase explanation free. What is cystathionine gamma-lyase? Meaning of cystathionine gamma-lyase medical term. What does cystathionine gamma-lyase mean?
TY - JOUR. T1 - The hyperthermophilic cystathionine c-synthase from the aerobic crenarchaeon Sulfolobus tokodaii. T2 - Expression, purification, crystallization and structural insights. AU - Sato, Dan. AU - Shiba, Tomoo. AU - Mizuno, Sae. AU - Kawamura, Ayaka. AU - Hanada, Shoko. AU - Yamada, Tetsuya. AU - Shinozaki, Mai. AU - Yanagitani, Masahiko. AU - Tamura, Takashi. AU - Inagaki, Kenji. AU - Harada, Shigeharu. PY - 2017. Y1 - 2017. N2 - Cystathionine γ-synthase (CGS; EC 2.5.1.48), a pyridoxal 5′-phosphate (PLP)-dependent enzyme, catalyzes the formation of cystathionine from an l-homoserine derivative and l-cysteine in the first step of the transsulfuration pathway. Recombinant CGS from the thermoacidophilic archaeon Sulfolobus tokodaii (StCGS) was overexpressed in Escherichia coli and purified to homogeneity by heat treatment followed by hydroxyapatite and gel-filtration column chromatography. The purified enzyme shows higher enzymatic activity at 353 K under basic pH conditions compared ...
1. Wilcken DEL, Dudman NPB, Tyrrell PA. Homocystinuria due to cystathionine beta-synthase deficiency-the effects of betaine treatment in pyridoxine-responsive patients. Metabolism. 1985;34:1115-1121. 2. Barak AJ, Beckenhauer HC, Tuma DJ. Betaine, ethanol and the liver: a review. Alcohol. 1996;13:395-398. 3. Barak AJ, Beckenhauer HC, Junnila M, et al. Dietary betaine promotes generation of hepatic S-adenosylmethionine and protects the liver from ethanol-induced fatty infiltration. Alcohol Clin Exp Res. 1993;17:552-555. 4. Murakami T, Nagamura Y, Hirano K. The recovering effect of betaine on carbon tetrachloride-induced liver injury. J Nutr Sci Vitaminol. 1998;44:249-255. 5. Gray ME, Titlow LW. The effect of pangamic acid on maximal treadmill performance. Med Sci Sports Exerc. 1982;14:424-427. 6. Mangoni AA, Jackson SH. Homocysteine and cardiovascular disease: current evidence and future prospects. Am J Med. 2002;112:556-565. 7. Kanbak G, Inal M, Baycu C. Ethanol-induced hepatotoxicity and ...
4.2.1.1 Carbonic anhydrase 4.2.1.2 Fumarate hydratase 4.2.1.3 Aconitate hydratase 4.2.1.4 Transferred entry: 4.2.1.3 4.2.1.5 Arabinonate dehydratase 4.2.1.6 Galactonate dehydratase 4.2.1.7 Altronate dehydratase 4.2.1.8 Mannonate dehydratase 4.2.1.9 Dihydroxy-acid dehydratase 4.2.1.10 3-dehydroquinate dehydratase 4.2.1.11 Phosphopyruvate hydratase 4.2.1.12 Phosphogluconate dehydratase 4.2.1.13 Transferred entry: 4.3.1.17 4.2.1.14 Transferred entry: 4.3.1.18 4.2.1.15 Transferred entry: 4.4.1.1 4.2.1.16 Transferred entry: 4.3.1.19 4.2.1.17 Enoyl-CoA hydratase 4.2.1.18 Methylglutaconyl-CoA hydratase 4.2.1.19 Imidazoleglycerol-phosphate dehydratase 4.2.1.20 Tryptophan synthase 4.2.1.21 Transferred entry: 4.2.1.22 4.2.1.22 Cystathionine beta-synthase 4.2.1.23 Deleted entry 4.2.1.24 Porphobilinogen synthase 4.2.1.25 L-arabinonate dehydratase 4.2.1.26 Transferred entry: 4.3.1.9 4.2.1.27 Acetylenecarboxylate hydratase 4.2.1.28 Propanediol dehydratase 4.2.1.29 Transferred entry: 4.99.1.6 4.2.1.30 Glycerol ...
TY - JOUR. T1 - Increased transsulfuration mediates longevity and dietary restriction in Drosophila. AU - Kabil, Hadise. AU - Kabil, Omer. AU - Banerjee, Ruma. AU - Harshman, Lawrence G.. AU - Pletcher, Scott D.. PY - 2011/10/4. Y1 - 2011/10/4. N2 - The mechanisms through which dietary restriction enhances health and longevity in diverse species are unclear. The transsulfuration pathway (TSP) is a highly conserved mechanism for metabolizing the sulfur-containing amino acids, methionine and cysteine. Here we show that Drosophila cystathionine β-synthase (dCBS), which catalyzes the rate-determining step in the TSP, is a positive regulator of lifespan in Drosophila and that the pathway is required for the effects of diet restriction on animal physiology and lifespan. dCBS activity was up-regulated in flies exposed to reduced nutrient conditions, and ubiquitous or neuron-specific transgenic overexpression of dCBS enhanced longevity in fully fed animals. Inhibition of the TSP abrogated the changes ...
The development of diabetic nephropathy has been linked to several genetic polymorphisms, including those related with homocysteine metabolism such as the methylenetetrahydrofolate reductase (MTHFR)and the cystathionine-beta-synthase genes. Such alterations are associated with hyperhomocysteinemia, which is a known independent risk factor for the development of endothelial dysfunction and cardiovascular disease.. In the Mexican population there is a high prevalence of the C677T MTHFR mutation. The investigators performed this study to evaluate the prevalence of this polymorphism in type 2 diabetic patients with diabetic nephropathy compared with type 2 diabetic patients without nephropathy, besides evaluating the relationship of hyperhomocysteinemia with endothelial dysfunction and microalbuminuria before and after the administration of folic acid. We proposed that the endothelial dysfunction caused by the hyperhomocysteinemia could be reversed after the administration of folic acid. ...
The possible role of hydrogen sulfide (H2S) in cardioprotection was investigated in isolated rat ventricular myocytes exposed to severe metabolic inhibition (MI) in glucose-free buffer containing 2-deoxy-D-glucose (2-DOG), an inhibitor of glycolysis. Pretreatment (30:min) with NaHS (a H 2S donor) at concentrations of 10-5 to 10-4 mol/L caused a concentration related increase in cell viability and the ratio of rod-shaped cells. A time course study showed that NaHS-induced cardioprotection occurred in 2 time windows (~1:h and 16-28:h). To observe whether endogenous H2S may be involved in the delayed cardioprotection response of IP, DL-propargylglycine (PAG) and β-cyano-L-alanine (BCA; two inhibitors of H2S biosynthesis) were used. Both drugs significantly attenuated the cardioprotection produced by MI using cell viability, cellular injury index, and electrically-induced [Ca2+]i transients as end-points. These data suggest that endogenous H2S plays an important role in the cardioprotection ...
Homocysteine (Hcy) is a thiol amino acid formed upon methionine de - methylation. A number of studies have revealed an association between hyperhomocysteinemia (HHcy), in which plasma Hcy levels exceed 15 µM, and diabetic atherosclerosis [1]. Despite these associations, the mechanisms underlying HHcy - associated diabetic atherosclerosis have not been clearly defined. This study assessed the effect of HHcy on diabetic atherosclerosis and its underlying mechanisms. We established a mouse model with a combination of three metabolic disorders, including HHcy (to mimic human HHcy), hyperglycemic (to mimic type 1 diabetes) and dyslipidemia (to exacerbate ApoE-/- mouses susceptibility to atherosclerosis). In this mouse model, severe HHcy was developed due to mouse Cbs deficiency (mean plasma Hcy 182 µM) in a noval HHcy mouse model (Tg-hCBS Cbs ApoE-/-) generated by our collaborator [2]. Hyperglycemia was developed by 50 mg/kg streptozotocin (STZ) consecutive injection for 5 days (mean blood glucose ...
102 84. Lamers Y, Coats B, Ralat M, Quinlivan EP, Stacpoole PW, Gregory JF, 3rd. Moderate vitamin B 6 restriction does not alter postprandial methionine cycle rates of remethylation, transmethylation, and total transsulfuration but increases the fractional synthesis rate of cystathionine in healthy young men and women. J Nutr 2011;141:835 42. 85. Lamers Y, ORourke B, Gilbert LR, et al. Vitamin B 6 restriction tends to reduce the red blood cell glutathione synthesis rate without affecting red blood cell or plasma glutathione concentrations in healthy men and women. Am J Clin Nutr 2009;90:336 43. 86. Lamers Y, Williamson J, Ralat M, et al. Moderate dietary vitamin B 6 restriction raises plasma glycine and cystathionine concentrations while minimally affecting the rates of glycine turnover and glycine cleava ge in healthy men and women. J Nutr 2009;139:452 60. 87. Schuster K, Bailey LB, Cerda JJ, Gregory JF, 3rd. Urinary 4 pyridoxic acid excretion in 24 hour versus random urine samples as a ...
Purpose: We hypothesize that endogenous, mild Hhcy alters retinal neurovasculature. Hhcy is implicated in diabetic retinopathy, glaucoma, CRVO & AMD, but its role is unclear. At ARVO 2014, we reported a fulminant retinal neurovasculopathy in mice deficient in Mthfr; a key enzyme in homocysteine-methionine metabolism. Further studies, revealed the Crb1 (rd8) mutation in Mthfr+/- mice, confounding our interpretation of HHcy effects on retina. To test our hypothesis, it was critical to evaluate HHcy effects due to Mthfr mutation independent of the rd8 mutation.. Methods: Mthfr+/- mice were backcrossed with C57BL6/J mice for several generations to eliminate the rd8 mutation (confirmed by genotyping).Wildtype (WT) mice (n=18) & Mthfr+/- mice (n=16) were subjected to comprehensive retinal evaluation using ERG, fundoscopy, fluorescein angiography (FA), SD-OCT, morphometric & immunohistochemical (IHC) analyses of isolectin-B4 & GFAP at 8, 12, 16, 24 wks. Two way ANOVA was used to determine whether there ...
Article Hydrogen Sulfide Scrubber Systems in Hydrometallurgical Application. Hydrogen Sulfide is a highly toxic and flammable gas. Being heavier than air, it tends to accumulate at the bottom of poorly ventilated spaces. Although very pungent at firs...
Hydrogen sulfide (H2S) may play a wide-ranging role in staving off ageing, according research exploring the compounds plethora of potential anti-aging pathways.
Get the latest hydrogen sulfide flare news on Environmental XPRT, the worlds largest environmental industry marketplace and information resource.
Update April 2011 In 1999, this site was developed in order to help people with HOMOCYSTINURIA HCU . In the last few years I was not able to update this site because of having series of health problems. Since I feel much better ...
Cızkova A, Stranecky V, Mayr JA, Tesarova M, Havlıckova V, Paul J, Ivanek R, Kuss AW, Hansıkova H, Kaplanova W, Vrbacky M, Hartmannova H, Noskova L, Honzık T, Drahota Z, Magner M, Hejzlarova K, Sperl W, Zeman J, Houstek J, Kmoch S (2008) TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. Nat Genet 40:1288-90 ...
I made this video today, while on my way to and oil drilling rig. Just some thoughts and observations. The info is in Scientific American mag., March 2010 issu…
Hydrogen sulfide (H2S) has long been known as a noxious gas, however, we now know that H2S also acts an endogenous signaling molecule in humans. H2S has been shown to mediate a wide range of biological effects, ranging ...
TY - JOUR. T1 - Two pathways for cysteine biosynthesis in Leishmania major. AU - Williams, Roderick A. M.. AU - Westrop, Gareth D.. AU - Coombs, Graham H.. PY - 2009/6/15. Y1 - 2009/6/15. N2 - Genome mining and biochemical analyses have shown that Leishmania major possesses two pathways for cysteine synthesis - the de novo biosynthesis pathway comprising SAT (serine acetyltransferase) and CS (cysteine synthase) and the RTS (reverse trans-sulfuration) pathway comprising CBS (cystathionine beta-synthase) and CGL (cystathionine gamma-lyase). The LmjCS (L. major CS) is similar to the type A CSs of bacteria and catalyses the synthesis of cysteine using O-acetylserine and Sulfide with K(m)s of 17.5 and 0.13 mm respectively. LmjCS can use sulfide provided by the action of MST (mercaptopyruvate Sulfurtransferase) oil 3-MP (3-mercaptopyruvate). LmJCS forms a bi-enzyme complex with Leishmania SAT (and Arabidopsis SAT), with residues LYs(222), His(226) and Lys(227) of LmjCS being involved in the complex ...
Cystathionine β-synthase, S-adenosylmethionine synthetase and cystathionase activities were assayed in skin fibroblast cultures from five pyridoxine responsive and five pyridoxine non-responsive...
The effect of cigarette smoke extract (CSE) on S-adenosylmethionine (SAM), S-adenosylhomocysteine (SAH), and sulfur amino acid metabolism was examined in human lung epithelial-like (A549) cells exposed to various CSE concentrations (2.5-100%) for 24 or 48h. Intracellular SAM and SAM/SAH ratio were elevated after exposure to CSE for 48h. Cell SAH content decreased, but the effect was not consistent. Cellular cystathionine, cysteine, and methionine levels were increased after CSE exposure for 48h. Sub-acute exposure to CSE induced increases in cellular SAM and SAM/SAH ratio. The transsulfuration pathway was likely activated by CSE since cystathionine increased, potentially contributing to the increased total intracellular GSH content. © 2003 Elsevier Ireland Ltd. All rights reserved ...
Aims: To investigate the role of endogenous hydrogen sulfide (H2S) in the control of aging and healthspan of Caenorhabditis elegans. Results: We show that the model organism, C. elegans, synthesizes H2S. Three H2S-synthesizing enzymes are present in C. elegans, namely cystathionine γ lyase (CSE), cystathionine β synthetase, and 3-mercaptopyruvate transferase (MPST or 3-MST). Genetic deficiency of mpst-1 (3-MST orthologue 1), but not cth-2 (CSE orthologue), reduced the lifespan of C. elegans. This effect was reversed by a pharmacological H2S donor (GYY4137). GYY4137 also reduced detrimental age-dependent changes in a range of physiological indices, including pharyngeal contraction and defecation. Treatment of C. elegans with GYY4137 increased the expression of several age-related, stress response, and antioxidant genes, whereas MitoSOX Red fluorescence, indicative of reactive oxygen species generation, was increased in mpst-1 knockouts and decreased by GYY4137 treatment. GYY4137 additionally ...
TY - JOUR. T1 - Redox control of the transsulfuration and glutathione biosynthesis pathways.. AU - Deplancke, Bart. AU - Gaskins, H. Rex. PY - 2002/1. Y1 - 2002/1. N2 - Intracellular reduction-oxidation status is increasingly recognized as a primary regulator of cellular growth and development. The relative reduction-oxidation state of the cell depends primarily on the precise balance between concentrations of reactive oxygen species and the cysteine-dependent antioxidant thiol buffers glutathione and thioredoxin, which by preferentially reacting with reactive oxygen species, protect other intracellular molecules from oxidative damage. The transsulfuration pathway constitutes the major route of cysteine biosynthesis, and may thus be central in controlling the intracellular reduction-oxidation state and the balance between self-renewal and differentiation programs. This review discusses new findings on reciprocal reduction-oxidation modulation of enzymes involved in the transsulfuration and ...
Abstract. Traditionally, hydrogen sulfide (H2S) was simply considered as a toxic and foul smelling gas, but recently H2S been brought into the spot light of cardiovascular research and development. Since the 1990s, H2S has been mounting evidence of physiological properties such as immune modification, vascular relaxation, attenuation of oxidative stress, inflammatory mitigation, and angiogenesis. H2S has since been recognized as the third physiological gaseous signaling molecule, along with CO and NO [65, 66]. H2S is produced endogenously through several key enzymes, including cystathionine β-lyase (CBE), cystathionine γ-lyase (CSE), and 3-mercaptopyruvate sulfurtransferase (MST)/cysteine aminotransferase (CAT). These specific enzymes are expressed accordingly in various organ systems and CSE is the predominant H2S-producing enzyme in the cardiovascular system. The cystathionine γ-lyase (CSE)/H2S pathway has demonstrated various cardioprotective effects, including anti-atherosclerosis, ...
Abstract. Traditionally, hydrogen sulfide (H2S) was simply considered as a toxic and foul smelling gas, but recently H2S been brought into the spot light of cardiovascular research and development. Since the 1990s, H2S has been mounting evidence of physiological properties such as immune modification, vascular relaxation, attenuation of oxidative stress, inflammatory mitigation, and angiogenesis. H2S has since been recognized as the third physiological gaseous signaling molecule, along with CO and NO [65, 66]. H2S is produced endogenously through several key enzymes, including cystathionine β-lyase (CBE), cystathionine γ-lyase (CSE), and 3-mercaptopyruvate sulfurtransferase (MST)/cysteine aminotransferase (CAT). These specific enzymes are expressed accordingly in various organ systems and CSE is the predominant H2S-producing enzyme in the cardiovascular system. The cystathionine γ-lyase (CSE)/H2S pathway has demonstrated various cardioprotective effects, including anti-atherosclerosis, ...
Homocysteine is an intermediary in the sulphur-amino acid metabolism pathways, linking the methionine cycle to the folate cycle. Several primary and secondary disorders of methionine metabolism may be diagnosed based on measurement of homocysteine in plasma and urine.. Inborn errors that lead to homocysteinemia/-uria involving defects in the primary enzyme include cystathionine synthase deficiency (homocystinuria), methylenetetrahydrofolate reductase deficiency and thermolabile variants, and methionine synthase (MS) deficiency. Genetic defects in vitamin cofactors (vitamin B6, B12, and folate) and nutritional deficiency of B12 and folate also lead to abnormal homocysteine accumulation.. Homocysteine concentration is an indicator of acquired folate or cobalamin deficiency, and is a contributing factor in the pathogenesis of neural tube defects ...
Arecoline is a major alkaloid of areca nut and has been effect on central nervous system. Although arecoline-induced neurotoxicity has been reported, the possible underlying neurotoxic mechanisms have not yet been elucidated. Increasing evidences have shown that both excessive endoplasmic reticulum (ER) stress and disturbance of hydrogen sulfide (H2S) production are involved in the pathophysiology of numerous neurodegenerative diseases. Here, the purpose of present study was to verify whether ER stress and the disturbance of endogenous H2S generation are also involved in arecoline-caused neurotoxicity. We found that treatment of PC12 cells with arecoline induced the down-regulation of cells viability and up-regulation of apoptosis and the activity of caspase-3, indicating the neurotoxic role of arecoline to PC12 cells. In addition, arecoline also increased the expression of Bax (pro-apoptotic protein) and attenuated the expression of Bcl-2 (anti-apoptotic protein) in PC12 cells. Simultaneously,
Background: H2S is a neuromodulator that may inhibit intestinal motility. H2S production in colon is yielded by cystathionine β-synthase (CBS) and cystathionine γ-lyase (CSE) enzymes and sulfate-reducing bacteria (SRB). Toll-like receptors (TLRs) recognize intestinal microbiota. The aim of this work was to evaluate the influence of TLR2 and TLR4 on the endogenous and SRB-mediated synthesis of H2S and its consequences on the colonic motility of mouse. Methods: Muscle contractility studies were performed in colon from WT, Tlr2-/-, and Tlr4-/- mice. The mRNA levels of TLR2, TLR4, CBS, CSE, and SRB were measured by real-time PCR. Free sulfide levels in colon and feces were determined by colorimetric assays. Results: NaHS and GYY4137, donors of H2S, reduced the contractility of colon. Aminooxyacetic acid (AOAA), inhibitor of CBS, and D-L propargylglycine (PAG), inhibitor of CSE, increased the contractility of colon. In vivo treatment with NaHS or GYY4137 inhibited the spontaneous contractions and ...
Hydrogen sulphide or H2S is responsible for the characteristic "sulphur" smell of Rotorua.. There has long been medical and scientific debate about the health impacts of H2S gas in the workplace and residential areas, and this study is the largest ever of associations between ambient H2S and respiratory health. Concentrations of toxic hydrogen sulphide gas can be produced in factories as a by-product of industrial processes, as well as naturally in volcanic and geothermal regions like Rotorua.. The five year study examined a variety of health effects, including asthma, amongst over 1600 adult Rotorua residents. With a population of nearly 60,000, Rotorua is the largest centre anywhere with long term exposure to hydrogen sulphide and is recognised as an ideal place to research the health effects of H2S.. Exposure to H2S was estimated from measurements taken around Rotorua in summer and winter, and then each persons exposure was estimated from where they lived and worked. H2S exposure was divided ...
The discourse relative to the legal responsibility for using defective drywall and to the nature of the chemicals which emit the hydrogen sulfide will undoubtedly continue for a long time. However, the basic fact that hydrogen sulfide is toxic and exposure to it is harmful in not questioned. Therefore, it is incumbent on all the responsible parties to immediately stop the exposure of people to HYDROGEN SULFIDE to prevent recurring harm to their health and damage to their property.. The toxicity of hydrogen sulfide is manifested in two different mechanisms: A. HYDROGEN SULFIDE reacts with the iron in the blood and depletes it and thus can have negative impact on the respiratory function of the body and the transfer of oxygen. This effect is more dangerous when the exposed people are old, children or infants, pregnant woman and people with respiratory issues, and, B. Chronic exposure even to minute concentrations of HYDROGEN SULFIDE (and sulfur oxides) reduce the resistance of the lungs to viral ...
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Tripatara, P., Patel, N.S.A., Brancaleone, V., Renshaw, D., Rocha, J., Sepodes, B., Mota-Filipe, H., Perretti, M. and Thiemermann, C. 2009. Characterisation of cystathionine gamma-lyase/hydrogen sulphide pathway in ischaemia/reperfusion injury of the mouse kidney: an in vivo study. European Journal of Pharmacology. 606 (1-3), pp. 205-209. doi:10.1016/j.ejphar.2009.01.041 Annexin 1 mediates the rapid anti-inflammatory effects of neutrophil-derived microparticles ...
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...Hydrogen sulfide (H2S) may play a wide-ranging role in staving off agi... H2S has been gaining increasing attention as an important endogenous ...Hydrogen sulfide is produced within the human body and has a variety ...The gene klotho which appears to be upregulated by hydrogen sulfide...,Hydrogen,sulfide:,The,next,anti-aging,agent?,biological,biology news articles,biology news today,latest biology news,current biology news,biology newsletters
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Abhisam informs us that they have released a free course on Hydrogen Sulfide (Hydrogen Sulphide, H2S) that can be taken online on their new learning portal at Anybody can freely register and get immediate access to this excellent course. The course details are available here at https://prettygoodcourses.com/courses/hydrogen-sulfide/ The course consists of the following […]. Continue Reading ...
This highly reliable, cost effective Hydrogen Sulphide sensor, amplifier and enclosure is designed to fit into any current controller or BMS system.
Many oil fields, especially mature ones, can produce high levels of hydrogen sulphide, which is deadly at even low concentrations. As drilling and completions are often in remote locations, getting to the nearest hospital in time to respond to an exposure event could be impossible. It is always crucial to be able to detect the gas as soon as possible when a leak occurs, in even the most challenging conditions.
How the gas is prepared Topic: Production of Hydrogen sulphide where is this terrible smell coming from? It is like rotten eggs, haa is so terrible. John
What are the market opportunities and threats faced by the vendors in the Hydrogen Sulphide? Get in-depth details about factors influencing the market shares of the important regions like United States, Asia-Pacific, United Kingdom, France & Germany?
Hydrogen sulphide can create ill-health effects if it is inhaled, swallowed, or if it comes in contact with eyes, skin, nose or throat ...
Hydrogen sulfide is an extremely dangerous gas that naturally occurs in and around oil and natural gas wells. Removing it from the wellhead is essential to the safety of workers around the jobsite.. Arclin has engineered a triazine-based hydrogen sulfide scavenger that interacts with hydrogen sulfide gases to form a nonvolatile compound that can be removed from the job site safely and easily. And Arclins H2S scavenger contains no measurable free formaldehyde.. ...
TY - JOUR. T1 - Hydrogen sulfide and cancer. AU - Hellmich, Mark. AU - Szabo, Csaba. PY - 2015. Y1 - 2015. N2 - Recent studies revealed increased expression of various hydrogen sulfide (H2S)- producing enzymes in cancer cells of various tissue types, and new roles of H2S in the pathophysiology of cancer have emerged. This is particularly evident in cancers of the colon and ovaries, where the malignant cells both overexpress cystathionine-β-synthase (CBS) and produce increased amounts of H2S, which enhances tumor growth and spread by (a) stimulating cellular bioenergetics, (b) activating proliferative, migratory, and invasive signaling pathways, and (c) enhancing tumor angiogenesis. Importantly, in preclinical models of these cancers, either pharmacological inhibition or genetic silencing of CBS was shown to be sufficient to suppress cancer cell bioenergetics in vitro, inhibit tumor growth and metastasis in vivo, and enhance the antitumor efficacy of frontline chemotherapeutic agents, providing ...
Hydrogen sulfide (H2S), a well-known poisonous gas, has been recognized as a critical endogenous gas transmitter in the past decade. To provide a quick and efficient detection method for hydrogen sulfide, a novel fluorescent probe DCI-NCN was designed based on an isophoronitrile scaffold featured with the cyanoxy g
Hydrogen Sulfide Gas. Describe H 2 S gas and where it is found:. Hydrogen Sulfide is a highly toxic gas often associated with operations involving decomposing organic material (rotting plant and animal tissues). Slideshow 6763227 by socorro-xovi
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Complete information for CNNM4 gene (Protein Coding), Cyclin And CBS Domain Divalent Metal Cation Transport Mediator 4, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
Complete information for CNNM2 gene (Protein Coding), Cyclin And CBS Domain Divalent Metal Cation Transport Mediator 2, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
The material in this post is extracted from Chapter 5 - Chemicals - of the book Plant Design and Operations. Hydrogen Sulfide (H2S) is a highly toxic chemical compound that is found in a wide variety of oil processing operations. High concentrations of H2S may be present in crude oil, molten sulfur, tank and pit-bottom…
Low-cost monitoring and analysis for household and office hydrogen sulfide levels. Simple color change alerts users. Additional analysis available through API Laboratories.
Low-cost monitoring and analysis for household and office hydrogen sulfide levels. Simple color change alerts users. Additional analysis available through API Laboratories.
My name is Hayley and I am 17 years old. I have B6 non-responsive homocystinuria, which means I am constantly taking medication and must maintain a low-protein diet. Although this can be difficult at times, I am alive and well. Having HCU has not stopped me from doing many of the things that other 17…. ...
The homocysteine test measures the homocysteine blood level. Get a homocysteine lab test near you at a reasonable cost - Accesa Labs
The homocysteine test measures the homocysteine blood level. Get a homocysteine lab test near you at a reasonable cost - Accesa Labs
Theres a take-off of the industry slogan, "Beef: Its Whats For Dinner" - "Beef: Its Whats Rotting in Your Colon." I saw this on a shirt once with some friends and I was such the party pooper--no pun intended--explaining....... ...
TY - JOUR. T1 - Role of Hydrogen Sulfide as a Gasotransmitter in Modulating Contractile Activity of Circular Muscle of Rat Jejunum. AU - Nagao, Munenori. AU - Duenes, Judith A.. AU - Sarr, Michael G.. PY - 2012/2. Y1 - 2012/2. N2 - Aim: Our aim was to determine mechanisms of action of the gasotransmitter hydrogen sulfide (H 2S) on contractile activity in circular muscle of rat jejunum. Methods: Jejunal circular muscle strips were prepared to measure isometric contractions. Effects of sodium hydrosulfide (NaHS), a H 2S donor, were evaluated on spontaneous contractile activity and after pre-contraction with bethanechol. l-Cysteine was evaluated as an endogenous H 2S donor. We evaluated extrinsic nerves, enteric nervous system, visceral afferent nerves, nitric oxide, K + ATP and K + CA channels, and myosin light chain phosphatase on action of H 2S using non-adrenergic/non-cholinergic conditions, tetrodotoxin, capsaicin, l-N G-nitro arginine (l-NNA), glibenclamide, apamin, and calyculin A, ...
In eukaryotes, hydrogen sulfide (H2S) acts as a signaling molecule and cytoprotectant. It modulates synaptic transmission, relaxes smooth muscle, and regulates a release of insulin, endoplasmic reticulum stress and apoptosis. H2S also protects neurons and cardiac muscle from oxidative stress and ischemia reperfusion injury. H2S is known to be produced from L-cysteine by cystathionine β-synthase (CBS), cystathionine γ-lyase (CSE), and 3-mercaptopyruvate sulfurtransferase (3MST) coupled with cysteine aminotransferase (CAT). Here we report an additional biosynthetic pathway for the production of H2S from D-cysteine involving 3MST and D-amino acid oxidase (DAO). Unlike the L-cysteine pathway, this D-cysteine-dependent pathway seems to operate predominantly in the cerebellum and the kidney. Our study revealed that administration of D-cysteine protected primary cultures of cerebellar neurons from oxidative stress induced by H2O2 and attenuated ischemia-reperfusion injury in the kidney more than ...
When you have constant, non-stop whooshing in your head (no, not just tinnitus), youve been diagnosed with Classical Ehlers-Danlos syndrome (CEDS) 3x, but genetic testing came back negative, and the EDS world really doesnt know what you have - other than you have some kind of connective tissue disorder thats not Marfan Syndrome, VEDS, or other more common mutations …… They do know that you have 2 CBS Gene mutations and a few other genetic mutations, but they havent determined how any, if at all, play a role in a type of EDS, or a connective tissue disorder that "looks like" Classical/Vascular/Hypermobility-types of EDS. And theres no identified genetic marker(s) for Hypermobility type Doctors and genetic testing has also determined that you have 2 CBS Gene mutations and a few other genetic mutations, but they havent determined how any, if at all, play a role in a type of EDS, or a connective tissue disorder that "looks like" Classical/Vascular/Hypermobility-types of EDS. And theres no ...
Disease and Homocysteine Concentration. Dogs in the heart disease, neoplastic disease, kidney disease, and skin disease groups had significantly higher plasma Hcy concentrations than control dogs. However,multivariate logistic regression analyses adjusted for age, sex, and spay/neuter status revealed that Hcy concentration was only associated with skin disease when these other variables were included in the model. The odds ratio per 1 μmol/l increase in Hcy was 1.077, 95% confidence interval (CI) 1.001-1.158, p,0.05. In the control group (n=187), the mean plasma Hcy concentration was 13.5 ± 0.4 μmol/l (first quartile-median-third quartile 9.6-12.8-16.0, and min-max 4.3-50.1 μmol/l). In the skin disease group (n=16), the mean plasma Hcy concentration was 20.3 ± 2.3 μmol/l (first quartile-median-third quartile 13.8-19.3-23.3, and min-max 9.7-49.8 μmol/l). The skin disease group included five Shih Tzus and 11 other dogs of nine different breeds. However, our finding that Hcy ...
Cardiovascular morbidity and mortality is high in CKD patients. Nitric oxide (NO) deficiency plays a crucial role in progression of CKD. This leads to endothelial dysfunction, hypertension, and inflammation. Hydrogen sulfide (H2S) could serve as a backup mechanism for NO deficiency in CKD. N-acetylcysteine (NAC) is a derivate of cysteine and this is the main substrate for H2S production. Therefore, NAC should enable us to stimulate H2S production in humans. Our objective is to investigate the effect of NAC on plasma H2S levels and on markers of oxidative stress, inflammation, and endothelial dysfunction in healthy volunteers, CKD patients, and dialysis patients. We hypothesize that there is an increase in H2S levels after treatment with NAC ...
Hyperhomocysteinemia is not uncommon in diabetic patients and it can aggravate cardiovascular diseases. The mechanism of this increased hyperhomocysteinemia prevalence is vague but it is suggested that, insulin plays a role in the regulation of plasma homocysteine and, insulin resistance causes hyperhomocysteinemia (18). Besides, the mechanisms that cause peripheral and/or autonomic neuropathy are complex and are not yet fully understood. Hypothetically, homocysteine can also contribute to the neuropathy development through neurovascular disruption or through direct toxic effect (8). In some studies in this field, it has been shown that there could be a link between hyperhomocysteinemia and autonomic or peripheral neuropathy (8,24). According to recent data, hyperhomocysteinemia can be a significant risk factor for cardiovascular diseases in the diabetic population (18,25). The relationship between hyperhomocysteinemia and cardiovascular diseases in patients with type 2 diabetics is 1.6 times ...
Homocysteine has been implicated as a pathogenetic factor in the development of arterial disease in a number of in vitro and experimental animal studies that have demonstrated an association between hyperhomocysteinemia and endothelial cell damage.5 6 7 8 In cell culture experiments, addition of homocysteine into the culture medium induces cell detachment from endothelial cell monolayers6 and functional abnormalities in the release of endothelium-derived NO.7 In nonhuman primates, a continuous homocysteine infusion for 3 months has resulted in patchy endothelial desquamation amounting to 10% of the aortic surface,5 and moderate hyperhomocysteinemia induced by methionine feeding has led to abnormal arterial vasomotor activity.8 In humans, homozygous homocystinuria is a rare disorder usually diagnosed in childhood, associated with markedly accelerated atherosclerosis and thrombosis and with endothelial dysfunction in children as young as 4 years old.13 Sporadic hyperhomocysteinemia, however, may ...
For an in-depth discussion of nutritional approaches to homocysteine reduction, see my new article, Nutritional Therapies for Managing Homocysteine , in the most recent issue of Life Extension magazine. Youll find it at:. http://www.lef.org/magazine/mag2006/oct2006_report_homocysteine_01.htm. The report contains a detailed discussion of how to use foods to control homocysteine levels. Though Im not a homocysteine-crazed fanatic like Life Extension publisher, William Falloon, I still theres some interesting aspects of homocysteine metabolism that need to be explored. I also think theres some genuine benefit to reducing homocystine, preferably with foods, secondarily with supplements.. Also see our recent update on homocysteine on the www.healthcare.gov website at ...
Please click your "Back" button to return to the previous "Upgrade Page") Hydrogen Sulfide (H2S) Safety Program Background: Hydrogen sulfide presents a potential hazard to workers at the work site. It usually occurs as an unwanted by-product and can result in worker exposure in many different industries or occupations. To ensure protection against exposure to hydrogen sulfide, both workers and employers must be aware of its properties, how it affects the body and what to do in emergency situations. The Safety and Health Manager shall ensure that all personnel who will be working at the job site will be properly trained in Hydrogen sulfide awareness and contingency procedures. Occurrence of Hydrogen Sulfide: Hydrogen sulfide exposures usually occur during the drilling for or production of natural gas, crude oil and petroleum products. Hydrogen sulfide is also produced by the putrefication of organic matter and may accumulate in sewers, sewage treatment plants or hide storage pits in the tanning ...
TY - JOUR. T1 - Increase in total plasma homocysteine concentration after cardiac transplantation. AU - Berger, P. B.. AU - Jones, J. D.. AU - Olson, L. J.. AU - Edwards, Brooks Sayre. AU - Frantz, Robert. AU - Rodeheffer, R. J.. AU - Kottke, B. A.. AU - Daly, R. C.. AU - McGregor, C. G A. PY - 1995. Y1 - 1995. N2 - Objective: To determine whether plasma homocysteine concentrations are increased in patients after cardiac transplantation. Design: Total plasma homocysteine concentration was measured in 44 consecutive patients before and at 3, 6, and 12 months after orthotopic heart transplantation between June 1, 1988, and Oct. 15, 1992, and the data were analyzed statistically. Results: Mean homocysteine concentrations (normal range, 4 to 17 μmol/L) increased 70% from 12.5 μmol/L before cardiac transplantation to 21.2 μmol/L (P,0.002) 3 months after transplantation, at which time the concentrations were above normal in 14 of 26 patients (54%). Homocysteine concentrations remained elevated 6 ...
TY - JOUR. T1 - Early-onset combined methylmalonic aciduria and homocystinuria. T2 - Neuroradiologic findings. AU - Rossi, A.. AU - Cerone, R.. AU - Biancheri, R.. AU - Gatti, R.. AU - Schiaffino, M. C.. AU - Fonda, C.. AU - Zammarchi, E.. AU - Tortori-Donati, P.. PY - 2001. Y1 - 2001. N2 - BACKGROUND AND PURPOSE: Combined methylmalonic aciduria and homocystinuria (MMA-HC) is caused by impaired hepatic conversion of dietary cobalamin to methylcobalamin and adenosylcobalamin, resulting in decreased activity of methylmalonyl-CoA mutase and methionine synthase. Patients with the early-onset variety present within 12 months of age with severe neurologic, hematologic, and gastrointestinal abnormalities. We describe the neuroradiologic features of early-onset MMA-HC and discuss related pathophysiological mechanisms. METHODS: Twelve infants with hypotonia, failure to thrive, poor feeding, and hematologic abnormalities were diagnosed with MMA-HC on the basis of a typical plasmatic and urinary metabolic ...
We previously reported that the endogenous cystathionine gamma-lyase (CSE)/hydrogen sulfide (H(2)S) pathway is implicated in the pathogenesis of bleomycin-induced pulmonary fibrosis in rats, but the exact cellular mechanisms are not well characterized. Epithelial-mesenchymal transition (EMT), induced by transforming growth factor beta 1 (TGF-beta 1) in alveolar epithelial cells, plays an important role in the pathogenesis of pulmonary fibrosis. We studied whether H(2)S could attenuate EMT in cultured alveolar epithelial cells and TGF-beta 1 treatment suppressed CSE expression in A549 cells. Inhibition of endogenous CSE by DL-propargylglycine led to spontaneous EMT, as manifested by decreased E-cadherin level, increased vimentin expression and fibroblast-like morphologic features. Exogenous H(2)S applied to TGF-beta 1-treated A549 cells decreased vimentin expression, increased E-cadherin level and retained epithelial morphologic features. In addition, preincubation with H(2)S decreased Smad2/3 ...
... cystathionine beta synthase; CGL: cystathionine gamma-lyase; DHF: dihydrofolate (vitamin B9); DMG: dimethylglycine; dTMP: ... It is the one-carbon donor for thymidylate synthase, for methylation of 2-deoxy-uridine-5-monophosphate (dUMP) to 2-deoxy- ... methionine synthase; MTHFR: methylenetetrahydrofolate reductase; SAH: S-adenosyl-L-homocysteine; SAME: S-adenosyl-L-methionine ... is necessary for the biosynthesis of thymidine and is the C1-donor in the reactions catalyzed by TS and thymidylate synthase ( ...
1993). "Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency". PMID 20301697. Yeowell HN, Steinmann B. Ehlers-Danlos ...
This allows cystathionine beta synthase (CBS) mediated generation of H2S. The protection against the damage caused by ...
Cystathionine beta synthase deficiency Retinoschisis Retinal regeneration Moore's lightning streaks Fraser, S; Steel, D (24 ...
Cystathionine beta-synthase then combines homocysteine and serine to form the asymmetrical thioether cystathionine. The enzyme ... cystathionine gamma-lyase converts the cystathionine into cysteine and alpha-ketobutyrate. In plants and bacteria, cysteine ...
Ge Y, Jensen TL, Matherly LH, Taub JW (December 2002). "Synergistic regulation of human cystathionine-beta-synthase-1b promoter ...
It was first identified as a conserved sequence region in 1997 and named after cystathionine beta synthase, one of the proteins ... For example, mutations in the cystathionine-beta-synthase protein lead to an inherited disorder of the metabolism called ... Shan X, Dunbrack RL, Christopher SA, Kruger WD (March 2001). "Mutations in the regulatory domain of cystathionine beta synthase ... The CBS domain is composed of a beta-alpha-beta-beta-alpha secondary structure pattern that is folded into a globular tertiary ...
Shin JH, Weitzdoerfer R, Fountoulakis M, Lubec G (2004). "Expression of cystathionine beta-synthase, pyridoxal kinase, and ES1 ...
... is derived from cysteine by the enzymes cystathionine beta-synthase, cystathionine gamma-lyase, and 3- ...
Singh, S.; Padovani, D.; Leslie, R.A.; Chiku, T.; Banerjee, R. (2009) Relative contributions of cystathionine beta-synthase and ... Lanthionine ketimine also binds the brain protein lanthionine synthase-like protein-1 (LANCL1), a glutathione-binding protein ... that lanthionine ketimine forms from alternative reactions of the transsulfuration pathway enzyme cystathionine-β-synthase, ... The product of these transformations is lanthionine or cystathionine ketimine, respectively. Additional sources of lanthionine ...
Caused by Cystathionine Beta-Synthase Deficiency Paper and discussion on Homocystinuria due to Cystathionine Beta Synthase ... Classical homocystinuria, also known as cystathionine beta synthase deficiency or CBS deficiency, is an inherited disorder of ... often involving cystathionine beta synthase. It is an inherited autosomal recessive trait, which means a child needs to inherit ... It is caused by the deficiency of the enzyme cystathionine beta synthase, and the deficiency of folic acid, vitamin B12 and ...
Specifically, the γ subunit includes four particular Cystathionine beta synthase (CBS) domains giving AMPK its ability to ... STRAD alpha/beta and MO25 alpha/beta are upstream kinases in the AMP-activated protein kinase cascade". J. Biol. 2 (4): 28. doi ... The interaction of CaMKK2 with AMPK only involves the alpha and beta subunits of AMPK (AMPK gamma is absent from the CaMKK2 ... Conversely, in LKB1 knockout mice, there are decreases in cytochrome c and citrate synthase activity, even if the mice are " ...
Cystathionine beta synthase deficiency, also known as homocystinuria, is an autosomal recessive inherited disorder in which the ... Reduced osmotic pressure will trigger the liver to produce more proteins like fibrinogen and beta-thromboglobulin, which ...
EC 4.4.1 Cystathionine gamma-lyase Cystathionine beta-lyase Leukotriene C4 synthase Category:EC 4.5.1 Dichloromethane ... CTP synthase (EC 6.3.4.2) Pyruvate carboxylase (EC 6.4.1.1) Acetyl-CoA carboxylase (EC 6.4.1.2) DNA ligase (EC 6.5.1.1). ... Beta-lactamase (EC 3.5.2.6) Category:EC 3.5.3 (In linear amidines) Arginase (EC 3.5.3.1) Category:EC 3.5.4 (In cyclic amidines ... ATP synthase (EC 3.6.3.14) Kynureninase EC 3.7.1.3 EC 3.8.1.3 Haloacetate dehalogenase Category:EC 4.1.1 Ornithine ...
The gas is produced from cysteine by the enzymes cystathionine beta-synthase and cystathionine gamma-lyase. It acts as a ... The beta cells of the pancreas in type 1 diabetes produce an excess of the gas, leading to the death of these cells and to a ... Alp, Nicholas; Channon (2003). "Regulation of endothelial nitric oxide synthase by tetrahydrobiopterin in vascular disease". ... "Hydrogen sulfide cytoprotective signaling is endothelial nitric oxide synthase-nitric oxide dependent". PNAS. 111 (Early ...
The gas is produced from cysteine by the enzymes cystathionine beta-synthase and cystathionine gamma-lyase. It acts as a ... The beta cells of the pancreas in type 1 diabetes produce an excess of the gas, leading to the death of these cells and to a ... In plants, nitric oxide can be produced by any of four routes: (i) L-arginine-dependent nitric oxide synthase, (although the ... Phagocytes are armed with inducible nitric oxide synthase (iNOS), which is activated by interferon-gamma (IFN-γ) as a single ...
Holzgreve-Wagner-Rehder syndrome Homocarnosinase deficiency Homocarnosinosis Homocystinuria due to cystathionine beta-synthase ...
The CBS domains, named for the protein they were identified in, cystathionine-beta synthase, shown in orange, are identified in ...
... cystathionine-beta-synthase CLDN14: claudin 14 CRYZL1: Crystallin zeta-like 1 CTSB CYYR1: Cysteine and tyrosine rich 1 DIP2A: ... ADAMTS1 APP: amyloid beta (A4) precursor protein (peptidase nexin-II, Alzheimer disease) C21orf45: encoding protein Protein ...
US term Cystathionine beta synthase, an enzyme Coatbridge Sunnyside railway station, Scotland (station code) Columbus (Amtrak ...
Biosynthetically, cystathionine is generated from homocysteine and serine by cystathionine beta synthase (upper reaction in the ... Cystathionine is produced by the transsulfuration pathway which converts homocysteine into cystathionine. The cystathionine is ... Alternately the Cysteine from the cystathionine gamma-lyase CTH gene enzyme can be used by the glutamate-cysteine ligase GCL ... An excess of cystathionine in the urine is called cystathioninuria. ...
Other members include cystathionine gamma synthase, cystathionine beta lyase, and methionine gamma lyase. It is also a member ... Cystathionine gamma lyase also shows gamma-synthase activity depending on the concentrations of reactants present. The ... The beta carbon is then deprotonated, creating an alpha-beta unsaturation and pushing a lone pair onto the aldimine nitrogen. ... Cystathionine gamma-lyase (CTH or CSE; also cystathionase) is an enzyme which breaks down cystathionine into cysteine, α- ...
Other members include cystathionine gamma-synthase, cystathionine gamma-lyase, and methionine gamma lyase. Additionally, these ... As shown in the mechanism below, cystathionine beta-lyase facilitates the S-C bond cleavage in cystathionine with the use of a ... with cystathionine λ-synthase from plant and bacterial sources and cystathionine λ-lyase from Saccharomyces cerevisiae. All of ... Cystathionine beta-lyase (EC 4.4.1.8), also commonly referred to as CBL or β-cystathionase, is an enzyme that primarily ...
... (CBS) is involved in oocyte development. However, little is known about the regional and cellular ... Absence of Cystathionine beta synthase in mice provokes infertility due to the loss of uterine protein expression. ... Liang R, Yu WD, Du JB, Yang LJ, Shang M, Guo JZ (November 2006). "Localization of cystathionine beta synthase in mice ovaries ... Münke M, Kraus JP, Ohura T, Francke U (1988). "The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region ...
... cystathionine beta-synthase MeSH D08.811.520.241.300.250 --- enoyl-coa hydratase MeSH D08.811.520.241.300.300 --- fumarate ... riboflavin synthase MeSH D08.811.913.225.825 --- spermidine synthase MeSH D08.811.913.225.912 --- spermine synthase MeSH ... nitric oxide synthase type i MeSH D08.811.682.664.500.772.500 --- nitric oxide synthase type ii MeSH D08.811.682.664.500.772. ... 4-beta-glucosidase MeSH D08.811.277.450.420.200.600 --- glucan endo-1,3-beta-d-glucosidase MeSH D08.811.277.450.420.375 --- ...
"Slow-binding inhibition of Escherichia coli cystathionine beta-lyase by L-aminoethoxyvinylglycine: a kinetic and X-ray study". ... aminocyclopropanecarboxylic acid synthase, aminocyclopropanecarboxylate synthase, ACC synthase, and S-adenosyl-L-methionine ... In most ACC Synthase producing cells, ACC Synthase exists as a dimer. However, in some we find a monomer ("which is more active ... ACC synthase reaches optimal activity in conditions of pH 8.5 and with Km = 20 um relative to its substrate, SAM. ACC Synthase ...
Cystathionine beta synthase. *Porphobilinogen synthase. *3-Isopropylmalate dehydratase. *Urocanase. *Uroporphyrinogen III ...
Cystathionine beta synthase. *Porphobilinogen synthase. *3-Isopropylmalate dehydratase. *Urocanase. *Uroporphyrinogen III ...
Learn more about Cystathionine Beta-synthase Deficiency Disease from related diseases, pathways, genes and PTMs with the Novus ... Cystathionine Beta-synthase Deficiency Disease is also known as Cbs Deficiencies, Cbs Deficiency, Cystathionine Beta-synthase ... Cystathionine Beta-synthase Deficiency Disease: Disease Bioinformatics. Research of Cystathionine Beta-synthase Deficiency ... CYSTATHIONINE BETA SYNTHASE, MAT1A, APOA1. Cystathionine Beta-synthase Deficiency Disease Bioinformatics Tool. Laverne is a ...
Yap, S. and Naughten, E. (1998) Homocystinuria due to cystathionine beta-synthase deficiency in Ireland: 25 years experience ... often involves the change of cystathionine beta synthase activity. This disorder leads to a multi-systemic disease of the ... 2015) Enzymatic diagnosis of homocystinuria by determination of cystathionine-β-synthase activity in plasma using LC-MS/MS. ... Bártl, J., Chrastina, P., Krijt, J., Hodík, J., Pešková, K. and Kožich, V. (2014) Simultaneous determination of cystathionine, ...
Cystathionine beta synthase (CBS) is involved in oocyte development. However, little is known about the regional and cellular ... Absence of Cystathionine beta synthase in mice provokes infertility due to the loss of uterine protein expression. ... Liang R, Yu WD, Du JB, Yang LJ, Shang M, Guo JZ (November 2006). "Localization of cystathionine beta synthase in mice ovaries ... Münke M, Kraus JP, Ohura T, Francke U (1988). "The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region ...
... STRUCTURE OF HUMAN CYSTATHIONINE BETA-SYNTHASE: A UNIQUE PYRIDOXAL 5-PHOSPHATE DEPENDENT ... Wellcome Trust Sanger Institute Page on Cystathionine beta-synthase domain *Cystathionine beta-Synthase: Protein Data Bank ... Tryptophan synthase - Cystathionine beta synthase - Porphobilinogen synthase - 3-isopropylmalate dehydratase - Urocanate ... Methionine adenosyltransferase - Adenosylhomocysteinase - (or MTR) - Cystathionine beta synthase - Cystathionine gamma-lyase. ...
Cystathionine beta synthase catalyzes the upper reaction and cystathionine gamma-lyase catalyzes the lower reaction. ... Cystathionine beta-synthase in BRENDA: The Comprehensive Enzyme Information System[permanent dead link] ... 1999). "Cystathionine beta-synthase mutations in homocystinuria". Hum. Mutat. 13 (5): 362-75. doi:10.1002/(SICI)1098-1004(1999) ... Absence of Cystathionine beta synthase in mice provokes infertility due to the loss of uterine protein expression.[15] ...
cystathionine-beta-synthase , cystathionine beta-synthase , cystathionine beta-synthase CBS , beta-thionase , hemoprotein H-450 ... Weitere Antikörper gegen Cystathionine-beta-Synthase Interaktionspartner. Chimpanzee Cystathionine-beta-Synthase (CBS) ... Am meisten referenzierte anti-Cystathionine-beta-Synthase Antikörper. Show all anti-Cystathionine-beta-Synthase (CBS) ... Zusätzlich bieten wir Ihnen Cystathionine-beta-Synthase Kits (19) und Cystathionine-beta-Synthase Proteine (15) und viele ...
Sen S, Banerjee R: A pathogenic linked mutation in the catalytic core of human cystathionine beta-synthase disrupts allosteric ... L-Cystathionine. 56-88-2. C7H14N2O4S. 222.262. 222.067427636. Not Available. ...
Recombinant Cystathionine-beta-Synthase (CBS) Protein (GST tag). Spezies: Human. Quelle: Wheat germ. Jetzt Produkt ABIN1348191 ... Cystathionine-beta-Synthase (CBS) (AA 1-551), (full length) protein (GST tag). Details zu Produkt Nr. ABIN1348191, Anbieter: ... Cystathionine-beta-Synthase (CBS) (AA 1-551), (full length) protein (GST tag) Produktdetails lesen ... Cystathionine-beta-Synthase (CBS) (AA 1-551), (full length) protein (GST tag) Produktdetails lesen ...
What is cystathionine beta-synthase? Meaning of cystathionine beta-synthase medical term. What does cystathionine beta-synthase ... Looking for online definition of cystathionine beta-synthase in the Medical Dictionary? cystathionine beta-synthase explanation ... Cystathionine beta-synthase , definition of cystathionine beta-synthase by Medical dictionary https://medical-dictionary. ... a href=https://medical-dictionary.thefreedictionary.com/cystathionine+beta-synthase,cystathionine beta-synthase,/a,. * ...
Synonyms: Homocystinuria due to cystathionine beta-synthase deficiency, classic homocystinuria, cystathionine beta-synthase ... Homocystinuria due to cystathionine beta-synthase deficiency, classic homocystinuria, cystathionine beta-synthase deficiency). ... Homocystinuria due to cystathionine beta-synthase deficiency, classic homocystinuria, cystathionine beta-synthase deficiency) ... Cystathionine beta-synthase is an enzyme that converts homocysteine to cystathionine in the transulfuration pathway. It ...
Mice deficient in cystathionine beta-synthase: animal models for mild and severe homocysteinemia. Proc Natl Acad Sci. U S A . ... Age-related changes in visual function in cystathionine-beta-synthase mutant mice, a model of hyperhomocysteinemia. Exp Eye Res ... Using young mice that lack a key enzyme in the transsulfuration pathway, cystathionine-beta-synthase, we have observed retinal ... Alterations of Retinal Vasculature in Cystathionine-Beta-Synthase Mutant Mice, a Model of Hyperhomocysteinemia ...
Basis of Cystathionine beta-Synthase Deficiency in Dutch Patients with Homocystinuria: Effect of CBS Genotype on Biochemical ... Bao L, Vlcek C, Paces V, Kraus JP (1998) Identification and tissue distribution of human cystathionine beta-synthase messenger- ... Cystathionine beta-synthase mutations in homocystinuria. Hum Mutat 13: 362-75 TOP ... heme and pyridoxal phosphate cofactors of human cystathionine beta-synthase reveals nonequivalent active sites [In Process ...
... a review of the scientific literature that led to the Guidelines for Diagnoses and Management of Cystathionine Beta-Synthase ... Save the Date: Webinar on Guidelines on Diagnoses and Managment of Cystathionine Beta-Synthase Deficiency. ... a review of the scientific literature that led to the Guidelines for Diagnoses and Management of Cystathionine Beta-Synthase ...
Genetic studies of the cystathionine beta-synthase gene and myelomeningocele Melissa M Tilley 1 , Hope Northrup, Kit Sing Au ... Genetic studies of the cystathionine beta-synthase gene and myelomeningocele Melissa M Tilley et al. Birth Defects Res A Clin ... The protective effect provided by FA suggests that the genes involved in folate metabolism, such as cystathionine beta-synthase ... Novel cystathionine β-synthase gene mutations in a Filipino patient with classic homocystinuria. Silao CL, Fabella TD, Rama KI ...
The rat MHC and cystathionine beta-synthase gene are syntenic on chromosome 20.. ... The rat MHC and cystathionine beta-synthase gene are syntenic on chromosome 20. ... Assignment of the rat genes coding for medium-chain acyl-CoA dehydrogenase, isovaleryl-CoA dehydrogenase, and the beta subunit ...
Association of cystathionine beta-synthase polymorphisms and aneurysmal subarachnoid hemorrhage.. Hendrix P1, Foreman PM2, ... cystathionine beta-synthase; mRS = modified Rankin Scale; outcome; polymorphism; subarachnoid hemorrhage; vascular disorders ... OBJECTIVE Cystathionine β-synthase (CBS) is involved in homocysteine and hydrogen sulfide (H2S) metabolism. Both products have ... ADC = apparent diffusion coefficient; CARAS = Cerebral Aneurysm Renin Angiotensin System; CBS = cystathionine β-synthase; DCI ...
... cystathionine beta synthase; CGL: cystathionine gamma-lyase; DHF: dihydrofolate (vitamin B9); DMG: dimethylglycine; dTMP: ... It is the one-carbon donor for thymidylate synthase, for methylation of 2-deoxy-uridine-5-monophosphate (dUMP) to 2-deoxy- ... methionine synthase; MTHFR: methylenetetrahydrofolate reductase; SAH: S-adenosyl-L-homocysteine; SAME: S-adenosyl-L-methionine ... is necessary for the biosynthesis of thymidine and is the C1-donor in the reactions catalyzed by TS and thymidylate synthase ( ...
Cystathionine beta-synthase. CK. Creatine kinase. GNMT. Glycine N-methyltransferase. MAT. Methionine adenosyltransferase ... cystathionine β-synthase (E.C.4.2.1.22); MS, methionine synthase (5-MTHF-homocysteine methyltransferase) (E.C.2.1.1.13); BHMT, ... N5-methyltetrahydrofolate-homocysteine methyltransferase and cystathionine gamma-lyase activity (Barić et al 2016). The ...
Cystathionine β-synthase genetic variant rs2124459 is associated with a reduced risk of cleft palate in French and Belgian ... Cystathionine β-synthase genetic variant rs2124459 is associated with a reduced risk of cleft palate in French and Belgian ...
This involves culturing amniotic cells or chorionic villi to test for cystathionine synthase (the enzyme that is missing in ...
Devi, KS and Devi, AR and Kondaiah, P (1998) Amplification of phenylalanine hydroxylase and cystathionine beta-synthase ... Amplification of phenylalanine hydroxylase and cystathionine beta-synthase transcripts in human peripheral lymphocytes by RT- ... illegitimate transcription; phenylalanine hydroxylase; phenylketonuria;cystathionine beta-synthase; homocystinuria;reverse ... and cystathionine beta-synthase (CBS) mRNAs in peripheral lymphocytes were used as templates for amplification by RT-PCR. The ...
CystathionineCystathionine beta-Synthase • Cysteine • Cytoplasm • Cytosol • Data Interpretation, Statistical • Developmental ... Leduc, D; Escartin, F; Nijhout, HF; Reed, MC; Liebl, U; Skouloubris, S; Myllykallio, H, Flavin-dependent thymidylate synthase ... Thymidylate Synthase • Time Factors • Tissue Extracts • Transaminases • Transcription Factors • Transcription, Genetic • ...
With most cases of homocystinuria, the enzyme cystathionine beta-synthase (CBS) does not work. As a result, the amino acids ... The most common form is called cystathionine beta-synthase (CBS). CBS differs from other types of homocystinuria because it ... Sacharow, S. J., Picker, J. D., & Levy, H. L. (2017, May 18). Homocystinuria caused by cystathionine beta-synthase deficiency. ... Kniffin, C. L. (2016, August 3). Homocystinuria due to cystathionine beta-synthase deficiency. Retrieved from http://omim.org/ ...
... was incorporated into heme proteins including membrane-bound cytochromes and an expressed human cystathionine beta-synthase ( ... Cystathionine beta-synthase; Respiration ...
2. Cystathionine beta-synthase. General function:. Involved in cysteine biosynthetic process from serine. Specific function:. ... Cystathionine beta-synthase mutations in homocystinuria. Hum Mutat. 1999;13(5):362-75. [PubMed:10338090 ] ... In conditions in which cystathionine gamma-synthase or cystathionase is deficient, for example, there is cystathioninuria. ... L-Cystathionine. Description. Cystathionine is a dipeptide formed by serine and homocysteine. Cystathioninuria is a prominent ...
  • cystathionine beta synthase (CBS) domain-containing proteins (CDCPs) may be implicated in abiotic stress tolerance in plants. (mdpi.com)
  • Sen S, Banerjee R: A pathogenic linked mutation in the catalytic core of human cystathionine beta-synthase disrupts allosteric regulation and allows kinetic characterization of a full-length dimer. (hmdb.ca)
  • In this method, illegitimately transcribed phenylalanine hydroxylase (PAH) and cystathionine beta-synthase (CBS) mRNAs in peripheral lymphocytes were used as templates for amplification by RT-PCR. (iisc.ac.in)
  • Although cystathionine has not been detected in normal human serum or plasma by most conventional methods, gas chromatographic/mass spectrometric methodology detected a mean concentration of cystathionine in normal human serum of 140 nM, with a range of 65 to 301 nM. (hmdb.ca)
  • Hypoxia-inducible factors regulate human and rat cystathionine β-synthase gene expression. (abnova.com)
  • Assignment of the rat genes coding for medium-chain acyl-CoA dehydrogenase, isovaleryl-CoA dehydrogenase, and the beta subunit of propionyl-CoA carboxylase to chromosomes 2, 3, and 8, respectively. (ac.be)