Page last updated: 2024-08-23

s-adenosylmethionine and CBS Deficiency

s-adenosylmethionine has been researched along with CBS Deficiency in 28 studies

Research

Studies (28)

TimeframeStudies, this research(%)All Research%
pre-19903 (10.71)18.7374
1990's2 (7.14)18.2507
2000's8 (28.57)29.6817
2010's12 (42.86)24.3611
2020's3 (10.71)2.80

Authors

AuthorsStudies
Caggana, M; Cohen-Pfeffer, JL; Diaz, GA; Kirmse, BM; McGuire, PJ; Morrissey, MA; Salveson, BR; Sunny, S; Wasserstein, MP; Weisfeld-Adams, JD; Yu, C1
Alberti, C; Benoist, JF; de Baulny, HO; Feillet, F; Garcia-Segarra, N; Guilmin-Crépon, S; Haignere, J; Imbard, A; Kaguelidou, F; Kuster, A; Magréault, S; Perronneau, I; Schiff, M; Schlemmer, D; Toumazi, A1
Kožich, V; Stabler, S1
Bottiglieri, T; Caudill, MA; Cosín-Tomás, M; Leclerc, D; Luan, Y; Malysheva, OV; Rozen, R; Wasek, B1
Huse, K; Olecka, M; Platzer, M1
Bahous, RH; Bedell, BJ; Caudill, MA; Cosín-Tomás, M; Deng, L; Ho, MK; Kaliman, P; Leclerc, D; Malysheva, O; Pallàs, M; Rozen, R1
Blom, HJ; Colaço, HG; Janssen, MC; Kluijtmans, LA; Leandro, P; Mendes, MI; Pop, A; Ramos, RJ; Rivera, I; Salomons, GS; Smith, DE; Tavares de Almeida, I; van Dooren, SJ1
Dayal, S; French, SW; Geng, Y; Halsted, CH; Hodzic, E; Kharbanda, KK; LaSalle, JM; Medici, V; Peerson, J; Schroeder, DI; Shibata, NM; Tillman, B; Tsukamoto, H; Woods, R1
Blom, HJ; Colaço, HG; de Almeida, IT; Leandro, P; Lino, PR; Mendes, MI; Rivera, I; Salomons, GS; Santos, AS; Smith, DE; Vicente, JB1
Kraus, JP; Majtan, T; Pey, AL1
Andrews, AJ; Gupta, S; Kruger, WD; Kuo, YM; Lee, HO; Li, YS; Slifker, MJ; Wang, L1
Blom, HJ; Boulanger, Y; Debray, FG; Decarie, JC; Jakobs, C; Khiat, A; Lambert, M; Levy, E; Lortie, A; Mitchell, GA; Orquin, J; Ramos, F; Roy, MS; Struys, E; Verhoeven, NM1
Hnízda, A; Kluijtmans, LA; Kopecká, J; Kožich, V; Krijt, J; Mayne, P; Moat, S1
Banerjee, R; Xie, P; Yadav, PK1
Kraus, JP; Majtan, T; Pey, AL; Sanchez-Ruiz, JM1
Caudill, M; Jiang, X; Mikael, LG; Pancer, J; Rozen, R; Wu, Q1
Favier, A; Galan, P; Guilland, JC; Hercberg, S; Potier de Courcy, G1
Allen, RH; Bodamer, O; Kozich, V; Kraus, JP; Kvasnicka, J; Orendác, M; Stabler, SP; Stöckler-Ipsiroglu, S; Zeman, J1
Blom, HJ; Boers, GH; Heil, SG; Riksen, NP; Smulders, Y1
Banerjee, R; Sen, S1
Benevenga, NJ2
Blom, HJ; Boers, GH; Kluijtmans, LA; Kraus, JP; Renier, WO; Stevens, EM; Trijbels, FJ; van den Heuvel, LP1
Banerjee, R; Kabil, O1
Finkelstein, JD1
Christopher, SA; James, SJ; Kruger, WD; Melnyk, S1
Cotton, RC; Danks, DM; Goldsmith, D; Patrick, MG1
Abou-Saleh, MT; Coppen, A1

Reviews

5 review(s) available for s-adenosylmethionine and CBS Deficiency

ArticleYear
Lessons Learned from Inherited Metabolic Disorders of Sulfur-Containing Amino Acids Metabolism.
    The Journal of nutrition, 2020, 10-01, Volume: 150, Issue:Suppl 1

    Topics: Amino Acids, Sulfur; Animals; Brain Diseases; Cysteine; Glutathione; Homocysteine; Homocystinuria; Humans; Hydrogen Sulfide; Liver; Metabolic Diseases; Metabolism, Inborn Errors; Methionine; Methionine Adenosyltransferase; Methylation; S-Adenosylmethionine; Sulfites; Sulfur; Sulfur Compounds

2020
[Hyperhomocysteinemia: an independent risk factor or a simple marker of vascular disease?. 1. Basic data].
    Pathologie-biologie, 2003, Volume: 51, Issue:2

    Topics: Animals; Arteriosclerosis; Biomarkers; Cystathionine beta-Synthase; Folic Acid Deficiency; Genetic Predisposition to Disease; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Methionine; Methylation; Methylenetetrahydrofolate Reductase (NADPH2); Models, Biological; Nitric Oxide; Oxidative Stress; Oxidoreductases Acting on CH-NH Group Donors; Rats; Risk Factors; S-Adenosylmethionine; Signal Transduction; Thrombophilia; Vascular Diseases; Vasodilation; Vitamin B 6 Deficiency

2003
Evidence for alternative pathways of methionine catabolism.
    Advances in nutritional research, 1984, Volume: 6

    Topics: Animals; Betaine; Carbon Dioxide; Choline; Decarboxylation; Diet; Homocystinuria; Humans; Liver; Methionine; Models, Biological; Oxidation-Reduction; Propionates; S-Adenosylmethionine; Sarcosine; Transaminases

1984
Homocysteine: a history in progress.
    Nutrition reviews, 2000, Volume: 58, Issue:7

    Topics: History, 19th Century; History, 20th Century; Homocysteine; Homocystinuria; Humans; Insulin; Methionine; Neural Tube Defects; North America; Research; S-Adenosylmethionine; Workforce

2000
The biology of folate in depression: implications for nutritional hypotheses of the psychoses.
    Journal of psychiatric research, 1986, Volume: 20, Issue:2

    Topics: Anorexia Nervosa; Biogenic Amines; Brain; Depressive Disorder; Diet; Folic Acid; Folic Acid Deficiency; Homocystinuria; Humans; Models, Theoretical; Pellagra; Pterins; S-Adenosylmethionine; Schizophrenia; Tryptophan; Vitamin B 12 Deficiency

1986

Trials

1 trial(s) available for s-adenosylmethionine and CBS Deficiency

ArticleYear
Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial.
    Orphanet journal of rare diseases, 2022, 11-14, Volume: 17, Issue:1

    Topics: Betaine; Child; Cystathionine beta-Synthase; Homocysteine; Homocystinuria; Humans; Methionine; Prospective Studies; S-Adenosylmethionine; Vitamin B 12 Deficiency

2022

Other Studies

22 other study(ies) available for s-adenosylmethionine and CBS Deficiency

ArticleYear
Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.
    Molecular genetics and metabolism, 2010, Volume: 99, Issue:2

    Topics: Algorithms; Carnitine; Demography; False Positive Reactions; Female; Follow-Up Studies; Genetic Association Studies; Homocystinuria; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Methionine; Methylmalonic Acid; Neonatal Screening; New York; Propionates; Referral and Consultation; Vitamin B 12

2010
Moderate Folic Acid Supplementation in Pregnant Mice Results in Altered Methyl Metabolism and in Sex-Specific Placental Transcription Changes.
    Molecular nutrition & food research, 2021, Volume: 65, Issue:14

    Topics: Animals; Dietary Supplements; DNA Methylation; Female; Folic Acid; Gene Expression; Homocystinuria; Liver; Male; Methylenetetrahydrofolate Reductase (NADPH2); Mice; Mice, Inbred C57BL; Muscle Spasticity; Phthalic Acids; Placenta; Pregnancy; Psychotic Disorders; S-Adenosylmethionine; Sex Factors; Transcriptome

2021
The high degree of cystathionine β-synthase (CBS) activation by S-adenosylmethionine (SAM) may explain naked mole-rat's distinct methionine metabolite profile compared to mouse.
    GeroScience, 2018, Volume: 40, Issue:4

    Topics: Animals; Cystathionine; Cystathionine beta-Synthase; Enzyme Activation; Homocysteine; Homocystinuria; Methionine; Mice; Mole Rats; S-Adenosylhomocysteine; S-Adenosylmethionine

2018
Early Manifestations of Brain Aging in Mice Due to Low Dietary Folate and Mild MTHFR Deficiency.
    Molecular neurobiology, 2019, Volume: 56, Issue:6

    Topics: Aging; Amyloid beta-Peptides; Animals; Anxiety; Brain; Cell Survival; Cerebral Cortex; Choline; CpG Islands; Diet; DNA Methylation; Epigenesis, Genetic; Folic Acid; Glutamic Acid; Homocystinuria; Liver; Male; Memory Disorders; Memory, Short-Term; Methylation; Methylenetetrahydrofolate Reductase (NADPH2); Mice, Inbred BALB C; Muscle Spasticity; Nerve Growth Factors; Neurons; Phospholipids; Psychotic Disorders; RNA, Messenger; S-Adenosylmethionine; Synaptic Transmission

2019
Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients.
    Journal of inherited metabolic disease, 2014, Volume: 37, Issue:2

    Topics: Alleles; Cells, Cultured; Cystathionine beta-Synthase; Escherichia coli; Fibroblasts; Genotype; Homocystinuria; Humans; Mutation; Recombinant Proteins; Retrospective Studies; S-Adenosylmethionine

2014
Methylation and gene expression responses to ethanol feeding and betaine supplementation in the cystathionine beta synthase-deficient mouse.
    Alcoholism, clinical and experimental research, 2014, Volume: 38, Issue:6

    Topics: Animals; Betaine; Dietary Supplements; DNA (Cytosine-5-)-Methyltransferase 1; DNA (Cytosine-5-)-Methyltransferases; DNA Methylation; Ethanol; Fatty Liver, Alcoholic; Gene Expression Regulation; Homocystinuria; Liver; Methionine; Mice; Mice, Inbred C57BL; Nitric Oxide Synthase Type II; PPAR alpha; S-Adenosylhomocysteine; S-Adenosylmethionine

2014
Insights into the regulatory domain of cystathionine Beta-synthase: characterization of six variant proteins.
    Human mutation, 2014, Volume: 35, Issue:10

    Topics: Allosteric Site; Amino Acid Sequence; Catalytic Domain; Cystathionine beta-Synthase; Homocystinuria; Humans; Kinetics; Mutation; Protein Structure, Tertiary; Recombinant Proteins; S-Adenosylmethionine

2014
Kinetic stability of cystathionine beta-synthase can be modulated by structural analogs of S-adenosylmethionine: Potential approach to pharmacological chaperone therapy for homocystinuria.
    Biochimie, 2016, Volume: 126

    Topics: Cystathionine beta-Synthase; Enzyme Stability; Homocystinuria; Humans; Kinetics; S-Adenosylmethionine

2016
Lack of global epigenetic methylation defects in CBS deficient mice.
    Journal of inherited metabolic disease, 2017, Volume: 40, Issue:1

    Topics: Animals; Cystathionine beta-Synthase; Disease Models, Animal; DNA; DNA Methylation; Epigenesis, Genetic; Epigenomics; Homocysteine; Homocystinuria; Kidney; Liver; Mice; S-Adenosylhomocysteine; S-Adenosylmethionine

2017
Reduced brain choline in homocystinuria due to remethylation defects.
    Neurology, 2008, Jul-01, Volume: 71, Issue:1

    Topics: Adolescent; Adult; Aspartic Acid; Brain; Brain Chemistry; Child; Child, Preschool; Choline; Choline Deficiency; Creatine; Female; Homocysteine S-Methyltransferase; Homocystinuria; Humans; Magnetic Resonance Spectroscopy; Male; Methylation; S-Adenosylmethionine

2008
Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency.
    Journal of inherited metabolic disease, 2011, Volume: 34, Issue:1

    Topics: Blood Chemical Analysis; Calibration; Case-Control Studies; Chromatography, Liquid; Cystathionine beta-Synthase; Enzyme Stability; Homocystinuria; Humans; Immunoenzyme Techniques; Plasma; Pyridoxal Phosphate; S-Adenosylmethionine; Tandem Mass Spectrometry

2011
Allosteric communication between the pyridoxal 5'-phosphate (PLP) and heme sites in the H2S generator human cystathionine β-synthase.
    The Journal of biological chemistry, 2012, Nov-02, Volume: 287, Issue:45

    Topics: Allosteric Regulation; Binding Sites; Cystathionine beta-Synthase; Heme; Homocystinuria; Humans; Hydrogen Peroxide; Iron; Isomerism; Kinetics; Mutation; Oxidation-Reduction; Protein Carbonylation; Pyridoxal Phosphate; S-Adenosylmethionine; Spectrometry, Fluorescence; Threonine

2012
Human cystathionine β-synthase (CBS) contains two classes of binding sites for S-adenosylmethionine (SAM): complex regulation of CBS activity and stability by SAM.
    The Biochemical journal, 2013, Jan-01, Volume: 449, Issue:1

    Topics: Binding Sites; Cystathionine beta-Synthase; Enzyme Activation; Homocystinuria; Humans; Protein Binding; Protein Stability; S-Adenosylmethionine

2013
Low dietary folate and methylenetetrahydrofolate reductase deficiency may lead to pregnancy complications through modulation of ApoAI and IFN-γ in spleen and placenta, and through reduction of methylation potential.
    Molecular nutrition & food research, 2013, Volume: 57, Issue:4

    Topics: Animals; Apolipoprotein A-I; Betaine; Choline; Diet; Female; Folic Acid; Folic Acid Deficiency; Homocysteine; Homocystinuria; Interferon-gamma; Liver; Male; Methylation; Methylenetetrahydrofolate Reductase (NADPH2); Mice; Mice, Inbred BALB C; Mice, Transgenic; Muscle Spasticity; Placenta; Pregnancy; Pregnancy Complications; Psychotic Disorders; S-Adenosylhomocysteine; S-Adenosylmethionine; Spleen

2013
Homocystinuria due to cystathionine beta-synthase deficiency: novel biochemical findings and treatment efficacy.
    Journal of inherited metabolic disease, 2003, Volume: 26, Issue:8

    Topics: Adolescent; Adult; Child; Child, Preschool; Female; Homocystinuria; Humans; Male; S-Adenosylhomocysteine; S-Adenosylmethionine

2003
DNA methylation status is not impaired in treated cystathionine beta-synthase (CBS) deficient patients.
    Molecular genetics and metabolism, 2007, Volume: 91, Issue:1

    Topics: Chromatography, Liquid; Cystathionine beta-Synthase; DNA; DNA Methylation; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; S-Adenosylhomocysteine; S-Adenosylmethionine; Sequence Analysis, DNA; Spectrometry, Mass, Electrospray Ionization

2007
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.
    Biochemistry, 2007, Apr-03, Volume: 46, Issue:13

    Topics: Allosteric Regulation; Amino Acid Sequence; Catalytic Domain; Cystathionine beta-Synthase; Dimerization; Homocystinuria; Humans; Models, Molecular; Protein Conformation; Protein Structure, Quaternary; S-Adenosylmethionine

2007
Consideration of betaine and one-carbon sources of N5-methyltetrahydrofolate for use in homocystinuria and neural tube defects.
    The American journal of clinical nutrition, 2007, Volume: 85, Issue:4

    Topics: Betaine; Dietary Supplements; Folic Acid; Homocysteine; Homocystinuria; Humans; Methionine; Methylation; Neural Tube Defects; Nutritional Physiological Phenomena; S-Adenosylmethionine; Tetrahydrofolates; Vitamin B Complex

2007
Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient.
    The Journal of clinical investigation, 1996, Jul-15, Volume: 98, Issue:2

    Topics: Adult; Amino Acid Sequence; Asparagine; Aspartic Acid; Base Sequence; Cystathionine beta-Synthase; DNA; DNA Primers; Female; Gene Expression Regulation, Enzymologic; Heterozygote; Homocystinuria; Homozygote; Humans; Male; Molecular Sequence Data; Pedigree; Point Mutation; Polymerase Chain Reaction; Pyridoxine; Reference Values; S-Adenosylmethionine

1996
Deletion of the regulatory domain in the pyridoxal phosphate-dependent heme protein cystathionine beta-synthase alleviates the defect observed in a catalytic site mutant.
    The Journal of biological chemistry, 1999, Oct-29, Volume: 274, Issue:44

    Topics: Catalytic Domain; Cystathionine beta-Synthase; Hemeproteins; Homocysteine; Homocystinuria; Humans; Models, Molecular; Protein Structure, Tertiary; Pyridoxal Phosphate; S-Adenosylmethionine; Sequence Deletion; Suppression, Genetic

1999
S-adenosylhomocysteine, but not homocysteine, is toxic to yeast lacking cystathionine beta-synthase.
    Molecular genetics and metabolism, 2002, Volume: 75, Issue:4

    Topics: Chromatography, High Pressure Liquid; Culture Media; Cystathionine beta-Synthase; Homocysteine; Homocystinuria; Humans; S-Adenosylhomocysteine; S-Adenosylmethionine; Yeasts

2002
A screening test for sulphur-containing metabolites in urine using auxotrophic mutants of Escherichia coli K12.
    Biochemical medicine, 1975, Volume: 12, Issue:3

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Biological Assay; Cystathionine; Cystinuria; Escherichia coli; Homocystinuria; Humans; Infant, Newborn; Methods; Mutation; S-Adenosylhomocysteine; S-Adenosylmethionine; Sulfur

1975