Page last updated: 2024-08-23

heme and Homocystinuria

heme has been researched along with Homocystinuria in 8 studies

Research

Studies (8)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's2 (25.00)29.6817
2010's5 (62.50)24.3611
2020's1 (12.50)2.80

Authors

AuthorsStudies
Aarsand, AK; Aguilera, P; Brunet, M; Deulofeu, R; García-Villoria, J; Gómez-Gómez, À; Pozo, OJ; Sandberg, S; To-Figueras, J; Wijngaard, R1
Hnízda, A; Janošík, M; Kopecká, J; Kožich, V; Krijt, J; Melenovská, P; Raková, K; Wilcken, B1
Handa, H; Kabe, Y; Kajimura, M; Kobayashi, T; Koike, I; Nakamura, T; Ohmura, M; Suematsu, M; Sugiura, Y; Tokumoto, Y; Tsugawa, H; Yamamoto, T1
Boydston, EA; Davies, MW; Dimster-Denk, D; Fink, L; Lin, XX; Mayfield, JA; McCarthy, S; Meighan, M; Narain, AS; Pleskac, N; Rine, J1
Burstyn, JN; Kraus, JP; Majtan, T; Smith, AT; Stevens, DJ; Su, Y1
Banerjee, R; Xie, P; Yadav, PK1
Burkhard, P; Kraus, JP; Meier, M; Oliveriusova, J1
Janosík, M; Janosíková, B; Kozich, V; Kraus, E; Kraus, JP; Oliveriusová, J; Sokolová, J1

Reviews

2 review(s) available for heme and Homocystinuria

ArticleYear
Cystathionine β-synthase and PGRMC1 as CO sensors.
    Free radical biology & medicine, 2016, Volume: 99

    Topics: Animals; Carbon Monoxide; Cystathionine beta-Synthase; Cytochrome P-450 Enzyme System; ErbB Receptors; Gene Expression Regulation; Heme; Heme Oxygenase-1; Homocystinuria; Humans; Hydrogen Sulfide; Isoenzymes; Membrane Proteins; Protein Multimerization; Receptors, Progesterone; Signal Transduction

2016
Structural insights into mutations of cystathionine beta-synthase.
    Biochimica et biophysica acta, 2003, Apr-11, Volume: 1647, Issue:1-2

    Topics: Binding Sites; Cystathionine beta-Synthase; Dimerization; Heme; Homocystinuria; Humans; Mutation

2003

Other Studies

6 other study(ies) available for heme and Homocystinuria

ArticleYear
Dysregulation of homocysteine homeostasis in acute intermittent porphyria patients receiving heme arginate or givosiran.
    Journal of inherited metabolic disease, 2021, Volume: 44, Issue:4

    Topics: Acetylgalactosamine; Adult; Arginine; Cystathionine beta-Synthase; Female; Folic Acid; Heme; Homeostasis; Homocysteine; Homocystinuria; Humans; Hydroxymethylbilane Synthase; Hyperhomocysteinemia; Male; Methionine; Middle Aged; Porphyria, Acute Intermittent; Pyridoxal Phosphate; Pyrrolidines; Young Adult

2021
Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate.
    Journal of inherited metabolic disease, 2015, Volume: 38, Issue:2

    Topics: Animals; Arginine; Catalytic Domain; CHO Cells; Cricetulus; Cystathionine beta-Synthase; Female; Fibroblasts; Genetic Predisposition to Disease; Heme; Homocystinuria; Homozygote; Humans; Models, Molecular; Molecular Chaperones; Mutation; Phenotype; Protein Conformation; Protein Folding; Proteostasis Deficiencies; Structure-Activity Relationship; Substrate Specificity; Transfection

2015
Surrogate genetics and metabolic profiling for characterization of human disease alleles.
    Genetics, 2012, Volume: 190, Issue:4

    Topics: Alleles; Chromatography, Liquid; Coenzymes; Culture Media; Cystathionine beta-Synthase; Enzyme Activation; Genetic Complementation Test; Genome, Human; Glutathione; Heme; Homocystinuria; Humans; Immunoblotting; Metabolome; Mutation; Phenotype; Plasmids; Saccharomyces cerevisiae; Vitamin B 6

2012
Effect of the disease-causing R266K mutation on the heme and PLP environments of human cystathionine β-synthase.
    Biochemistry, 2012, Aug-14, Volume: 51, Issue:32

    Topics: Catalytic Domain; Circular Dichroism; Cystathionine beta-Synthase; Electron Spin Resonance Spectroscopy; Enzyme Stability; Ferrous Compounds; Heme; Homocystinuria; Humans; Models, Molecular; Mutation; Oxidation-Reduction; Protein Binding; Pyridoxal Phosphate; Spectrometry, Fluorescence; Spectrum Analysis, Raman; Temperature

2012
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
Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria.
    American journal of human genetics, 2001, Volume: 68, Issue:6

    Topics: Adolescent; Adult; Alleles; Blotting, Western; Child; Codon, Nonsense; Codon, Terminator; Cystathionine beta-Synthase; Female; Fibroblasts; Genotype; Heme; Homocystinuria; Humans; Male; Middle Aged; Molecular Sequence Data; Mutation; Mutation, Missense; Polymorphism, Restriction Fragment Length; Protein Binding; Protein Subunits; RNA, Messenger

2001