Page last updated: 2024-08-23

heme and Homocystinuria

heme has been researched along with Homocystinuria in 8 studies

Research

Studies (8)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	0 (0.00)	18.2507
2000's	2 (25.00)	29.6817
2010's	5 (62.50)	24.3611
2020's	1 (12.50)	2.80

Authors

Authors	Studies
Aarsand, AK; Aguilera, P; Brunet, M; Deulofeu, R; García-Villoria, J; Gómez-Gómez, À; Pozo, OJ; Sandberg, S; To-Figueras, J; Wijngaard, R	1
Hnízda, A; Janošík, M; Kopecká, J; Kožich, V; Krijt, J; Melenovská, P; Raková, K; Wilcken, B	1
Handa, H; Kabe, Y; Kajimura, M; Kobayashi, T; Koike, I; Nakamura, T; Ohmura, M; Suematsu, M; Sugiura, Y; Tokumoto, Y; Tsugawa, H; Yamamoto, T	1
Boydston, EA; Davies, MW; Dimster-Denk, D; Fink, L; Lin, XX; Mayfield, JA; McCarthy, S; Meighan, M; Narain, AS; Pleskac, N; Rine, J	1
Burstyn, JN; Kraus, JP; Majtan, T; Smith, AT; Stevens, DJ; Su, Y	1
Banerjee, R; Xie, P; Yadav, PK	1
Burkhard, P; Kraus, JP; Meier, M; Oliveriusova, J	1
Janosík, M; Janosíková, B; Kozich, V; Kraus, E; Kraus, JP; Oliveriusová, J; Sokolová, J	1

Reviews

2 review(s) available for heme and Homocystinuria

Article	Year
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

Article

Year

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

Article	Year
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