heme has been researched along with Genetic Diseases, X-Chromosome Linked in 21 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 3 (14.29) | 18.7374 |
1990's | 0 (0.00) | 18.2507 |
2000's | 3 (14.29) | 29.6817 |
2010's | 11 (52.38) | 24.3611 |
2020's | 4 (19.05) | 2.80 |
Authors | Studies |
---|---|
Brown, BL; Taylor, JL | 1 |
Fujiwara, T; Fukuhara, N; Harigae, H; Ichikawa, S; Igarashi, K; Ishii, Y; Kato, H; Nakamura, Y; Nishizawa, H; Ochi, T; Onishi, Y; Ono, K; Onodera, K; Saito, K; Suzuki, C; Takahashi, N; Yamada, R; Yokoyama, H | 1 |
Bertino, F; Chiabrando, D; Tolosano, E | 1 |
Bailey, HJ; Bezerra, GA; Bishop, DF; Bulusu, G; Dailey, HA; Desnick, RJ; Foster, WR; Marcero, JR; Padhi, S; Rembeza, E; Roy, A; Yue, WW | 1 |
Catena, D; Ferreira, GC; Kong, MJ; Na, I; Uversky, VN | 1 |
Fujiwara, T; Harigae, H | 2 |
Bayart, S; Callebaut, I; Daher, R; Gouya, L; Kannengiesser, C; Karim, Z; Manceau, H; Mansouri, A; Martelli, A; Moulouel, B; Puy, H | 1 |
Holmes-Hampton, G; Kim, KS; Maio, N; Rouault, TA; Singh, A | 1 |
Fujiwara, T; Fukuhara, N; Harigae, H; Ichinohasama, R; Ishizawa, K; Nakajima, M; Nakamura, Y; Niikuni, R; Okamoto, K; Okitsu, Y; Onishi, Y; Takahashi, K; Tanaka, T | 1 |
Berman, JN; Coombs, AJ; Dufay, JN; Fernandez, CV; Fernández-Murray, JP; Gaston, D; Liwski, RS; McMaster, CR; Nasrallah, GK; Prykhozhij, SV; Steele, SL | 1 |
Beaumont, C; Deybach, JC; Dochir, J; Ducamp, S; Fouyssac, F; Garçon, L; Girot, R; Grandchamp, B; Guerci-Bresler, A; Guichard, JF; Heimpel, H; Kannengiesser, C; Leroux, G; Mansuy, L; Matthes, T; Poirel, HA; Puy, H; Talbi, N; Tertian, G; Touati, M; Vermylen, C | 1 |
MINGIOLI, ES; VOGLER, WR | 1 |
Fleming, MD | 1 |
Bishop, DF; Fraser, ME; Hoffbrand, AV; Margolis, S; Tchaikovskii, V | 1 |
GARBY, L; SJOLIN, S; VAHLQUIST, B | 1 |
DANIELI, G | 1 |
Astner, I; Heinz, DW; Jahn, D; Schubert, WD; Schulze, JO; van den Heuvel, J | 1 |
Arosio, P; Biasiotto, G; Cavadini, P; Corrado, M; Derosas, M; Ingrassia, R; Levi, S; Poli, M; Verardi, R; Zanella, I | 1 |
Antiochos, B; Campagna, DR; Fleming, MD; Mulhern, H; Pondarre, C; Sikorski, L | 1 |
5 review(s) available for heme and Genetic Diseases, X-Chromosome Linked
Article | Year |
---|---|
Structural basis for dysregulation of aminolevulinic acid synthase in human disease.
Topics: 5-Aminolevulinate Synthetase; Aminolevulinic Acid; Anemia, Sideroblastic; Animals; Genetic Diseases, X-Linked; Heme; Humans; Structure-Activity Relationship | 2022 |
Hereditary Ataxia: A Focus on Heme Metabolism and Fe-S Cluster Biogenesis.
Topics: Anemia, Sideroblastic; Animals; Ataxia; Friedreich Ataxia; Genetic Diseases, X-Linked; Heme; Humans; Iron-Sulfur Proteins; Retinitis Pigmentosa; Spinocerebellar Ataxias | 2020 |
Molecular pathophysiology and genetic mutations in congenital sideroblastic anemia.
Topics: 5-Aminolevulinate Synthetase; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Heme; Humans; Iron; Iron-Sulfur Proteins; Mitochondria; Mutation | 2019 |
[Update on the biology of heme synthesis in erythroid cells].
Topics: Anemia, Sideroblastic; Animals; Erythroid Cells; Erythropoiesis; Genetic Diseases, X-Linked; Heme; Hemoglobins; Humans; Mitochondria | 2015 |
Congenital sideroblastic anemias: iron and heme lost in mitochondrial translation.
Topics: Anemia, Sideroblastic; Genetic Diseases, X-Linked; Heme; Humans; Iron; Iron-Sulfur Proteins; Mitochondria; Protein Biosynthesis | 2011 |
16 other study(ies) available for heme and Genetic Diseases, X-Chromosome Linked
Article | Year |
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Congenital sideroblastic anemia model due to ALAS2 mutation is susceptible to ferroptosis.
Topics: 5-Aminolevulinate Synthetase; Anemia, Sideroblastic; Erythroblasts; Ferroptosis; Genetic Diseases, X-Linked; Heme; Humans; Iron; Mutation | 2022 |
Human aminolevulinate synthase structure reveals a eukaryotic-specific autoinhibitory loop regulating substrate binding and product release.
Topics: 5-Aminolevulinate Synthetase; Acyl Coenzyme A; Catalysis; Catalytic Domain; Crystallography, X-Ray; Gene Expression Regulation, Enzymologic; Genetic Diseases, X-Linked; Heme; Humans; Kinetics; Molecular Dynamics Simulation; Protein Binding; Protein Conformation; Protein Domains; Protoporphyria, Erythropoietic; Substrate Specificity | 2020 |
Anti-Correlation between the Dynamics of the Active Site Loop and C-Terminal Tail in Relation to the Homodimer Asymmetry of the Mouse Erythroid 5-Aminolevulinate Synthase.
Topics: 5-Aminolevulinate Synthetase; Anemia, Sideroblastic; Animals; Catalytic Domain; Computational Biology; Genetic Diseases, X-Linked; Heme; Humans; Mice; Molecular Dynamics Simulation; Mutation; Protein Multimerization | 2018 |
GLRX5 mutations impair heme biosynthetic enzymes ALA synthase 2 and ferrochelatase in Human congenital sideroblastic anemia.
Topics: 5-Aminolevulinate Synthetase; Aconitate Hydratase; Adolescent; Amino Acid Sequence; Anemia, Sideroblastic; Cell Line, Transformed; Female; Ferrochelatase; Genetic Diseases, X-Linked; Glutaredoxins; Glutathione; Heme; Humans; Mitochondria; Mutation, Missense; Oxidative Stress; Pedigree; Protein Structure, Tertiary | 2019 |
Dimeric ferrochelatase bridges ABCB7 and ABCB10 homodimers in an architecturally defined molecular complex required for heme biosynthesis.
Topics: Anemia, Sideroblastic; ATP-Binding Cassette Transporters; Cation Transport Proteins; Cell Line; Cytosol; DNA Mutational Analysis; Ferrochelatase; Genetic Diseases, X-Linked; HEK293 Cells; HeLa Cells; Heme; Humans; Iron; Iron Overload; Iron Regulatory Protein 2; Mitochondria; Mitochondrial Proteins; Phenotype; Protein Multimerization | 2019 |
Effect of 5-aminolevulinic acid on erythropoiesis: a preclinical in vitro characterization for the treatment of congenital sideroblastic anemia.
Topics: 5-Aminolevulinate Synthetase; Amino Acid Transport Systems; Aminolevulinic Acid; Anemia, Sideroblastic; Animals; Drug Evaluation, Preclinical; Erythroblasts; Erythropoiesis; gamma-Aminobutyric Acid; Gene Knockdown Techniques; Genetic Diseases, X-Linked; Heme; Heme Oxygenase-1; Hemoglobin A; Hemoglobins, Abnormal; Humans; Induced Pluripotent Stem Cells; K562 Cells; Mice; Symporters; Up-Regulation | 2014 |
Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia.
Topics: Anemia, Sideroblastic; Animals; Folic Acid; Genetic Diseases, X-Linked; Glycine; Heme; Hemoglobins; Humans; Mitochondria; Mitochondrial Membrane Transport Proteins; Mutation; Saccharomyces cerevisiae; Zebrafish | 2016 |
Raab SO, Haut A, Cartwright GE, Wintrobe MM. Pyridoxine-responsive anemia. Blood. 1961;18(3):285-302.
Topics: 5-Aminolevulinate Synthetase; Anemia, Sideroblastic; Child; Genetic Diseases, X-Linked; Germ-Line Mutation; Heme; Humans; Male; Pyridoxine; Vitamin B Complex | 2016 |
Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations.
Topics: 5-Aminolevulinate Synthetase; Adult; Amino Acid Substitution; Anemia, Sideroblastic; Child; Female; Gene Expression; Genetic Diseases, X-Linked; Heme; Humans; Infant; Iron; Male; Middle Aged; Mutation, Missense; Protein Conformation; Protoporphyrins; X Chromosome Inactivation | 2011 |
Heme synthesis in pyridoxine-responsive anemia.
Topics: Adult; Anemia, Sideroblastic; Erythrocyte Count; Genetic Diseases, X-Linked; Heme; Hemin; Humans; Male; Pyridoxine; Reticulocytes | 1965 |
X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the β-subunit of succinyl-CoA synthetase (SUCLA2).
Topics: 5-Aminolevulinate Synthetase; Adult; Amino Acid Substitution; Anemia, Sideroblastic; Enzyme Stability; Genetic Diseases, X-Linked; Heme; Humans; Male; Mutation, Missense; Protein Binding; Protoporphyria, Erythropoietic; Succinate-CoA Ligases; Vitamin B 6 | 2012 |
Chronic refractory hypochromic anaemia with disturbed haem-metabolism.
Topics: Anemia; Anemia, Hypochromic; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Heme; Humans | 1957 |
[Hypersideremic hypochromic anemia. Recent observations on the biosynthesis of heme].
Topics: Anemia; Anemia, Hypochromic; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Heme; Humans | 1959 |
Crystal structure of 5-aminolevulinate synthase, the first enzyme of heme biosynthesis, and its link to XLSA in humans.
Topics: 5-Aminolevulinate Synthetase; Acyl Coenzyme A; Amino Acid Sequence; Anemia, Sideroblastic; Binding Sites; Crystallography, X-Ray; Dimerization; Genetic Diseases, X-Linked; Glycine; Heme; Humans; Models, Molecular; Molecular Sequence Data; Mutation; Protein Structure, Quaternary; Pyridoxal Phosphate; Rhodobacter capsulatus; Sequence Alignment; Substrate Specificity | 2005 |
RNA silencing of the mitochondrial ABCB7 transporter in HeLa cells causes an iron-deficient phenotype with mitochondrial iron overload.
Topics: Anemia, Iron-Deficiency; Anemia, Sideroblastic; Ataxia; ATP-Binding Cassette Transporters; Biological Transport; Cytoplasm; Genetic Diseases, X-Linked; HeLa Cells; Heme; Humans; Iron; Iron Overload; Mitochondria; Mitochondrial Proteins; Phenotype; RNA Interference; RNA, Small Interfering | 2007 |
Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis.
Topics: Anemia, Sideroblastic; Animals; ATP-Binding Cassette Transporters; Genetic Diseases, X-Linked; Hematopoiesis; Heme; Humans; Mice; Mice, Knockout; Mitochondria; Mutation; Spinocerebellar Ataxias | 2007 |