Page last updated: 2024-08-23

heme and Genetic Diseases, X-Chromosome Linked

heme has been researched along with Genetic Diseases, X-Chromosome Linked in 21 studies

Research

Studies (21)

TimeframeStudies, this research(%)All Research%
pre-19903 (14.29)18.7374
1990's0 (0.00)18.2507
2000's3 (14.29)29.6817
2010's11 (52.38)24.3611
2020's4 (19.05)2.80

Authors

AuthorsStudies
Brown, BL; Taylor, JL1
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, H1
Bertino, F; Chiabrando, D; Tolosano, E1
Bailey, HJ; Bezerra, GA; Bishop, DF; Bulusu, G; Dailey, HA; Desnick, RJ; Foster, WR; Marcero, JR; Padhi, S; Rembeza, E; Roy, A; Yue, WW1
Catena, D; Ferreira, GC; Kong, MJ; Na, I; Uversky, VN1
Fujiwara, T; Harigae, H2
Bayart, S; Callebaut, I; Daher, R; Gouya, L; Kannengiesser, C; Karim, Z; Manceau, H; Mansouri, A; Martelli, A; Moulouel, B; Puy, H1
Holmes-Hampton, G; Kim, KS; Maio, N; Rouault, TA; Singh, A1
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, T1
Berman, JN; Coombs, AJ; Dufay, JN; Fernandez, CV; Fernández-Murray, JP; Gaston, D; Liwski, RS; McMaster, CR; Nasrallah, GK; Prykhozhij, SV; Steele, SL1
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, C1
MINGIOLI, ES; VOGLER, WR1
Fleming, MD1
Bishop, DF; Fraser, ME; Hoffbrand, AV; Margolis, S; Tchaikovskii, V1
GARBY, L; SJOLIN, S; VAHLQUIST, B1
DANIELI, G1
Astner, I; Heinz, DW; Jahn, D; Schubert, WD; Schulze, JO; van den Heuvel, J1
Arosio, P; Biasiotto, G; Cavadini, P; Corrado, M; Derosas, M; Ingrassia, R; Levi, S; Poli, M; Verardi, R; Zanella, I1
Antiochos, B; Campagna, DR; Fleming, MD; Mulhern, H; Pondarre, C; Sikorski, L1

Reviews

5 review(s) available for heme and Genetic Diseases, X-Chromosome Linked

ArticleYear
Structural basis for dysregulation of aminolevulinic acid synthase in human disease.
    The Journal of biological chemistry, 2022, Volume: 298, Issue:3

    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.
    International journal of molecular sciences, 2020, May-26, Volume: 21, Issue:11

    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.
    Free radical biology & medicine, 2019, Volume: 133

    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].
    [Rinsho ketsueki] The Japanese journal of clinical hematology, 2015, Volume: 56, Issue:2

    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.
    Hematology. American Society of Hematology. Education Program, 2011, Volume: 2011

    Topics: Anemia, Sideroblastic; Genetic Diseases, X-Linked; Heme; Humans; Iron; Iron-Sulfur Proteins; Mitochondria; Protein Biosynthesis

2011

Other Studies

16 other study(ies) available for heme and Genetic Diseases, X-Chromosome Linked

ArticleYear
Congenital sideroblastic anemia model due to ALAS2 mutation is susceptible to ferroptosis.
    Scientific reports, 2022, 05-30, Volume: 12, Issue:1

    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.
    Nature communications, 2020, 06-04, Volume: 11, Issue:1

    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.
    International journal of molecular sciences, 2018, 06-28, Volume: 19, Issue:7

    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.
    Molecular genetics and metabolism, 2019, Volume: 128, Issue:3

    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.
    Haematologica, 2019, Volume: 104, Issue:9

    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.
    Biochemical and biophysical research communications, 2014, Nov-07, Volume: 454, Issue:1

    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.
    PLoS genetics, 2016, Volume: 12, Issue:1

    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.
    Blood, 2016, 05-19, Volume: 127, Issue:20

    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.
    Human mutation, 2011, Volume: 32, Issue:6

    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.
    The New England journal of medicine, 1965, Aug-12, Volume: 273, Issue:7

    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).
    The Journal of biological chemistry, 2012, Aug-17, Volume: 287, Issue:34

    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.
    British journal of haematology, 1957, Volume: 3, Issue:1

    Topics: Anemia; Anemia, Hypochromic; Anemia, Sideroblastic; Genetic Diseases, X-Linked; Heme; Humans

1957
[Hypersideremic hypochromic anemia. Recent observations on the biosynthesis of heme].
    Giornale di clinica medica, 1959, Volume: 40

    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.
    The EMBO journal, 2005, Sep-21, Volume: 24, Issue:18

    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.
    Blood, 2007, Apr-15, Volume: 109, Issue:8

    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.
    Blood, 2007, Apr-15, Volume: 109, Issue:8

    Topics: Anemia, Sideroblastic; Animals; ATP-Binding Cassette Transporters; Genetic Diseases, X-Linked; Hematopoiesis; Heme; Humans; Mice; Mice, Knockout; Mitochondria; Mutation; Spinocerebellar Ataxias

2007