|1.||Desnick, Robert J: 3 articles (01/2013 - 01/2012)|
|2.||Balwani, Manisha: 3 articles (01/2013 - 01/2012)|
|3.||Takahashi, Toru: 3 articles (04/2005 - 01/2003)|
|4.||Morita, Kiyoshi: 3 articles (04/2005 - 01/2003)|
|5.||Akagi, Reiko: 3 articles (04/2005 - 01/2003)|
|6.||Harigae, Hideo: 2 articles (02/2014 - 12/2010)|
|7.||Kaneko, Kiriko: 2 articles (02/2014 - 03/2009)|
|8.||Shibahara, Shigeki: 2 articles (02/2014 - 03/2009)|
|9.||Furuyama, Kazumichi: 2 articles (02/2014 - 03/2009)|
|10.||Beaumont, Carole: 2 articles (08/2011 - 06/2011)|
08/11/2011 - "The discovery of a new type of erythroid porphyria, X-linked dominant protoporphyria (XLDPP), which results from increased activity of 5-aminolevulinate synthase 2 (ALAS2), the rate-controlling enzyme of erythroid heme synthesis, led us to hypothesize that the CEP phenotype may be modulated by sequence variations in the ALAS2 gene. "
02/01/2000 - "Except for the first enzyme of the pathway, delta-aminolevulinate synthase (ALAS), deficiencies in seven other enzymes are associated with the various forms of porphyria (Fig. "
01/01/2000 - "The tissue-specific expression of porphyrias is largely due to the tissue-specific control of heme pathway gene expression, particularly at the level of delta-aminolevulinate synthase, the first and the rate-limiting enzyme of heme biosynthesis. "
12/01/1984 - "BNF-treated birds had higher delta-aminolevulinic acid-synthetase (ALA-S) activities and developed porphyria much more rapidly than birds treated with HCB alone. "
10/16/1970 - "The excessive induction of hepatic delta-aminolevulinic acid synthetase in rats after the administration of porphyria-inducing compounds is prevented by prior treatment with phenobarbital. "
06/01/2011 - "The most common cause of non-syndromic, microcytic sideroblastic anemia is a defect in the X-linked 5-aminolevulinate synthase 2 gene but this is not always present. "
01/01/1976 - "[A family of hereditary refractory sideroblastic anemia with markedly reduced delta-aminolevulinic acid synthetase activity in bone marrow erythroblasts]."
07/01/1974 - "Bone marrow delta-aminolevulinic acid synthetase activity in experimental sideroblastic anemia."
02/01/1973 - "Aminolevulinic acid synthetase activity in erythroblasts of patients with primary sideroblastic anemia."
01/01/1973 - "Delta-aminolevulinic acid synthetase activity in normal human bone marrow and in patients with idiopathic sideroblastic anemia."
|3.||Hepatic Porphyrias (Hepatic Porphyria)
07/01/1981 - "Some types of therapy of the hepatic porphyrias are effective because of their ability to modulate the activity of delta-aminolevulinic acid synthetase, the rate-limiting enzyme for heme synthesis. "
10/18/1978 - "This simple method should facilitate screening for those drugs which induce the synthesis of delta-aminolevulinate synthase and/or cytochrome P-450 and are potentially dangerous to patients with hereditary hepatic porphyria."
10/01/1971 - "Polychlorinated biphenyls as inducers of hepatic porphyria in Japanese quail, with special reference to -aminolevulinic acid synthetase activity, fluorescence, and residues in the liver."
10/01/1972 - "Intermittent acute porphyria has recently been distinguished biochemically from other genetic hepatic porphyrias by the observation of diminished hepatic uroporphyrinogen I synthetase activity and increased delta-aminolevulinic acid synthetase activity. "
07/16/1985 - "Heme administration causes inhibition of delta-aminolevulinate synthase (ALAS), best tested in the allylisopropylacetamide (AIA)-treated rat, a model for hepatic porphyrias. "
03/10/1994 - "The recently identified gene for an erythroid-specific 5-aminolevulinate synthase isoenzyme and its localization to the X chromosome make it likely that one or more defects in this gene underlie the anemia. "
09/01/1977 - "Increased erythrocyte uroporphyrinogen-l-synthetase, delta-aminolevulinic acid dehydratase and protoporphyrin in hemolytic anemias."
01/01/1988 - "A procedure is described for preparing a fraction highly enriched for chicken blood delta-aminolevulinate synthase (ALA-S) using animals recovering from acetylphenylhydrazine-induced anemia. "
07/01/1980 - "The susceptibility to the protease of apo-delta-aminolevulinic acid synthetase prepared from erythroblasts of patients with this type was within the normal range, in contrast to that of pyridoxine-responsive anemia. "
11/01/1979 - "delta-Aminolevulinic acid synthetase activity in erythroblasts of patients with this disease before treatment was extremely decreased, whereas it gradually increased in parallel with the improvement of anemia by the therapy with pyridoxal phosphate. "
05/01/2005 - "Iron overload in an African American woman with SS hemoglobinopathy and a promoter mutation in the X-linked erythroid-specific 5-aminolevulinate synthase (ALAS2) gene."
01/01/2008 - "X-linked sideroblastic anemia (XLSA) is associated with iron overload and mutations in ALAS2, which encodes 5-aminolevulinate synthase. "
05/01/2005 - "We report the case of an African American woman with sickle cell anemia and iron overload incompletely explained by erythrocyte transfusion who is heterozygous for a promoter mutation in the X-linked erythroid-specific 5-aminolevulinate synthase gene (ALAS2): a C to G transversion at nucleotide -206 from the transcription start site, as defined by primer extension (-258 from the start ATG). "
03/01/1999 - "Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis."
01/01/2012 - "These advances include DNA-based diagnoses for all the porphyrias, new understanding of the pathogenesis of the acute hepatic porphyrias, identification of the iron overload-induced inhibitor of hepatic uroporphyrin decarboxylase activity that causes the most common porphyria, porphyria cutanea tarda, the identification of an X-linked form of erythropoietic protoporphyria due to gain-of-function mutations in erythroid-specific 5-aminolevulinate synthase (ALAS2), and new and experimental treatments for the erythropoietic prophyrias. "
|5.||Cytochrome P-450 Enzyme System (Cytochrome P450)
|6.||X-linked sideroblastic anemia
|9.||Heme Oxygenase (Decyclizing) (Heme Oxygenase)
|4.||Transplantation (Transplant Recipients)