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Bishop, David F; Tchaikovskii, Vassili; Hoffbrand, A Victor et al. (2012) X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the ýý-subunit of succinyl-CoA synthetase (SUCLA2). J Biol Chem 287:28943-55
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Bekri, Soumeya; May, Alison; Cotter, Philip D et al. (2003) A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia. Blood 102:698-704
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Cazzola, Mario; May, Alison; Bergamaschi, Gaetano et al. (2002) Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation. Blood 100:4236-8
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Cazzola, M; May, A; Bergamaschi, G et al. (2000) Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females. Blood 96:4363-5
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Aizencang, G I; Bishop, D F; Forrest, D et al. (2000) Uroporphyrinogen III synthase. An alternative promoter controls erythroid-specific expression in the murine gene. J Biol Chem 275:2295-304
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Bekri, S; Kispal, G; Lange, H et al. (2000) Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation. Blood 96:3256-64
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Cotter, P D; May, A; Li, L et al. (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. Blood 93:1757-69
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May, A; Bishop, D F (1998) The molecular biology and pyridoxine responsiveness of X-linked sideroblastic anaemia. Haematologica 83:56-70
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Cotter, P D; Drabkin, H A; Varkony, T et al. (1995) Assignment of the human housekeeping delta-aminolevulinate synthase gene (ALAS1) to chromosome band 3p21.1 by PCR analysis of somatic cell hybrids. Cytogenet Cell Genet 69:207-8
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Cotter, P D; May, A; Fitzsimons, E J et al. (1995) Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts. J Clin Invest 96:2090-6
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