Abstract
X-linked sideroblastic anemia with ataxia (XLSA/A) is a rare syndromic form of inherited sideroblastic anemia associated with spinocerebellar ataxia, and is due to mutations in the mitochondrial ATP-binding cassette transporter Abcb7. Here, we show that Abcb7 is essential for hematopoiesis and formally demonstrate that XLSA/A is due to partial loss of function mutations in Abcb7 that directly or indirectly inhibit heme biosynthesis.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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ATP-Binding Cassette Transporters / genetics*
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ATP-Binding Cassette Transporters / metabolism
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Anemia, Sideroblastic / genetics*
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Anemia, Sideroblastic / metabolism
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Anemia, Sideroblastic / pathology
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Animals
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Genetic Diseases, X-Linked / genetics*
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Genetic Diseases, X-Linked / metabolism
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Genetic Diseases, X-Linked / pathology
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Hematopoiesis / genetics*
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Heme / biosynthesis
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Heme / genetics
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Humans
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Mice
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Mice, Knockout
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Mitochondria / genetics
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Mitochondria / metabolism
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Mitochondria / ultrastructure
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Mutation*
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Spinocerebellar Ataxias / genetics*
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Spinocerebellar Ataxias / metabolism
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Spinocerebellar Ataxias / pathology
Substances
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ABCB7 protein, human
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ATP-Binding Cassette Transporters
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Heme