Literature DB >> 17192398

Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis.

Corinne Pondarre1, Dean R Campagna, Brendan Antiochos, Lindsay Sikorski, Howard Mulhern, Mark D Fleming.   

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.

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Year:  2006        PMID： 17192398      PMCID： PMC1852240          DOI： 10.1182/blood-2006-04-015768

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


  19 in total

1.  X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L.

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2.  Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase.

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Journal:  Blood       Date:  2002-12-12       Impact factor: 22.113

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5.  Hereditary sideroblastic anaemia and ataxia: an X linked recessive disorder.

Authors:  R A Pagon; T D Bird; J C Detter; I Pierce
Journal:  J Med Genet       Date:  1985-08       Impact factor: 6.318

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7.  X-linked sideroblastic anaemia with ataxia: another mitochondrial disease?

Authors:  K D Hellier; E Hatchwell; A S Duncombe; J Kew; S R Hammans
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9.  The mitochondrial ATP-binding cassette transporter Abcb7 is essential in mice and participates in cytosolic iron-sulfur cluster biogenesis.

Authors:  Corinne Pondarré; Brendan B Antiochos; Dean R Campagna; Stephen L Clarke; Eric L Greer; Kathryn M Deck; Alice McDonald; An-Ping Han; Amy Medlock; Jeffery L Kutok; Sheila A Anderson; Richard S Eisenstein; Mark D Fleming
Journal:  Hum Mol Genet       Date:  2006-02-08       Impact factor: 6.150

10.  Aberrant iron accumulation and oxidized status of erythroid-specific delta-aminolevulinate synthase (ALAS2)-deficient definitive erythroblasts.

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6.  Mitochondria Biogenesis Modulates Iron-Sulfur Cluster Synthesis to Increase Cellular Iron Uptake.

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Review 7.  Mitochondrial Iron in Human Health and Disease.

Authors:  Diane M Ward; Suzanne M Cloonan
Journal:  Annu Rev Physiol       Date:  2018-11-28       Impact factor: 19.318

8.  Physiologic Expression of Sf3b1(K700E) Causes Impaired Erythropoiesis, Aberrant Splicing, and Sensitivity to Therapeutic Spliceosome Modulation.

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Review 9.  Human iron-sulfur cluster assembly, cellular iron homeostasis, and disease.

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10.  The transporter ABCB7 is a mediator of the phenotype of acquired refractory anemia with ring sideroblasts.

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Journal:  Leukemia       Date:  2012-10-16       Impact factor: 11.528
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