| Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis. | |
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MedLine Citation:
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PMID: 17192398 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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Corinne Pondarre; Dean R Campagna; Brendan Antiochos; Lindsay Sikorski; Howard Mulhern; Mark D Fleming |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't Date: 2006-12-27 |
Journal Detail:
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Title: Blood Volume: 109 ISSN: 0006-4971 ISO Abbreviation: Blood Publication Date: 2007 Apr |
Date Detail:
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Created Date: 2007-04-05 Completed Date: 2007-05-23 Revised Date: 2009-11-18 |
Medline Journal Info:
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Nlm Unique ID: 7603509 Medline TA: Blood Country: United States |
Other Details:
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Languages: eng Pagination: 3567-9 Citation Subset: AIM; IM |
Affiliation:
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Department of Pathology, Children's Hospital Boston, 320 Longwood Avenue, Boston, MA 02115, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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ATP-Binding Cassette Transporters
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genetics*,
metabolism Anemia, Sideroblastic / genetics*, metabolism, pathology Animals Genetic Diseases, X-Linked / genetics*, metabolism, pathology Hematopoiesis / genetics* Heme / biosynthesis, genetics Humans Mice Mice, Knockout Mitochondria / genetics, metabolism, ultrastructure Mutation* Spinocerebellar Ataxias / genetics*, metabolism, pathology |
| Grant Support | |
ID/Acronym/Agency:
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DK 62474/DK/NIDDK NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/ABCB7 protein, human; 0/ATP-Binding Cassette Transporters; 14875-96-8/Heme |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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