Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis-Reference-Cited by-同舟云学术

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

Published:2006-12-27 Issue:8 Volume:109 Page:3567-3569
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Pondarre Corinne¹,Campagna Dean R.¹,Antiochos Brendan¹,Sikorski Lindsay¹,Mulhern Howard¹,Fleming Mark D.¹²

Affiliation:

1. Department of Pathology, Children's Hospital Boston, and

2. Harvard Medical School, Boston, MA

Abstract

AbstractX-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.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/109/8/3567/1291504/zh800807003567.pdf

Reference20 articles.

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2. Bekri S, Kispal G, Lange H, et al. Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation. Blood2000; 96:3256–3264.

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