Associated Papers
Evolution of the human mitochondrial ABCB7 [2Fe-2S](GS)4 cluster exporter and the molecular mechanism of an E433K disease-causing mutation.
Pearson SA et al.
Archives of Biochemistry and Biophysics, 2021
Dimeric ferrochelatase bridges ABCB7 and ABCB10 homodimers in an architecturally defined molecular complex required for heme biosynthesis.
Maio N et al.
Haematologica, 2019
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
Brain iron homeostasis: from molecular mechanisms to clinical significance and therapeutic opportunities.
Singh N et al.
Antioxidants & Redox Signaling, 2014
Disruption of the ATP-binding cassette B7 (ABTM-1/ABCB7) induces oxidative stress and premature cell death in Caenorhabditis elegans.
González-Cabo P et al.
The Journal of Biological Chemistry, 2011
Human iron-sulfur cluster assembly, cellular iron homeostasis, and disease.
Ye H et al.
Biochemistry, 2010
RNA silencing of the mitochondrial ABCB7 transporter in HeLa cells causes an iron-deficient phenotype with mitochondrial iron overload.
Cavadini P et al.
Blood, 2007
Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis.
Pondarre C et al.
Blood, 2007
X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L.
Maguire A et al.
British Journal of Haematology, 2001
Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation.
Bekri S et al.
Blood, 2000
Clinical and biochemical genetics of the lipidoses.
Kolodny EH
Seminars in Hematology, 1972
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