Associated Papers
ATP-Binding Cassette Transporter of Clinical Significance: Sideroblastic Anemia.
Ogunbileje JO et al.
Journal of Personalized Medicine, 2024
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
Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort.
Fouquet C et al.
British Journal of Haematology, 2019
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Crystal structures of nucleotide-free and glutathione-bound mitochondrial ABC transporter Atm1.
Srinivasan V et al.
Science (new York, N.y.), 2014
Inherited mitochondrial disorders.
Finsterer J
Advances in Experimental Medicine and Biology, 2012
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
Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.
Wang LL et al.
Basic & Clinical Pharmacology & Toxicology, 2011
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Human iron-sulfur cluster assembly, cellular iron homeostasis, and disease.
Ye H et al.
Biochemistry, 2010
Mitochondrial ataxias.
Finsterer J
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2009
Ataxias with autosomal, X-chromosomal or maternal inheritance.
Finsterer J
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2009
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
Diagnosis and management of early- and late-onset cerebellar ataxia.
Brusse E et al.
Clinical Genetics, 2007
The mitochondrial ATP-binding cassette transporter Abcb7 is essential in mice and participates in cytosolic iron-sulfur cluster biogenesis.
Pondarré C et al.
Human Molecular Genetics, 2006
Deficiency of glutaredoxin 5 reveals Fe-S clusters are required for vertebrate haem synthesis.
Wingert RA et al.
Nature, 2005
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
Clinical and biochemical genetics of the lipidoses.
Kolodny EH
Seminars in Hematology, 1972