{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["104(9)"],"submitter":["Maio N"],"pubmed_abstract":["Loss-of-function mutations in the ATP-binding cassette (ABC) transporter of the inner mitochondrial membrane, ABCB7, cause X-linked sideroblastic anemia with ataxia, a phenotype that remains largely unexplained by the proposed role of ABCB7 in exporting a special sulfur species for use in cytosolic iron-sulfur (Fe-S) cluster biogenesis. Here, we generated inducible ABCB7-knockdown cell lines to examine the time-dependent consequences of loss of ABCB7. We found that knockdown of ABCB7 led to significant loss of mitochondrial Fe-S proteins, which preceded the development of milder defects in cytosolic Fe-S enzymes. In erythroid cells, loss of ABCB7 altered cellular iron distribution and caused mitochondrial iron overload due to activation of iron regulatory proteins 1 and 2 in the cytosol an"],"journal":["Haematologica"],"pagination":["1756-1767"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6717564"],"repository":["biostudies-literature"],"pubmed_title":["Dimeric ferrochelatase bridges ABCB7 and ABCB10 homodimers in an architecturally defined molecular complex required for heme biosynthesis."],"pmcid":["PMC6717564"],"pubmed_authors":["Maio N","Holmes-Hampton G","Singh A","Kim KS","Rouault TA"],"additional_accession":[]},"is_claimable":false,"name":"Dimeric ferrochelatase bridges ABCB7 and ABCB10 homodimers in an architecturally defined molecular complex required for heme biosynthesis.","description":"Loss-of-function mutations in the ATP-binding cassette (ABC) transporter of the inner mitochondrial membrane, ABCB7, cause X-linked sideroblastic anemia with ataxia, a phenotype that remains largely unexplained by the proposed role of ABCB7 in exporting a special sulfur species for use in cytosolic iron-sulfur (Fe-S) cluster biogenesis. Here, we generated inducible ABCB7-knockdown cell lines to examine the time-dependent consequences of loss of ABCB7. We found that knockdown of ABCB7 led to significant loss of mitochondrial Fe-S proteins, which preceded the development of milder defects in cytosolic Fe-S enzymes. In erythroid cells, loss of ABCB7 altered cellular iron distribution and caused mitochondrial iron overload due to activation of iron regulatory proteins 1 and 2 in the cytosol an","dates":{"release":"2019-01-01T00:00:00Z","publication":"2019 Sep","modification":"2025-04-19T10:26:37.939Z","creation":"2019-09-12T07:04:30Z"},"accession":"S-EPMC6717564","cross_references":{"pubmed":["30765471"],"doi":["10.3324/haematol.2018.214320"]}}