"These data indicate that ABC7 is the causal gene of XLSA/A and that XLSA/A is a mitochondrial disease caused by a mutation in the nuclear genome"

"the human wild-type ABC7 protein was able to complement ATM1 deletion in yeast"

"Introduction of the corresponding mutation into the Saccharomyces cerevisiae ATM1 gene resulted in a partial loss of function of the yeast Atm1 protein"

"Here we demonstrate that ABCB6 is uniquely located in the outer mitochondrial membrane and is required for mitochondrial porphyrin uptake"

"a large approximately 6-fold increase of iron accumulation in the mitochondria"

"The phenotype of the ABCB7-deficient cells was characterized by a strong reduction in proliferation rate that was not rescued by iron supplementation, by evident signs of iron deficiency"

"aconitase activity, particularly that of the cytosolic, IRP1 form, was reduced"

"The cells showed an increase of protoporphyrin IX, a higher sensitivity to H(2)O(2) toxicity, and a reduced activity of mitochondrial superoxide dismutase 2 (SOD2)"

"By combining chemical crosslinking, tandem mass spectrometry and mutational analyses, we characterized a complex formed of ferrochelatase, ABCB7 and ABCB10, and mapped the interfaces of interactions of its components"

"A dimeric ferrochelatase physically bridged ABCB7 and ABCB10 homodimers by binding near the nucleotide-binding domains of each ABC transporter"

"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"

"erythroid cells lacking ABCB7 showed a profound hemoglobinization defect"

"In erythroid cells, loss of ABCB7 altered cellular iron distribution and caused mitochondrial iron overload"

"It has been shown that the yeast mitochondrial transporter Atm1 can export glutathione-coordinated iron-sulfur clusters, [2Fe-2S](SG)4, providing a source of cluster units for cytosolic iron-sulfur cluster assembly systems"

"a functional comparison of native human protein, versus a disease-causing mutant, demonstrates a key role for residue E433 in promoting cluster transport"

"Iron-sulfur cofactors are assembled primarily in mitochondria and are then exported to the cytosol by use of an ABCB7 transporter"

"We isolated a novel human ATP-binding cassette (ABC) transporter cDNA, determined its nucleotide sequence, and designated it human ABC7 (hABC7)"

"The nucleotide sequence was highly homologous to the ATM1 gene in yeast, which encodes an ABC transporter"

"We mapped the hABC7 gene to chromosome Xq13.1-q13.3 by fluorescence in-situ hybridization"

"this product is also likely to be located in the mitochondrial inner membrane"

"ABCB7 exports a mitochondrially generated, glutathione-dependent sulfur/Fe-S intermediate to the cytosol, enabling maturation of cytosolic and nuclear Fe-S proteins"

"Human ABCB7 reconstituted in proteoliposomes shows ATPase stimulation by glutathione and [2Fe-2S](GS)4"

"The structure of AMP-PNP-bound human ABCB7 reveals an inverted V-shaped homodimeric architecture with an inward-facing open conformation"

"Biochemical studies demonstrated that glutathione-bound [2Fe-2S] clusters substantially increase the ATPase activity of ABCB7-type transporters, with a dissociation constant (KD) of approximately 68 uM"

"Conditional deletion of Abcb7 in mice causes a severe block in bone marrow B cell development at the pro-B cell stage, where cells undergo rapid proliferation"

"Structural modeling identified a potential substrate-binding site composed of a conserved arginine-rich region (Arg313, Arg315, Arg317, Arg319 in human ABCB7) that forms a positively-charged pocket capable of binding the negatively charged cluster complex"

"The AMP-PNP-bound human ABCB7 shows an inverted V-shaped homodimeric architecture with an inward-facing open conformation"

"One AMP-PNP molecule and Mg2+ were identified in each nucleotide-binding domain (NBD) of the hABCB7 monomer"

"Conditional deletion of ABCB7 using Mb1-cre resulted in a severe block in bone marrow B cell development at the pro-B cell stage"

"loss of ABCB7 led to replication-induced DNA damage in pro-B cells, independent of VDJ recombination, and these cells had evidence of slowed DNA replication"

"Iron accumulation in ABCB7-deficient pro-B cells"

"we report the crystal structures of free and glutathione-bound Atm1 in inward-facing, open conformations at 3.06- and 3.38-angstrom resolution, respectively"

"The glutathione binding site includes a residue mutated in XLSA/A and is located close to the inner membrane surface in a large cavity"

"Here, we report a series of cryo-electron microscopy structures of a eukaryotic homolog of human ABCB7, CtAtm1, determined at average resolutions ranging from 2.8 to 3.2 Å, complemented by functional characterization and molecular docking in silico"

"We propose that CtAtm1 accepts delivery from glutathione-complexed iron-sulfur clusters"

"Glutathione-complexed [2Fe-2S] cluster is shown to significantly stimulate the ATPase activity of an ABCB7-type transporter in both solution and proteoliposome-bound forms"

"Glutathione-complexed [2Fe-2S] cluster is shown to significantly stimulate the ATPase activity of an ABCB7-type transporter in both solution and proteoliposome-bound forms (KD ∼ 68 μM)"

"The glutathione-coordinated [2Fe-2S] cluster is demonstrated to be a viable and likely substrate for physiological iron-sulfur cluster transport by Atm1p, a mitochondrial ABC export protein"

"The ATP-binding cassette (ABC) transporter Atm1p of the mitochondrial inner membrane performs an essential function only in the generation of cytosolic Fe/S proteins by mediating export of Fe/S cluster precursors synthesized by Nfs1p and other mitochondrial proteins"