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Page 1
Expression, purification and microscopic characterization of human ATP-binding cassette sub-family B member 7 protein.
Nie Z, Yan Q, Shen Y, Yang X. Nie Z, et al. Protein Expr Purif. 2021 Jul;183:105860. doi: 10.1016/j.pep.2021.105860. Epub 2021 Mar 6. Protein Expr Purif. 2021. PMID: 33689857
ABCB7 also plays a central role in the maturation of cytosolic iron-sulfur (Fe/S) cluster-containing proteins, and mutations can cause a series of mitochondrial defects. X-linked sideroblastic anemia and ataxia (XLSA-A) is a rare cause of early onset ataxia, which may be o …
ABCB7 also plays a central role in the maturation of cytosolic iron-sulfur (Fe/S) cluster-containing proteins, and mutations can caus …
Human iron-sulfur cluster assembly, cellular iron homeostasis, and disease.
Ye H, Rouault TA. Ye H, et al. Biochemistry. 2010 Jun 22;49(24):4945-56. doi: 10.1021/bi1004798. Biochemistry. 2010. PMID: 20481466 Free PMC article. Review.
In this work, we review human Fe-S cluster biogenesis and human diseases that are caused by defective Fe-S cluster biogenesis. Fe-S cluster biogenesis takes place essentially in every tissue of humans, and products of human disease genes, including frataxin, GLRX5, ISCU, a …
In this work, we review human Fe-S cluster biogenesis and human diseases that are caused by defective Fe-S cluster biogenesis. Fe-S c …
Iron-sulfur cluster biogenesis and human disease.
Rouault TA, Tong WH. Rouault TA, et al. Trends Genet. 2008 Aug;24(8):398-407. doi: 10.1016/j.tig.2008.05.008. Epub 2008 Jul 5. Trends Genet. 2008. PMID: 18606475 Free PMC article. Review.
Mutations within other mammalian Fe-S cluster assembly genes could be causative for human diseases that manifest distinctive combinations of tissue-specific impairments. Thus, defects in the iron-sulfur cluster biogenesis pathway could underlie many human diseases.. …
Mutations within other mammalian Fe-S cluster assembly genes could be causative for human diseases that manifest distinctive combinat …
Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry.
Protasova MS, Grigorenko AP, Tyazhelova TV, Andreeva TV, Reshetov DA, Gusev FE, Laptenko AE, Kuznetsova IL, Goltsov AY, Klyushnikov SA, Illarioshkin SN, Rogaev EI. Protasova MS, et al. Eur J Hum Genet. 2016 Apr;24(4):550-5. doi: 10.1038/ejhg.2015.139. Epub 2015 Aug 5. Eur J Hum Genet. 2016. PMID: 26242992 Free PMC article.
Using whole-genome sequencing on Illumina HiSeq 2000 platform, we found a missense mutation in the ABCB7 (ABC-binding cassette transporter B7) gene, encoding a mitochondrial transporter, involved in heme synthesis and previously associated with sideroblastic anemia and ata …
Using whole-genome sequencing on Illumina HiSeq 2000 platform, we found a missense mutation in the ABCB7 (ABC-binding cassette transp …
Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis.
Pondarre C, Campagna DR, Antiochos B, Sikorski L, Mulhern H, Fleming MD. Pondarre C, et al. Blood. 2007 Apr 15;109(8):3567-9. doi: 10.1182/blood-2006-04-015768. Epub 2006 Dec 27. Blood. 2007. PMID: 17192398 Free PMC article.
X-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 ess …
X-linked sideroblastic anemia with ataxia (XLSA/A) is a rare syndromic form of inherited sideroblastic anemia associated with spinocerebella …
The Clinical and Molecular Spectrum of GM1 Gangliosidosis.
Arash-Kaps L, Komlosi K, Seegräber M, Diederich S, Paschke E, Amraoui Y, Beblo S, Dieckmann A, Smitka M, Hennermann JB. Arash-Kaps L, et al. J Pediatr. 2019 Dec;215:152-157.e3. doi: 10.1016/j.jpeds.2019.08.016. J Pediatr. 2019. PMID: 31761138
Iron redistribution as a therapeutic strategy for treating diseases of localized iron accumulation.
Kakhlon O, Breuer W, Munnich A, Cabantchik ZI. Kakhlon O, et al. Can J Physiol Pharmacol. 2010 Mar;88(3):187-96. doi: 10.1139/Y09-128. Can J Physiol Pharmacol. 2010. PMID: 20393584 Review.
Iron concentrations can rise to toxic levels in mitochondria of excitable cells, often leaving the cytosol iron-depleted, in some forms of neurodegeneration with brain accumulation (NBIA) or following mutations in genes associated with mitochondrial functions, such as A …
Iron concentrations can rise to toxic levels in mitochondria of excitable cells, often leaving the cytosol iron-depleted, in some forms of n …
Transcriptional profiling of genes induced in the livers of patients treated with carbamazepine.
Oscarson M, Zanger UM, Rifki OF, Klein K, Eichelbaum M, Meyer UA. Oscarson M, et al. Clin Pharmacol Ther. 2006 Nov;80(5):440-456. doi: 10.1016/j.clpt.2006.08.013. Clin Pharmacol Ther. 2006. PMID: 17112801
Moreover, we identified a number of additional genes not previously known to be induced by CBZ, including CYP39A1, sulfotransferase 1A1, glutathione S-transferase Z1, and the drug transporters SLCO1A2, ABCG2, and ABCB7, as well as the glucocorticoid and aldosterone recepto …
Moreover, we identified a number of additional genes not previously known to be induced by CBZ, including CYP39A1, sulfotransferase 1A1, glu …
12 results