| http://purl.uniprot.org/citations/24854990 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24854990 | http://www.w3.org/2000/01/rdf-schema#comment | "Perturbation in iron homeostasis is a hallmark of some hematologic diseases. Abnormal sideroblasts with accumulation of iron in the mitochondria are named ring sideroblasts (RS). RS is a cardinal feature of refractory anemia with RS (RARS) and RARS with marked thrombocytosis (RARS/-T). Mutations in SF3B1, a member of the RNA splicing machinery are frequent in RARS/-T and defects of this gene were linked to RS formation. Here we showcase the differences in iron architecture of SF3B1-mutant and wild-type (WT) RARS/-T and provide new mechanistic insights by which SF3B1 mutations lead to differences in iron. We found higher iron levels in SF3B1 mutant vs WT RARS/-T by transmission electron microscopy/spectroscopy/flow cytometry. SF3B1 mutations led to increased iron without changing the valence as shown by the presence of Fe(2+) in mutant and WT. Reactive oxygen species and DNA damage were not increased in SF3B1-mutant patients. RNA-sequencing and Reverse transcriptase PCR showed higher expression of a specific isoform of SLC25A37 in SF3B1-mutant patients, a crucial importer of Fe(2+) into the mitochondria. Our studies suggest that SF3B1 mutations contribute to cellular iron overload in RARS/-T by deregulating SLC25A37."xsd:string |
| http://purl.uniprot.org/citations/24854990 | http://purl.org/dc/terms/identifier | "doi:10.1038/leu.2014.170"xsd:string |
| http://purl.uniprot.org/citations/24854990 | http://purl.uniprot.org/core/author | "Rogers H.J."xsd:string |
| http://purl.uniprot.org/citations/24854990 | http://purl.uniprot.org/core/author | "Hitomi M."xsd:string |
| http://purl.uniprot.org/citations/24854990 | http://purl.uniprot.org/core/author | "Phillips J."xsd:string |
| http://purl.uniprot.org/citations/24854990 | http://purl.uniprot.org/core/author | "Barnard J."xsd:string |
| http://purl.uniprot.org/citations/24854990 | http://purl.uniprot.org/core/author | "Saunthararajah Y."xsd:string |
| http://purl.uniprot.org/citations/24854990 | http://purl.uniprot.org/core/author | "Sekeres M.A."xsd:string |
| http://purl.uniprot.org/citations/24854990 | http://purl.uniprot.org/core/author | "Tiu R.V."xsd:string |
| http://purl.uniprot.org/citations/24854990 | http://purl.uniprot.org/core/author | "Visconte V."xsd:string |
| http://purl.uniprot.org/citations/24854990 | http://purl.uniprot.org/core/author | "Cowen J."xsd:string |
| http://purl.uniprot.org/citations/24854990 | http://purl.uniprot.org/core/author | "Mahfouz R."xsd:string |
| http://purl.uniprot.org/citations/24854990 | http://purl.uniprot.org/core/author | "Avishai N."xsd:string |
| http://purl.uniprot.org/citations/24854990 | http://purl.uniprot.org/core/author | "Hasrouni E."xsd:string |
| http://purl.uniprot.org/citations/24854990 | http://purl.uniprot.org/core/author | "Tabarroki A."xsd:string |
| http://purl.uniprot.org/citations/24854990 | http://purl.uniprot.org/core/author | "Heuer A.H."xsd:string |
| http://purl.uniprot.org/citations/24854990 | http://purl.uniprot.org/core/author | "Sharghi-Moshtaghin R."xsd:string |
| http://purl.uniprot.org/citations/24854990 | http://purl.uniprot.org/core/date | "2015"xsd:gYear |
| http://purl.uniprot.org/citations/24854990 | http://purl.uniprot.org/core/name | "Leukemia"xsd:string |
| http://purl.uniprot.org/citations/24854990 | http://purl.uniprot.org/core/pages | "188-195"xsd:string |
| http://purl.uniprot.org/citations/24854990 | http://purl.uniprot.org/core/title | "Distinct iron architecture in SF3B1-mutant myelodysplastic syndrome patients is linked to an SLC25A37 splice variant with a retained intron."xsd:string |
| http://purl.uniprot.org/citations/24854990 | http://purl.uniprot.org/core/volume | "29"xsd:string |
| http://purl.uniprot.org/citations/24854990 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/24854990 |
| http://purl.uniprot.org/citations/24854990 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/24854990 |