Cited by 85Acute Myeloid Leukemia ResearchIron Metabolism and DisordersHemoglobinopathies and Related Disorders

A variant erythroferrone disrupts iron homeostasis in SF3B1 -mutated myelodysplastic syndrome

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Bondu, Sabrina, Alary, Anne-Sophie, Lefèvre, Carine, Houy, Alexandre, Jung, Grace, Lefebvre, Thibaud, Rombaut, David, Boussaid, Ismael +31 more·2019·Science Translational Medicine

Abstract

A variant erythroferrone contributes to hepcidin modulation and systemic iron accumulation in patients with SF3B1 -mutated myelodysplastic syndrome.

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Crossref · 10.1126/scitranslmed.aav5467

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  • Among other abnormally spliced products, an elongated variant of ERFE is more efficient than the wildtype hormone in hepcidin repression.

    “Among other abnormally spliced products, an elongated variant of ERFE is more efficient than the wildtype hormone in hepcidin repression.109”

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Authors
Bondu, S., Alary, A.-S., Lefèvre, C., Houy, A., Jung, G., Lefebvre, T., Rombaut, D., Boussaid, I., Bousta, A., Guillonneau, F., Perrier, P., Alsafadi, S., Wassef, M., Margueron, R., Rousseau, A., Droin, N., Cagnard, N., Kaltenbach, S., Winter, S., Kubasch, A.-S., Bouscary, D., Santini, V., Toma, A., Hunault, M., Stamatoullas, A., Gyan, E., Cluzeau, T., Platzbecker, U., Adès, L., Puy, H., Stern, M.-H., Karim, Z., Mayeux, P., Nemeth, E., Park, S., Ganz, T., Kautz, L., Kosmider, O., & Fontenay, M.
Affiliations
  • Centre National de la Recherche Scientifique (FR)
  • Université Paris Sciences et Lettres (FR)
  • University of California, Los Angeles (US)
  • Université de Paris, Paris 75006, France.
  • Université Toulouse III - Paul Sabatier (FR)
  • Inserm (FR)
  • Institut Gustave Roussy (FR)
  • Université Paris Cité (FR)
  • Hôpital Necker-Enfants Malades (FR)
  • Technische Universität Dresden (DE)
  • University Hospital Leipzig (DE)
  • Azienda Ospedaliero-Universitaria Careggi (IT)
  • Assistance Publique – Hôpitaux de Paris (FR)
  • Centre Hospitalier Universitaire d'Angers (FR)
  • Centre Henri Becquerel (FR)
  • Université de Tours (FR)
  • Centre Hospitalier Universitaire de Grenoble (FR)
Corresponding author
  • Bondu, Sabrina
  • Alary, Anne-Sophie
  • Kosmider, Olivier
  • Fontenay, Michaëla
Venue
Science Translational Medicine
Published
2019-07-10
Volume
11
Issue
500
Pages
eaav5467
ISSN
  • 1946-6234 (ISSN-L)
  • 1946-6242
OpenAlex
W2957476816
Cited by
85
References
61
Citations by year
2026: 5 · 2025: 13 · 2024: 13 · 2023: 12 · 2022: 12 · 2021: 15 · 2020: 13 · 2019: 2
FWCI
7.77
Type
journal article
Language
en
Open access
Locations
  • Science Translational Medicine (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
  • Florence Research (University of Florence) (submittedVersion, other-oa)
  • HAL (submittedVersion)
  • eScholarship (California Digital Library) (submittedVersion)
Funders
  • NIH Clinical Center (R01 DK 065029)
  • H2020 European Research Council (Grant agreement N0 715491)
  • Agence Nationale de la Recherche (ANR-16-ACHN-0002-01)
  • Institut National Du Cancer (PHRC MDS-04; INCa-DGOS_5480, INCa PLBio 2015 (INCa_9290), SIRIC CARPEM grant 2016)
  • UCLA center for accelerated innovation (NIH grant U54HL119893)
  • Canceropole Ile de France (Equipements lourds)
Topics
  • Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
  • Health Sciences › Medicine › Hematology › Iron Metabolism and Disorders
  • Health Sciences › Medicine › Genetics › Hemoglobinopathies and Related Disorders
Keywords
erythroferrone, SF3B1 mutation, myelodysplastic syndrome, iron homeostasis, erythropoiesis, anemia, biomarkers, erythroblasts
MeSH terms
RNA Splicing Factors, Lenalidomide, Amino Acid Sequence, Animals, Blood Transfusion, Cell Line, Cell Survival, Clone Cells, Homeostasis, Humans, Iron, Mutation, Myelodysplastic Syndromes, Phosphoproteins, RNA, Messenger, Protein Biosynthesis, Up-Regulation, Alternative Splicing, Cell Lineage, RNA Splice Sites, Peptide Hormones, Erythroid Cells, Mice, Hepcidins

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