Defective Slc7a7 transport reduces erythropoietin compromising erythropoiesis
The hematopoietic defects in the Lysinuric protein intolerance mouse model are not caused by intrinsic Slc7a7 loss in hematopoietic cells but rather by impaired erythropoietin production in the kidney. This finding opens potential avenues for therapeutic strategies targeting erythropoietin production to address hematological abnormalities in humans with lysinuric protein intolerance.
Authors
- Günter Weiß (ORCID: https://orcid.org/0000-0003-0709-2158)
- Gonzalo Hernández (ORCID: https://orcid.org/0000-0002-3048-9607)
- David Sebastián (ORCID: https://orcid.org/0000-0002-7260-3869)
- Judith Giroud‐Gerbetant (ORCID: https://orcid.org/0000-0001-6847-5721)
- Fernando Sotillo (ORCID: https://orcid.org/0000-0003-0974-3540)
- Manuel Palacı́n (ORCID: https://orcid.org/0000-0002-8670-293X)
- Neus Prats (ORCID: https://orcid.org/0000-0001-5653-7390)
- Irene Ruano (ORCID: https://orcid.org/0000-0001-9428-2368)
- Joana Fort (ORCID: https://orcid.org/0000-0003-0399-2116)
- Mayka Sánchez (ORCID: https://orcid.org/0000-0002-6499-5989)
- António Zorzano (ORCID: https://orcid.org/0000-0002-1638-0306)
- Susanna Bodoy (ORCID: https://orcid.org/0000-0001-9261-4373)
Institutions
- Universitat de Vic - Universitat Central de Catalunya (ES)
- Innsbruck Medical University (AT)
- Universität Innsbruck (AT)
- Instituto de Salud Carlos III (ES)
- Universitat Internacional de Catalunya (ES)
- Centro de Investigación Biomédica en Red Diabetes y Enfermedades Metabólicas Asociadas (ES)
- Centre for Biomedical Network Research on Rare Diseases (ES)
- Centro de Investigación Biomédica en Red (ES)
- Institute for Research in Biomedicine (ES)
- Instituto de Investigación de Enfermedades Raras (ES)
- Institut de Biomedicina de la Universitat de Barcelona
- Universitat de Barcelona (ES)
Publication Details
- Journal
- Molecular Medicine
- Published
- 2025-01-29
- DOI
- https://doi.org/10.1186/s10020-025-01100-0
- Citations
- 3
- Primary Topic
- Erythrocyte Function and Pathophysiology
- Type
- article
- Field-Weighted Citation Impact
- 3.49
Funders
- Generalitat de Catalunya
- Departament d'Innovació, Universitats i Empresa, Generalitat de Catalunya
- EMBO
- Ministerio de Ciencia e Innovación
- Ministerio de Ciencia y Tecnología