Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome
This work was supported by the grant PS09/00341 from “Instituto de Salud Carlos III”, Spanish Health Program, grant SAF2012-40106 from Ministry of Economy and Competitiveness (MINECO) and grant CIVP16A1857 “Ayudas a proyectos de Investigación en Ciéncias de la Vida Fundación Ramón Areces” to M.S. M....
| Autores: | , , , , , , , |
|---|---|
| Tipo de recurso: | artículo |
| Fecha de publicación: | 2013 |
| País: | España |
| Institución: | Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya) |
| Repositorio: | Recercat. Dipósit de la Recerca de Catalunya |
| OAI Identifier: | oai:recercat.cat:20.500.12328/3079 |
| Acceso en línea: | http://hdl.handle.net/20.500.12328/3079 https://dx.doi.org/10.1186/1750-1172-8-30 |
| Access Level: | acceso abierto |
| Palabra clave: | Mutacions Ferro ferritina-L Síndrome de cataracta d'hiperferritinèmia hereditària Ferritina sèrica Metabolisme del ferro Sistema regulador IRP/IRE Cataractes bilaterals Hierro ferritina-L Síndrome de catarata de hiperferritinemia hereditaria Ferritina sérica Metabolismo del hierro Cataratas bilaterales Ferro ferritin-L Hereditary hyperferritinemia cataract syndrome Serum ferritin Iron metabolism IRP / IRE regulatory system Bilateral cataracts 57 |
| Sumario: | This work was supported by the grant PS09/00341 from “Instituto de Salud Carlos III”, Spanish Health Program, grant SAF2012-40106 from Ministry of Economy and Competitiveness (MINECO) and grant CIVP16A1857 “Ayudas a proyectos de Investigación en Ciéncias de la Vida Fundación Ramón Areces” to M.S. M.S. held a research contract under the Ramón y Cajal program from the Spanish Ministry of Science and Innovation (RYC-2008-02352). J.A. held a technician support contract under the “Contratos de Técnicos de apoyo a la investigación en el SNS” program from the “Instituto de Salud Carlos III”, Spanish Health Program (CA10/01114). M.U.M. acknowledges funding from the E-RARE/BMBF project 01GM1005 and the Dietmar Hopp Stiftung as well as support from the Center For Rare Diseases, Medical Center University of Heidelberg. |
|---|