Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy

Diamond Blackfan anaemia (DBA) is a congenital bone marrow failure syndrome characterised by selective red cell hypoplasia. DBA is most often due to heterozygous mutations in ribosomal protein (RP) genes that lead to defects in ribosome biogenesis and function and result in ribosomal stress and p53...

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Publicat a:Sci Rep
Autors principals: Aspesi, Anna, Monteleone, Valentina, Betti, Marta, Actis, Chiara, Morleo, Giulia, Sculco, Marika, Guarrera, Simonetta, Wlodarski, Marcin W., Ramenghi, Ugo, Santoro, Claudio, Ellis, Steven R., Loreni, Fabrizio, Follenzi, Antonia, Dianzani, Irma
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2017
Matèries:
Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5607337/
https://ncbi.nlm.nih.gov/pubmed/28931864
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-12307-5
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