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...

詳細記述

保存先:
書誌詳細
出版年:Sci Rep
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group UK 2017
主題:
Article
オンライン･アクセス: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
タグ: タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!

類似資料