Article
Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy.
Scientific reports - 20 Sept 2017
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
Abstract excerpt
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 activation. The molecular mechanisms underlying this pathology are still poorly understood and studies on patient...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.