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Ribosomal Protein Mutations Result in Constitutive p53 Protein Degradation through Impairment of the AKT Pathway

Mutations in ribosomal protein (RP) genes can result in the loss of erythrocyte progenitor cells and cause severe anemia. This is seen in patients with Diamond-Blackfan anemia (DBA), a pure red cell aplasia and bone marrow failure syndrome that is almost exclusively linked to RP gene haploinsufficie...

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Detalles Bibliográficos
Autores principales: Antunes, Ana T., Goos, Yvonne J., Pereboom, Tamara C., Hermkens, Dorien, Wlodarski, Marcin W., Da Costa, Lydie, MacInnes, Alyson W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4488577/
https://www.ncbi.nlm.nih.gov/pubmed/26132763
http://dx.doi.org/10.1371/journal.pgen.1005326