ArticleScientific reports2017
Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 26 citations in OpenAlex.
- Beyond Hematologic Malignancies: Colorectal Cancer as a Solid Tumor Manifestation of Inherited Bone Marrow Failure Syndromes.International journal of molecular sciences · 2025Review
- A de novo nonsense variant in RPS10 causes Diamond-Blackfan anaemia in an Indian patient: clinical and functional evidence.Molecular genetics and genomics : MGG · 2025Article
- SURF2 is a MDM2 antagonist in triggering the nucleolar stress response.Nature communications · 2024Article
- Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement.The Lancet. Haematology · 2024Article
- Hematopoietic cell transplantation and gene therapy for Diamond-Blackfan anemia: state of the art and science.Frontiers in oncology · 2023Review
- Pediatric Germline Predisposition to Myeloid Neoplasms.Current hematologic malignancy reports · 2022Review
- Downregulation of SATB1 by miRNAs reduces megakaryocyte/erythroid progenitor expansion in preclinical models of Diamond-Blackfan anemia.Experimental hematology · 2022Article
- Article
- Deficiency of ribosomal protein S26, which is mutated in a subset of patients with Diamond Blackfan anemia, impairs erythroid differentiation.Frontiers in genetics · 2022Article
- Ribosomal proteins and human diseases: molecular mechanisms and targeted therapy.Signal transduction and targeted therapy · 2021Review
- The Glucocorticoid Receptor Polymorphism Landscape in Patients With Diamond Blackfan Anemia Reveals an Association Between Two Clinically Relevant Single Nucleotide Polymorphisms and Time to Diagnosis.Frontiers in physiology · 2021Article
- A Review of Diamond-Blackfan Anemia: Current Evidence on Involved Genes and Treatment Modalities.Cureus · 2020Review
- The role of p53 in developmental syndromes.Journal of molecular cell biology · 2019Review
- A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia.Human mutation · 2018Article
- Identification of differentially expressed genes and pathways in mice exposed to mixed field neutron/photon radiation.BMC genomics · 2018Article
- Emerging Therapeutic Approaches for Diamond Blackfan Anemia.Current gene therapy · 2018Review
Corrections and comments
- Erratum issued
Authors and funding
14 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 erythroid cells are hampered by their paucity. Here we report that RP-mutated lymphoblastoid cell lines (LCLs) established from DBA patients show defective rRNA processing and ribosomal stress features such as reduced proliferation, decreased protein synthesis, and activation of p53 and its target p21. These phenotypic alterations were corrected by gene complementation. Our data indicate that DBA LCLs could be a useful model for molecular and pharmacological investigations.
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