钻石-黑范贫血综合征2.0：重新审视Rpl11小鼠模型 - Suppr

DBA syndrome 2.0: Rpl11 mouse model revisited.

作者信息

Bhoopalan Senthil Velan, Wlodarski Marcin W

机构信息

Department of Bone Marrow Transplantation and Cellular Therapy, St. Jude Children's Research Hospital, Memphis, TN.

Department of Hematology, St. Jude Children's Research Hospital, Memphis, TN.

出版信息

Blood Adv. 2025 Jun 10;9(11):2706-2708. doi: 10.1182/bloodadvances.2025016115.

DOI:10.1182/bloodadvances.2025016115

PMID:40440009

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12168212/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/af22/12168212/dea6f55419ab/BLOODA_ADV-2025-016115-C-gr1.jpg

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A novel mouse model to study the effects of new therapies for Diamond-Blackfan anemia.

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Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement.

Lancet Haematol. 2024 May;11(5):e368-e382. doi: 10.1016/S2352-3026(24)00063-2.

Ribosomal protein RPL11 haploinsufficiency causes anemia in mice via activation of the RP-MDM2-p53 pathway.

J Biol Chem. 2023 Jan;299(1):102739. doi: 10.1016/j.jbc.2022.102739. Epub 2022 Nov 23.

An RPS19-edited model for Diamond-Blackfan anemia reveals TP53-dependent impairment of hematopoietic stem cell activity.

JCI Insight. 2023 Jan 10;8(1):e161810. doi: 10.1172/jci.insight.161810.

Animal models of Diamond-Blackfan anemia: updates and challenges.

Haematologica. 2023 May 1;108(5):1222-1231. doi: 10.3324/haematol.2022.282042.

Single-cell profiling of human bone marrow progenitors reveals mechanisms of failing erythropoiesis in Diamond-Blackfan anemia.

Sci Transl Med. 2021 Sep 8;13(610):eabf0113. doi: 10.1126/scitranslmed.abf0113.

Single-cell analysis of erythropoiesis in Rpl11 haploinsufficient mice reveals insight into the pathogenesis of Diamond-Blackfan anemia.

Exp Hematol. 2021 May;97:66-78.e6. doi: 10.1016/j.exphem.2021.02.010. Epub 2021 Feb 22.

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Cell Rep. 2015 Oct 27;13(4):712-722. doi: 10.1016/j.celrep.2015.09.038. Epub 2015 Oct 17.

Disruption of the 5S RNP-Mdm2 interaction significantly improves the erythroid defect in a mouse model for Diamond-Blackfan anemia.

Leukemia. 2015 Nov;29(11):2221-9. doi: 10.1038/leu.2015.128. Epub 2015 May 19.

Mutual protection of ribosomal proteins L5 and L11 from degradation is essential for p53 activation upon ribosomal biogenesis stress.

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DBA syndrome 2.0: Rpl11 mouse model revisited.

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