Missense mutation in RPS7 causes Diamond-Blackfan anemia via alteration of erythrocyte metabolism, protein translation and induction of ribosomal stress

Kubíčková, Agáta; Macečková, Zuzana; Vojta, Petr; Ondra, Martin; Volejnikova, Jana; Kořalková, Pavla; Jungová, Alexandra; Jahoda, Ondrej; Mojzíková, Renata; Hadacová, I; Čermák, Jaroslav; Horváthová, Monika; Pospı́šilová, Dagmar; Hajdúch, Marián

doi:10.1016/j.bcmd.2022.102690

Cited by 2 publications

(2 citation statements)

References 42 publications

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“…In addition to involvement in cancer, c-Myc also plays a pivotal role in stem cell regulation [16]. More specifically, c-Myc is instrumental in maintaining the pluripotency of embryonic stem cells, which ensures that these cells can differentiate into various cell types; this includes erythroid precursors, which demonstrate a decreased potential for differentiation in certain inherited diseases, such as Diamond-Blackfan anaemia [17,18]. Additionally, c-Myc is crucial in the reprogramming of somatic cells into induced pluripotent stem cells (iPSCs), a role which is highly relevant for regenerative medicine and tissue engineering [19].…”

Section: Introductionmentioning

confidence: 99%

Isoform-Directed Control of c-Myc Functions: Understanding the Balance from Proliferation to Growth Arrest

Kubickova,

De Sanctis,

Hajduch

2023

IJMS

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The transcription factor c-Myc, a key regulator of cellular processes, has long been associated with roles in cell proliferation and apoptosis. This review analyses the multiple functions of c-Myc by examining the different c-Myc isoforms in detail. The impact of different c-Myc isoforms, in particular p64 and p67, on fundamental biological processes remains controversial. It is necessary to investigate the different isoforms in the context of proto-oncogenesis. The current knowledge base suggests that neoplastic lesions may possess the means for self-destruction via increased c-Myc activity. This review presents the most relevant information on the c-Myc locus and focuses on a number of isoforms, including p64 and p67. This compilation provides a basis for the development of therapeutic approaches that target the potent growth arresting and pro-apoptotic functions of c-Myc. This information can then be used to develop targeted interventions against specific isoforms with the aim of shifting the oncogenic effects of c-Myc from pro-proliferative to pro-apoptotic. The research summarised in this review can deepen our understanding of how c-Myc activity contributes to different cellular responses, which will be crucial in developing effective therapeutic strategies; for example, isoform-specific approaches may allow for precise modulation of c-Myc function.

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Section: Introductionmentioning

confidence: 99%

Isoform-Directed Control of c-Myc Functions: Understanding the Balance from Proliferation to Growth Arrest

Kubickova,

De Sanctis,

Hajduch

2023

IJMS

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“…[22][23][24] To date, there is no obvious link to specific genetic mutations, gender, and treatment for the patients who attain remission or those who remain symptomatic with asymptomatic family members. 25,26 A major unresolved question in DBA remains how a ubiquitous RP deficiency is responsible for the erythroid-specific defect in hematopoiesis and why there is different penetrance among individuals or family members who carry the identical genetic mutation.…”

Section: Introductionmentioning

confidence: 99%

Animal models of Diamond-Blackfan anemia: updates and challenges

et al. 2022

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Diamond-Blackfan anemia (DBA) is a ribosomopathy that is characterized by macrocytic anemia, congenital malformations, and early onset during childhood. Genetic studies have demonstrated that most patients carry mutations in one of the 20 related genes, most of which encode ribosomal proteins (RP). Treatment of DBA includes corticosteroid therapy, chronic red blood cell transfusion, and other forms of immunosuppression. Currently, hematopoietic stem cell transplantation is the only cure for DBA. Interestingly, spontaneous remissions occur in 10-20% of transfusion-dependent DBA patients. However, there is no consistent association between specific mutations and clinical manifestations. In the past decades, researchers have made significant progress in understanding the pathogenesis of DBA, but it remains unclear how the ubiquitous RP haploinsufficiency causes the erythroid-specific defect in hematopoiesis in DBA patients, and why there is a difference in penetrance and spontaneous remission among individuals who carry identical mutations. In this paper, we provide a comprehensive review of the development of DBA animal models and discuss the future research directions for these important experimental systems.

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Missense mutation in RPS7 causes Diamond-Blackfan anemia via alteration of erythrocyte metabolism, protein translation and induction of ribosomal stress

Cited by 2 publications

References 42 publications

Isoform-Directed Control of c-Myc Functions: Understanding the Balance from Proliferation to Growth Arrest

Isoform-Directed Control of c-Myc Functions: Understanding the Balance from Proliferation to Growth Arrest

Animal models of Diamond-Blackfan anemia: updates and challenges

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