Potentials of ribosomopathy gene as pharmaceutical targets for cancer treatment

Article Biochemistry & Molecular Biology

M6A RNA methylation-mediated RMRP stability renders proliferation and progression of non-small cell lung cancer through regulating TGFBR1/SMAD2/SMAD3 pathway

Hang Yin et al.

Summary: This study reveals that m6A RNA methylation-mediated RMRP stability promotes proliferation and progression of non-small cell lung cancer through regulating the TGFBR1/SMAD2/SMAD3 pathway.

CELL DEATH AND DIFFERENTIATION (2023)

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Review Cell Biology

Nucleolar stress: From development to cancer

M. Carmen Lafita-Navarro et al.

Summary: The nucleolus is a large nuclear organelle responsible for ribosome biogenesis. Errors in ribosomal biogenesis can cause nucleolar stress, leading to changes in nucleolar function and morphology. This review discusses the association of nucleolar stress with degenerative diseases and developmental defects, as well as the importance of de novo nucleotide biosynthesis for enhanced nucleolar activity in cancer cells and the potential targeting of nucleotide biosynthesis as a strategy to activate nucleolar stress and specifically target cancer cells.

SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY (2023)

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Article Oncology

RPS14 promotes the development and progression of glioma via p53 signaling pathway

Shangwei Hu et al.

Summary: RPS14 is found to be overexpressed in glioma, and its depletion can significantly suppress glioma cell proliferation and migration while promoting apoptosis. The effects of RPS14 knockdown on glioma may be closely associated with the p53 signaling pathway, and attenuation of these effects can be achieved by inhibiting the p53 pathway. Therefore, RPS14 may serve as a potential therapeutic target for gliomas.

EXPERIMENTAL CELL RESEARCH (2023)

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Article Biochemistry & Molecular Biology

RPS24 Is Associated with a Poor Prognosis and Immune Infiltration in Hepatocellular Carcinoma

Haiyuan Li et al.

Summary: This study explored the expression and function of 40S ribosomal protein S24 (RPS24) in hepatocellular carcinoma (HCC). Results showed that RPS24 was elevated in HCC samples and related to poor prognosis. Furthermore, RPS24 overexpression or promoter methylation correlated with unfavorable prognosis in HCC patients. High expression of RPS24 was associated with DNA replication, cell cycle, immune infiltration, and immunotherapy response. Experimental validation demonstrated that silencing of RPS24 suppressed HCC cell growth and tumor proliferation. Therefore, RPS24 may serve as a potential adverse biomarker for HCC prognosis, acting through cell proliferation facilitation and the formation of an immunosuppressive microenvironment, and targeting RPS24 could be a promising therapeutic option for HCC management.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2023)

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Article Oncology

Biochemical and clinical effects of RPS20 expression in renal clear cell carcinoma

Cheng Shen et al.

Summary: The overexpression of RPS20 in renal cell carcinoma (RCC) is associated with the malignant grade and prognosis of the tumor. RPS20 promotes RCC cell proliferation by activating the AKT-mTOR and ERK-MAPK signaling pathways, suggesting it may serve as a therapeutic and prognostic target for RCC.

ONCOLOGY REPORTS (2023)

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Review Hematology

Predisposition to myeloid malignancies in Shwachman-Diamond syndrome: biological insights and clinical advances

Christopher R. Reilly et al.

Summary: Shwachman-Diamond syndrome (SDS) is an inherited multisystem ribosomopathy characterized by exocrine pancreatic deficiency, bone marrow failure, and predisposition to myeloid malignancies. Patients with SDS who undergo routine bone marrow surveillance and receive hematopoietic stem cell transplant (HSCT) before developing overt malignancy have improved outcomes. Recent studies have found distinct patterns of somatic blood mutations in patients with SDS, suggesting the potential for molecular surveillance to enhance the detection of incipient myeloid malignancies when HSCT may be most effective.

BLOOD (2023)

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Article Biochemistry & Molecular Biology

SUMO specific peptidase 3 halts pancreatic ductal adenocarcinoma metastasis via deSUMOylating DKC1

Xiao Wu et al.

Summary: This study identified SENP3 as a potential suppressor of PDAC progression through its interaction with DKC1 and catalyzing the deSUMOylation of DKC1. Overexpression of DKC1 counteracted the anti-metastasis effect of SENP3, and elevated levels of DKC1 were associated with a poor prognosis in PDAC patients.

CELL DEATH AND DIFFERENTIATION (2023)

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Review Biochemistry & Molecular Biology

Ribosome biogenesis factors-from names to functions

Kerstin Doerner et al.

Summary: The assembly of ribosomal subunits is a highly coordinated process involving many accessory factors. Most of these factors have been identified through genetic screening and proteomic approaches in yeast, and their requirement is conserved in evolution. However, the function and mechanism of action of many factors remained unknown until recently, when structural, biochemical, and cellular studies provided a detailed understanding of their role in ribosome maturation.

EMBO JOURNAL (2023)

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Article Hematology

Shwachman-Diamond syndromes: clinical, genetic, and biochemical insights from the rare variants

Nozomu Kawashima et al.

HAEMATOLOGICA (2023)

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Article Cell Biology

The ufmylation modification of ribosomal protein L10 in the development of pancreatic adenocarcinoma

Kun Wang et al.

Summary: This study uncovers the crucial role of RPL10 ufmylation in promoting the development of pancreatic adenocarcinoma by enhancing cell proliferation and stemness.

CELL DEATH & DISEASE (2023)

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Article Biochemistry & Molecular Biology

The induction of p53 correlates with defects in the production, but not the levels, of the small ribosomal subunit and stalled large ribosomal subunit biogenesis

Matthew John Eastham et al.

Summary: Ribosome biogenesis is an energy-consuming process and defects in the production of ribosomal subunits can lead to genetic diseases and cancers. This study reveals that defects in the production of the SSU induce p53 activation through the accumulation of the 5S RNP, and uncovers a new connection between the SSU and LSU production pathways.

NUCLEIC ACIDS RESEARCH (2023)

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Article Endocrinology & Metabolism

Dyskerin and telomerase RNA component are sex-differentially associated with outcomes and Sunitinib response in patients with clear cell renal cell carcinoma

Huiyang Yuan et al.

Summary: In clear cell renal cell carcinoma (ccRCC) patients, high expression of DKC1 is associated with shorter disease progression-free survival (PFS) in female but not male patients. In ccRCC patients treated with Sunitinib, female patients in the DKC1-high group have lower response rates and shorter PFS. DKC1 serves as an independent female-specific predictor for survival and Sunitinib efficacy.

BIOLOGY OF SEX DIFFERENCES (2023)

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Article Biochemistry & Molecular Biology

Telomerase RNA component lncRNA as potential diagnostic biomarker promotes CRC cellular migration and apoptosis evasion via modulation of ?-catenin protein level

Mohamed Bakr et al.

Summary: The aim of this study was to investigate the role of lncRNA TERC as a diagnostic serum biomarker in colorectal cancer (CRC) patients and its molecular mechanism in inducing tumor in CRC cell lines. The results showed that lncRNA TERC was overexpressed in the sera of CRC patients and had a high diagnostic accuracy. Silencing of lncRNA TERC inhibited cell migration and induced cell arrest and apoptosis. Furthermore, lncRNA TERC upregulated beta-catenin protein levels. Therefore, lncRNA TERC could be considered as an early stage CRC diagnostic biomarker and promotes CRC progression through the elevation of beta-catenin protein.

NON-CODING RNA RESEARCH (2023)

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Article Oncology

Ribosome biosynthesis and Hedgehog activity are cooperative actionable signaling mechanisms in breast cancer following radiotherapy

Brandon J. Metge et al.

Summary: Hyperactivated ribosome biosynthesis is necessary for cell growth and division, but it can be challenged by DNA-damaging treatments like radiotherapy. Surviving tumor cells from breast cancer patients show increased ribosome biosynthesis and Hedgehog (Hh) activity after radiation therapy. GLI1 is found to activate RNA Pol I in response to irradiation, and Treacle ribosome biogenesis factor 1 (TCOF1) facilitates the translocation of GLI1 in irradiated tumor cells. Inhibiting Hh activity and RNA Pol I activity can hinder the outgrowth of breast cancer cells in the lungs, offering a potential strategy to enhance the effectiveness of radiotherapy.

NPJ PRECISION ONCOLOGY (2023)

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Article Biochemistry & Molecular Biology

RPS15 interacted with IGF2BP1 to promote esophageal squamous cell carcinoma development via recognizing m6A modification

Yahui Zhao et al.

Summary: Increased expression of RPS15 is associated with malignant phenotype and poor prognosis in human esophageal squamous cell carcinoma (ESCC). RPS15 promotes ESCC cell metastasis and proliferation through the p38 MAPK pathway. Targeting RPS15 with folic acid shows therapeutic potential for ESCC treatment, especially when combined with cisplatin.

SIGNAL TRANSDUCTION AND TARGETED THERAPY (2023)

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Article Cell Biology

The oncogenic role of treacle ribosome biogenesis factor 1 (TCOF1) in human tumors: a pan-cancer analysis

Wei Gu et al.

Summary: Treacle ribosome biogenesis factor 1 (TCOF1) plays a crucial role in multiple processes, including ribosome biogenesis, DNA damage response, mitotic regulation, and telomere integrity. This study integrated data from TCGA and GEO to explore the expression, prognostic value, and mutational profiles of TCOF1 across different cancers, and found its correlation with immune cell infiltration.

AGING-US (2022)

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Article Oncology

TCOF1 upregulation in triple-negative breast cancer promotes stemness and tumour growth and correlates with poor prognosis

Jianyang Hu et al.

Summary: In TNBC, TCOF1 is frequently upregulated and its high expression is associated with poor prognosis. Depletion of TCOF1 significantly inhibits the growth and stemness of basal-like TNBC, but not of mesenchymal-like cells, highlighting molecular dependency differences among different TNBC subgroups. Furthermore, TCOF1 mediates TNBC stemness by regulating multiple stem cell molecules.

BRITISH JOURNAL OF CANCER (2022)

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Article Oncology

TCOF1 coordinates oncogenic activation and rRNA production and promotes tumorigenesis in HCC

Chaoshen Wu et al.

Summary: TCOF1, previously known to be involved in Treacher Collins-Franceschetti syndrome, is found to be aberrantly elevated in human hepatocellular carcinoma (HCC) and plays oncogenic roles by regulating KRAS-activated genes, EMT genes, and promoting rRNA production, while showing an inverse correlation with tumor infiltration of antitumor immune cells, suggesting its potential impact on antitumor immune responses in HCC.

CANCER SCIENCE (2022)

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Article Biochemistry & Molecular Biology

Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder

Ji Hoon Han et al.

Summary: The study identified LIPHAK as a previously unrecognized ribosomopathy, where variants in the LTV1 gene result in abnormal splicing and premature termination of the protein it encodes.

HUMAN MOLECULAR GENETICS (2022)

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Correction Oncology

Increased DKC1 expression in glioma and its significance in tumor cell proliferation, migration and invasion (vol 37, pg 1177, 2019)

Fa-an Miao et al.

INVESTIGATIONAL NEW DRUGS (2022)

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Article Biochemistry & Molecular Biology

RNA-binding protein RBM28 can translocate from the nucleolus to the nucleoplasm to inhibit the transcriptional activity of p53

Xin Lin et al.

Summary: RBM28 is an RNA-binding protein that regulates tumor progression and is associated with poor prognosis. It promotes the survival and growth of cancer cells by inhibiting the transcriptional activity of the tumor suppressor protein p53. Additionally, it translocates from the nucleolus to the nucleoplasm in response to chemotherapy drugs, likely through phosphorylation at Ser122.

JOURNAL OF BIOLOGICAL CHEMISTRY (2022)

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Article Oncology

Loss of RPS27a expression regulates the cell cycle, apoptosis, and proliferation via the RPL11-MDM2-p53 pathway in lung adenocarcinoma cells

Hongyan Li et al.

Summary: This study revealed that RPS27a interacts with RPL11, regulating p53 activation and playing crucial roles in LUAD progression. Knockdown of RPS27a enhances p53 activation, inhibits cell growth, and induces apoptosis.

JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH (2022)

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Article Multidisciplinary Sciences

A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesis

Nic Robertson et al.

Summary: Mutations in the non-coding RNA RMRP cause primary immunodeficiency and impair the processing of pre-ribosomal RNA, resulting in reduced ribosome abundance. This study establishes that this disorder, known as Cartilage Hair Hypoplasia, is a ribosomopathy. The mutations in RMRP also delay T cell activation and affect pre-rRNA processing.

NATURE COMMUNICATIONS (2022)

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Article Genetics & Heredity

Early Onset Colorectal Cancer: An Emerging Cancer Risk in Patients with Diamond Blackfan Anemia

Jeffrey M. Lipton et al.

Summary: Diamond Blackfan anemia (DBA), a rare bone marrow failure syndrome, is associated with an increased risk of developing cancers, particularly colorectal cancer and osteogenic sarcoma. The challenge lies in providing optimal therapy for these patients due to their bone marrow failure, which may result in poor outcomes. Therefore, implementing rational screening and surveillance strategies is crucial.

GENES (2022)

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Review Oncology

Ribosome Biogenesis: A Central Player in Cancer Metastasis and Therapeutic Resistance

Amr R. Elhamamsy et al.

Summary: Ribosomes are composed of rRNA and ribosomal proteins, and they play a crucial role in mRNA translation. Ribosome biogenesis is a highly regulated process that occurs in multiple steps and is controlled by various checkpoints and surveillance pathways. Cancer cells have a specialized class of ribosomes, called onco-ribosomes, which contribute to the oncogenic translation program and cellular functions. Mutations in ribosomal proteins and abnormalities in ribosome biogenesis are associated with an increased risk of developing cancer.

CANCER RESEARCH (2022)

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Article Oncology

RNA Helicase DHX37 Facilitates Liver Cancer Progression by Cooperating with PLRG1 to Drive Superenhancer-Mediated Transcription of Cyclin D1

Zhen Liu et al.

Summary: DHX37, a dysregulated RNA helicase in hepatocellular carcinoma (HCC), interacts with PLRG1 to promote cell proliferation and cyclin D1 expression. This cooperative mechanistic interaction contributes to liver cancer progression and improves our understanding of epigenetic and transcriptional dysregulations in HCC mediated by RNA helicases and superenhancers.

CANCER RESEARCH (2022)

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Article Genetics & Heredity

Downregulated long intergenic non-coding RNA 00,174 represses malignant biological behaviors of lung cancer cells by regulating microRNA-584-3p/ribosomal protein S24 axis

Shaobin Wang et al.

Summary: This study reveals the impact of LINC00174 on the malignant phenotype in lung cancer cells through modulating the miR-584-3p/RPS24 axis.

FUNCTIONAL & INTEGRATIVE GENOMICS (2022)

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Article Biochemistry & Molecular Biology

Expression of Cellular and Extracellular TERRA, TERC and TERT in Hepatocellular Carcinoma

Michele Manganelli et al.

Summary: This study assessed the expression of non-coding RNAs TERRA, TERC, and TERT in hepatocellular carcinoma (HCC) and found their dysregulation. The detection of TERRA and TERC in plasma showed potential diagnostic value for HCC.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2022)

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Review Oncology

Targeting Ribosome Biogenesis in Cancer: Lessons Learned and Way Forward

Asimina Zisi et al.

Summary: Cells, especially cancer cells, need to continuously produce ribosomes to sustain their proliferation. Targeting the machinery involved in ribosome biogenesis has shown potential for developing effective cancer therapies. This review provides information on molecules that target ribosome biogenesis and discusses potential avenues for future research.

CANCERS (2022)

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Article Biochemistry & Molecular Biology

Studies of mutations of assembly factor Hit1 in budding yeast suggest translation defects as the molecular basis for PEHO syndrome

R. Elizabeth Dreggors-Walker et al.

Summary: Regulation of protein synthesis is essential for gene expression control in cells. Defects in ribosome production, function, or regulation can lead to cellular damage and human diseases such as PEHO syndrome. This study reveals that mutations in the ZNHIT3 gene, which encodes a nuclear protein, cause a decrease in protein levels and defects in rRNA processing and translation in yeast, providing insights into the molecular basis of PEHO syndrome.

JOURNAL OF BIOLOGICAL CHEMISTRY (2022)

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Article Oncology

A Signaling Crosstalk Links SNAIL to the 37/67 kDa Laminin-1 Receptor Ribosomal Protein SA and Regulates the Acquisition of a Cancer Stem Cell Molecular Signature in U87 Glioblastoma Neurospheres

Loraine Gresseau et al.

Summary: Our study explored a new signaling axis involved in the regulation of in vitro neurosphere formation and investigated the impact of diet-derived epigallocatechin gallate (EGCG) on the acquisition of stemness traits in neurospheres. Our findings demonstrated that neurospheres expressed higher levels of cancer stem cell markers (NANOG, SOX2, PROM1) and epithelial-to-mesenchymal transition markers (Fibronectin, SNAI1, RPSA) compared to their parental adherent cells. Clinical grade IV glioblastoma tissues also showed increased expression of these markers compared to normal tissue. Treatment with EGCG reduced the size of neurospheres and inhibited the transcriptional regulation of these genes in a dose-dependent manner. Additionally, we identified apoptotic signaling events involving GSK3 alpha/beta, RSK, and CREB, which were repressed upon RPSA and SNAI1 gene silencing.

CANCERS (2022)

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Article Multidisciplinary Sciences

Dynamic regulation and requirement for ribosomal RNA transcription during mammalian development

Karla T. Falcon et al.

Summary: This study investigates the importance of ribosomal RNA (rRNA) transcription in craniofacial development and the implications of disruptions in this process. The researchers discovered that high expression of Pol I subunits in neuroepithelium and neural crest cells (NCCs) sustains elevated rRNA transcription, supporting the high levels of protein translation in these cells. However, disruptions in rRNA synthesis in NCCs can lead to p53 protein accumulation, NCC apoptosis, and craniofacial anomalies. Compound mutations in Pol I subunits further exacerbate these anomalies. Mechanistically, diminished rRNA synthesis causes an imbalance between rRNA and ribosomal proteins, affecting the binding of these proteins with Mdm2 and p53. This study highlights the critical role of rRNA transcription in craniofacial development and its specific sensitivities to disruptions in certain congenital craniofacial disorders.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2022)

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Article Cell Biology

Ribosomal protein RPL5 regulates colon cancer cell proliferation and migration through MAPK/ERK signaling pathway

Huahua Zhang et al.

Summary: The high expression of RPL5 in colon cancer and its promotion of cell proliferation and migration through activating the MAPK/ERK pathway were found in this study. This finding may provide a new therapeutic target for cancers with dominant MAPK/ERK signaling.

BMC MOLECULAR AND CELL BIOLOGY (2022)

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Article Oncology

Downregulation of ZNF280A inhibits proliferation and tumorigenicity of colorectal cancer cells by promoting the ubiquitination and degradation of RPS14

Binle Tian et al.

Summary: This study reveals that ZNF280A overexpression is associated with tumor progression and poor prognosis in colorectal cancer (CRC), and its knockdown inhibits the development and progression of CRC. Furthermore, ZNF280A regulates CRC through the downstream target RPS14 and the PI3K-Akt signaling pathway.

FRONTIERS IN ONCOLOGY (2022)

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Article Biology

Identification and validation of a novel signature as a diagnostic and prognostic biomarker in colorectal cancer

Di Wang et al.

Summary: In this study, diagnostic and prognostic models were constructed based on the screened genes of DKC1, FLNA, CSE1L, and NSUN5. The four-gene signature showed excellent ability in diagnosing CRC and predicting prognosis. Our study supports and highlights that the four-gene signature is conducive to better prognostic risk stratification and potential therapeutic targets for CRC patients.

BIOLOGY DIRECT (2022)

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Review Biochemistry & Molecular Biology

Deregulation of ribosomal proteins in human cancers

Wendy El Khoury et al.

Summary: The ribosome, composed of rRNAs and RPs, is the site for protein synthesis. RPs have been shown to play roles in various pathological processes, especially tumorigenesis and cell transformation. This review focuses on recent advances in understanding the effects of RPs deregulation in different types of cancer and their roles in regulating tumor cell fate.

BIOSCIENCE REPORTS (2021)

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Article Cell Biology

Ribosomopathy-associated mutations cause proteotoxic stress that is alleviated by TOR inhibition

Carles Recasens-Alvarez et al.

Summary: Ribosomes are essential molecular machines for protein synthesis, and deficiencies in ribosomal proteins can lead to proteotoxic stress and cell apoptosis. Modulating the integrated stress response and autophagy can affect the severity of ribosomal protein deficiency-induced harm, suggesting potential cytoprotective strategies for ribosomopathies.

NATURE CELL BIOLOGY (2021)

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Review Biochemistry & Molecular Biology

The Role of TCOF1 Gene in Health and Disease: Beyond Treacher Collins Syndrome

Malgorzata Grzanka et al.

Summary: Nucleoli are membrane-less nuclear substructures responsible for ribosome biogenesis and play important roles in various cellular processes. Treacle, encoded by the TCOF1 gene, is a crucial regulator of cellular processes, involved in cancer development and other cellular activities in addition to its association with Treacher Collins syndrome.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

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Article Cell Biology

A positive feedback loop of lncRNA-RMRP/ZNRF3 axis and Wnt/β-catenin signaling regulates the progression and temozolomide resistance in glioma

Tie Liu et al.

Summary: The study revealed that RMRP is highly expressed in glioma, and its knockdown can inhibit cell proliferation, promote apoptosis, reduce resistance to TMZ, and hinder the growth of glioma xenograft tumors. RMRP down-regulates ZNRF3 in glioma cells, while forming a positive feedback loop with Wnt/β-catenin signaling to regulate TMZ resistance in glioma.

CELL DEATH & DISEASE (2021)

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Article Oncology

The Prognostic Value of Whole-Blood PSMB5, CXCR4, POMP, and RPL5 mRNA Expression in Patients with Multiple Myeloma Treated with Bortezomib

Pawel Robak et al.

Summary: The study compared the mRNA expression of nine genes that may influence resistance in multiple myeloma patients treated with bortezomib. RPL5 was significantly down-regulated in MM patients, while POMP was significantly up-regulated in bortezomib-refractory patients. High expression of PSMB5 and CXCR, as well as autologous stem cell transplantation, were found to be independent predictors of progression-free survival, while high expression of POMP and RPL5 was associated with shorter overall survival.

CANCERS (2021)

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Review Oncology

TERT promoter mutations and melanoma survival: A comprehensive literature review and meta-analysis

Sara Gandini et al.

Summary: Somatic mutations of the TERT gene promoter are associated with worse overall survival in melanoma patients, especially in non-acral cutaneous melanomas. Limited evidence suggests a detrimental effect of TERT mutations on various survival measures.

CRITICAL REVIEWS IN ONCOLOGY HEMATOLOGY (2021)

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Article Biochemistry & Molecular Biology

Atovaquone Suppresses Triple-Negative Breast Tumor Growth by Reducing Immune-Suppressive Cells

Nehal Gupta et al.

Summary: Atovaquone reduces the growth of triple-negative breast tumors by decreasing immunosuppressive cells, cytokines, and regulatory T cells in the tumor microenvironment, showing potential as an anticancer therapeutic strategy.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

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Review Cell Biology

Human rDNA and Cancer

Evgeny Smirnov et al.

Summary: The rDNA locus in human cells is a fragile site of the genome with high risk of instability leading to cancer, characterized by repetitive and highly transcribed nature. It contains functional regions producing non-coding RNAs that participate in activity regulation and stress reactions, showing potential as therapeutic targets for cancer treatment. Variability in the structure of the locus may contribute to malignant transformation, highlighting the importance of rDNA in carcinogenesis.

CELLS (2021)

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Article Medicine, Research & Experimental

Inhibition of DKC1 induces telomere-related senescence and apoptosis in lung adenocarcinoma

Guangyan Kan et al.

Summary: The study revealed that high expression of DKC1 in LUAD indicates poor prognosis, and downregulation of DKC1 can induce telomere-related cell senescence and apoptosis. This suggests that DKC1 could potentially serve as a candidate diagnostic biomarker and therapeutic target for LUAD.

JOURNAL OF TRANSLATIONAL MEDICINE (2021)

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Article Multidisciplinary Sciences

Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome

Carson J. Bryant et al.

Summary: Alopecia, neurologic defects, and endocrinopathy (ANE) syndrome is a rare ribosomopathy caused by a variant in the RBM28 gene. A new case of ANE syndrome was reported, with the patient exhibiting alopecia, craniofacial malformations, hypoplastic pituitary, and hair and skin abnormalities. This patient had biallelic splicing variants in RBM28, resulting in skipping of mutant exons and potentially impacting protein function.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2021)

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Article Cell Biology

SMYD2 promotes tumorigenesis and metastasis of lung adenocarcinoma through RPS7

Lei Wu et al.

Summary: The study showed that SMYD2 is significantly upregulated in lung adenocarcinoma (LUAD), and its high expression is associated with shorter survival rates in patients. RNA-seq and chromatin immunoprecipitation-quantitative PCR revealed that SMYD2 may promote tumor cell proliferation and metastasis by activating RPS7.

CELL DEATH & DISEASE (2021)

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Review Cell Biology

Long Non-coding RNA RMRP in the Pathogenesis of Human Disorders

Bashdar Mahmud Hussen et al.

Summary: RMRP, a non-coding transcript associated with cartilage-hair hypoplasia syndrome, plays a role in cancer pathogenesis as a sponge for miRNAs such as miR-206, miR-613, and miR-217, affecting the expression of multiple miRNAs.

FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2021)

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Article Oncology

Downregulation of RPS14 inhibits the proliferation and metastasis of estrogen receptor-positive breast cancer cells

Xiu Wang et al.

Summary: RPS14 is highly expressed in ER+ breast cancer tissues, and its downregulation significantly inhibits the proliferation, cycle, and metastasis of breast cancer cells, while inducing apoptosis. Several significant genes are altered in breast cancer cells after RPS14 downregulation, with BAG2 and interferon signaling pathways being identified as significantly activated.

ANTI-CANCER DRUGS (2021)

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Article Hematology

Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome

Sangmoon Lee et al.

Summary: This study presents three unrelated Korean SDS patients with biallelic pathogenic variants in EFL1, generated from bone marrow-specific somatic uniparental disomy in chromosome 15. These recombination events resulted in homozygosity for a relatively milder variant, which could evade catastrophic physiologic consequences but still impair 80S ribosome assembly and induce SDS features. Loss of EFL1 led to inhibition of terminal oligopyrimidine element-containing ribosomal protein transcript 80S assembly, proposing a more accurate pathogenesis mechanism of EFL1 dysfunction in SDS.

BLOOD (2021)

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Article Oncology

RPL35A is a key promotor involved in the development and progression of gastric cancer

Fang Wu et al.

Summary: RPL35A expression is highly up-regulated in gastric cancer and positively correlated with tumor infiltrate. Knockdown of RPL35A significantly inhibits cell proliferation, migration, enhances apoptosis, and arrests the cell cycle. In vivo experiments confirm the inhibitory effects of RPL35A knockdown on gastric cancer tumorigenesis.

CANCER CELL INTERNATIONAL (2021)

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Review Biochemistry & Molecular Biology

Targeting cancer via ribosome biogenesis: the cachexia perspective

Vandre Casagrande Figueiredo et al.

Summary: Cancer cachexia poses a significant threat to the health of cancer patients, with chemotherapy drugs potentially exacerbating muscle wasting through their effects on ribosome biogenesis. Middle-aged and older individuals as well as physically inactive patients are particularly vulnerable to the negative impacts of chemotherapy on skeletal muscle ribosome biogenesis, ultimately leading to muscle mass and function deterioration. Recommendations to mitigate these effects are proposed in order to improve patient outcomes.

CELLULAR AND MOLECULAR LIFE SCIENCES (2021)

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Article Cell Biology

LncRNA RNA Component of Mitochondrial RNA-Processing Endoribonuclease Promotes AKT-Dependent Breast Cancer Growth and Migration by Trapping MicroRNA-206

Yingdan Huang et al.

Summary: The RNA component RMRP is highly expressed in various malignant cancers and associated with poor prognosis. It indirectly elevates AKT expression and promotes breast cancer progression, with AKT knockdown abolishing RMRP-induced cancer cell growth and migration.

FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2021)

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Article Biotechnology & Applied Microbiology

lncRNA RMRP predicts poor prognosis and mediates tumor progression of esophageal squamous cell carcinoma by regulating miR-613/ neuropilin 2 (NRP2) axis

Zhen Xie et al.

Summary: The RNA component RMRP is upregulated in ESCC and is associated with lymph node metastasis, TNM stage, and poor prognosis in ESCC patients. RMRP promotes proliferation, migration, and invasion of ESCC cells through regulation of the miR-613/NRP2 axis, providing a potential target for ESCC treatment.

BIOENGINEERED (2021)

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Article Genetics & Heredity

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

Ken McElreavey et al.

GENETICS IN MEDICINE (2020)

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Article Biochemistry & Molecular Biology

lncRNA RMRP knockdown suppress hepatocellular carcinoma biological activities via regulation miRNA-206/TACR1

Zhao Hongfeng et al.

JOURNAL OF CELLULAR BIOCHEMISTRY (2020)

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Article Hematology

Cancer spectrum and outcomes in the Mendelian short telomere syndromes

Kristen E. Schratz et al.

BLOOD (2020)

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Article Oncology

DKC1 enhances angiogenesis by promoting HIF-1α transcription and facilitates metastasis in colorectal cancer

Pingfu Hou et al.

BRITISH JOURNAL OF CANCER (2020)

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Article Medicine, Research & Experimental

RPS24c Isoform Facilitates Tumor Angiogenesis Via Promoting the Stability of MVIH in Colorectal Cancer

Yue Wang et al.

CURRENT MOLECULAR MEDICINE (2020)

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Article Biochemistry & Molecular Biology

Cancer-associated mutations in the ribosomal protein L5 gene dysregulate the HDM2/p53-mediated ribosome biogenesis checkpoint

Ines Orsolic et al.

ONCOGENE (2020)

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Review Cell Biology

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MeCP2 facilitates breast cancer growth via promoting ubiquitination-mediated P53 degradation by inhibiting RPL5/RPL11 transcription

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The nucleolar-related protein Dyskerin pseudouridine synthase 1 (DKC1) predicts poor prognosis in breast cancer

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DHX37 Impacts Prognosis of Hepatocellular Carcinoma and Lung Adenocarcinoma through Immune Infiltration

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LncRNA RMRP silence curbs neonatal neuroblastoma progression by regulating microRNA-206/tachykinin-1 receptor axis via inactivating extracellular signal-regulated kinases

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The human RNA helicase DHX37 is required for release of the U3 snoRNP from pre-ribosomal particles

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Ataluren-driven restoration of Shwachman-Bodian-Diamond syndrome protein function in Shwachman-Diamond syndrome bone marrow cells

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Oxidatively Modified Protein-Disulfide Isomerase-Associated 3 Promotes Dyskerin Pseudouridine Synthase 1-Mediated Malignancy and Survival of Hepatocellular Carcinoma Cells

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Lack of effective translational regulation of PLD expression and exosome biogenesis in triple-negative breast cancer cells

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Low frequency mutations in ribosomal proteins RPL10 and RPL5 in multiple myeloma

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Letter Hematology

Low frequency mutations in ribosomal proteins RPL10 and RPL5 in multiple myeloma

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MYC-Driven Neuroblastomas Are Addicted to a Telomerase-Independent Function of Dyskerin

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RPS24 knockdown inhibits colorectal cancer cell migration and proliferation in vitro

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Silencing expression of ribosomal protein L26 and L29 by RNA interfering inhibits proliferation of human pancreatic cancer PANC-1 cells

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NOL11, Implicated in the Pathogenesis of North American Indian Childhood Cirrhosis, Is Required for Pre-rRNA Transcription and Processing

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Ribosomal protein gene deletions in Diamond-Blackfan anemia

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The Bowen-Conradi syndrome protein Nep1 (Emg1) has a dual role in eukaryotic ribosome biogenesis, as an essential assembly factor and in the methylation of Ψ1191 in yeast 18S rRNA

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RPL36 as a prognostic marker in hepatocellular carcinoma

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Loss of Function of the Tumor Suppressor DKC1 Perturbs p27 Translation Control and Contributes to Pituitary Tumorigenesis

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Identification of ribosomal protein L19 as a novel tumor antigen recognized by autologous cytotoxic T lymphocytes in lung adenocarcinoma

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Deregulation of oncogene-induced senescence and p53 translational control in X-linked dyskeratosis congenita

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Article Hematology

Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations

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Chemotherapeutic Drugs Inhibit Ribosome Biogenesis at Various Levels

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BLOOD (2009)

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DKC1 overexpression associated with prostate cancer progression

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Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients

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Extended follow-up of the Finnish cartilage-hair hypoplasia cohort confirms high incidence of non-Hodgkin lymphoma and basal cell carcinoma

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AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)

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Article Hematology

Ribosomal protein S19 deficiency in zebrafish leads to developmental abnormalities and defective erythropoiesis through activation of p53 protein family

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Article Hematology

Ribosomal dysfunction and inherited marrow failure

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Identification of RPS14 as a 5q- syndrome gene by RNA interference screen

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Loss of p53 synthesis in zebrafish tumors with ribosomal protein gene mutations

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PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)

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Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome

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The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast

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Review Cell Biology

RNase MRP RNA and human genetic diseases

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CELL RESEARCH (2007)

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Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism

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Genomic integration of oncogenic HPV and gain of the human telomerase gene TERC at 3q26 are strongly associated events in the progression of uterine cervical dysplasia to invasive cancer

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Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita

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Selection of tumour specific promoters for adenoviral gene therapy of cholangiocarcinoma

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Mutual interactions between subunits of the human RNase MRP ribonucleoprotein complex

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NUCLEIC ACIDS RESEARCH (2004)

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Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity

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BRITISH JOURNAL OF HAEMATOLOGY (2004)

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RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations

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BRITISH JOURNAL OF HAEMATOLOGY (2004)

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Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing

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PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)

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Inhibition of MDM2-mediated p53 ubiquitination and degradation by ribosomal protein L5

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Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification

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A missense mutation (R565W) in Cirhin (FLJ14728) in North American Indian childhood cirrhosis

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The World Health Organization (WHO) classification of the myeloid neoplasms

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Potentials of ribosomopathy gene as pharmaceutical targets for cancer treatment

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