Diverse diseases from a ubiquitous process: The ribosomopathy paradox

Slow growth and unstable ribosomal RNA lacking pseudouridine in mouse embryonic fibroblast cells expressing catalytically inactive dyskerin

(2013) Bai-Wei Gu et al.   FEBS LETTERS

Specialization from synthesis: How ribosome diversity can customize protein function

(2013) Aleksandra Filipovska et al.   FEBS LETTERS

Ribosomal Protein S14 Negatively Regulates c-Myc Activity

(2013) Xiang Zhou et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Both endonucleolytic and exonucleolytic cleavage mediate ITS1 removal during human ribosomal RNA processing

(2013) Katherine E. Sloan et al.   JOURNAL OF CELL BIOLOGY

Glutamine methylation in histone H2A is an RNA-polymerase-I-dedicated modification

(2013) Peter Tessarz et al.   NATURE

p53-Mediated Biliary Defects Caused by Knockdown of cirh1a, the Zebrafish Homolog of the Gene Responsible for North American Indian Childhood Cirrhosis

(2013) Benjamin J. Wilkins et al.   PLoS One

Myc and mTOR converge on a common node in protein synthesis control that confers synthetic lethality in Myc-driven cancers

(2013) M. Pourdehnad et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Ribosomal Protein SA Haploinsufficiency in Humans with Isolated Congenital Asplenia

(2013) A. Bolze et al.   SCIENCE

Mutation of the Diamond-Blackfan Anemia Gene Rps7 in Mouse Results in Morphological and Neuroanatomical Phenotypes

(2013) Dawn E. Watkins-Chow et al.   PLoS Genetics

BMS1 Is Mutated in Aplasia Cutis Congenita

(2013) Alexander G. Marneros   PLoS Genetics

Inactivation of ribosomal protein L22 promotes transformation by induction of the stemness factor, Lin28B

(2012) S. Rao et al.   BLOOD

Ribosome Biogenesis and Control of Cell Proliferation: p53 Is Not Alone

(2012) G. Donati et al.   CANCER RESEARCH

Human rpL3 induces G₁/S arrest or apoptosis by modulating p21waf1/cip1levels in a p53-independent manner

(2012) Annapina Russo et al.   CELL CYCLE

Ribosomal biogenesis genes play an essential and p53-independent role in zebrafish pancreas development

(2012) E. Provost et al.   DEVELOPMENT

Frameshift mutation in p53 regulatorRPL26is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia

(2012) Hanna T. Gazda et al.   HUMAN MUTATION

The translational landscape of mTOR signalling steers cancer initiation and metastasis

(2012) Andrew C. Hsieh et al.   NATURE

Exome sequencing identifies mutation in CNOT3 and ribosomal genes RPL5 and RPL10 in T-cell acute lymphoblastic leukemia

(2012) Kim De Keersmaecker et al.   NATURE GENETICS

Specialized ribosomes: a new frontier in gene regulation and organismal biology

(2012) Shifeng Xue et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Ribosomal protein S14 unties the MDM2–p53 loop upon ribosomal stress

(2012) X Zhou et al.   ONCOGENE

Fishing the Molecular Bases of Treacher Collins Syndrome

(2012) Andrea M. J. Weiner et al.   PLoS One

Mammalian Neurogenesis Requires Treacle-Plk1 for Precise Control of Spindle Orientation, Mitotic Progression, and Maintenance of Neural Progenitor Cells

(2012) Daisuke Sakai et al.   PLoS Genetics

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

(2012) Emily F. Freed et al.   PLoS Genetics

The molecular basis of the cartilage-hair hypoplasia–anauxetic dysplasia spectrum

(2011) Christian T. Thiel et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Ribosomal deficiencies in Diamond-Blackfan anemia impair translation of transcripts essential for differentiation of murine and human erythroblasts

(2011) R. Horos et al.   BLOOD

Defective ribosome assembly in Shwachman-Diamond syndrome

(2011) C. C. Wong et al.   BLOOD

Erythropoiesis failure due to RPS19 deficiency is independent of an activated Tp53 response in a zebrafish model of Diamond-Blackfan anaemia

(2011) Hidetsugu Torihara et al.   BRITISH JOURNAL OF HAEMATOLOGY

Ribosome-Mediated Specificity in Hox mRNA Translation and Vertebrate Tissue Patterning

(2011) Nadya Kondrashov et al.   CELL

RETRACTED: Polypyrimidine tract-binding protein regulates the cell cycle through IRES-dependent translation of CDK11p58 in mouse embryonic stem cells

(2011) Satona Ohno et al.   CELL CYCLE

Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome

(2011) A. J. Finch et al.   GENES & DEVELOPMENT

Nucleolar Disruption in Dopaminergic Neurons Leads to Oxidative Damage and Parkinsonism through Repression of Mammalian Target of Rapamycin Signaling

(2011) C. Rieker et al.   JOURNAL OF NEUROSCIENCE

rRNA Pseudouridylation Defects Affect Ribosomal Ligand Binding and Translational Fidelity from Yeast to Human Cells

(2011) Karen Jack et al.   MOLECULAR CELL

mTOR signaling regulates the processing of pre-rRNA in human cells

(2011) Valentina Iadevaia et al.   NUCLEIC ACIDS RESEARCH

p53 Upregulation Is a Frequent Response to Deficiency of Cell-Essential Genes

(2011) Nadia Danilova et al.   PLoS One

Untangling the Phenotypic Heterogeneity of Diamond Blackfan Anemia

(2011) Jason E. Farrar et al.   SEMINARS IN HEMATOLOGY

Eukaryotic 5S rRNA biogenesis

(2011) Martin Ciganda et al.   Wiley Interdisciplinary Reviews-RNA

EMG1 is essential for mouse pre-implantation embryo development

(2010) Xiaoli Wu et al.   BMC DEVELOPMENTAL BIOLOGY

Ribosomal dysfunction and inherited marrow failure

(2010) Karthik A. Ganapathi et al.   BRITISH JOURNAL OF HAEMATOLOGY

Do ribosomopathies explain some cases of common variable immunodeficiency?

(2010) S. Khan et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

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

(2010) Cristian Bellodi et al.   EMBO JOURNAL

Dyskeratosis congenita

(2010) Monica Bessler et al.   FEBS LETTERS

Defects in middle ear cavitation cause conductive hearing loss in the Tcof1 mutant mouse

(2010) Carol A. Richter et al.   HUMAN MOLECULAR GENETICS

Defects in 18 S or 28 S rRNA Processing Activate the p53 Pathway

(2010) Michael Hölzel et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Isolated Congenital Asplenia: A French Nationwide Retrospective Survey of 20 Cases

(2010) Nizar Mahlaoui et al.   JOURNAL OF PEDIATRICS

When ribosomes go bad: diseases of ribosome biogenesis

(2010) Emily F. Freed et al.   Molecular BioSystems

Dyskerin is required for tumor cell growth through mechanisms that are independent of its role in telomerase and only partially related to its function in precursor rRNA processing

(2010) Faizan Alawi et al.   MOLECULAR CARCINOGENESIS

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

(2010) Johannes G Dauwerse et al.   NATURE GENETICS

The C-terminus of Utp4, mutated in childhood cirrhosis, is essential for ribosome biogenesis

(2010) E. F. Freed et al.   NUCLEIC ACIDS RESEARCH

The ribosome assembly factor Nep1 responsible for Bowen–Conradi syndrome is a pseudouridine-N1-specific methyltransferase

(2010) Jan Philip Wurm et al.   NUCLEIC ACIDS RESEARCH

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

(2010) Britta Meyer et al.   NUCLEIC ACIDS RESEARCH

Ribosomal protein S27-like and S27 interplay with p53-MDM2 axis as a target, a substrate and a regulator

(2010) X Xiong et al.   ONCOGENE

Ribosome biogenesis surveillance: probing the ribosomal protein-Mdm2-p53 pathway

(2010) C Deisenroth et al.   ONCOGENE

Systemic aplasia cutis congenita: A case report and review of the literature

(2010) Juan Zhou et al.   PATHOLOGY RESEARCH AND PRACTICE

Mutation of a Gene Essential for Ribosome Biogenesis, EMG1, Causes Bowen-Conradi Syndrome

(2009) Joy Armistead et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Down-regulation of pescadillo inhibits proliferation and tumorigenicity of breast cancer cells

(2009) Jun Li et al.   CANCER SCIENCE

Regulation of Translation Initiation in Eukaryotes: Mechanisms and Biological Targets

(2009) Nahum Sonenberg et al.   CELL

Toward a structural understanding of IRES RNA function

(2009) Megan E Filbin et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

Ribosomal protein S3: A multi-functional protein that interacts with both p53 and MDM2 through its KH domain

(2009) Sridevi Yadavilli et al.   DNA REPAIR

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

(2009) P. Quarello et al.   HAEMATOLOGICA

The rise of a ribosomopathy and increased cancer risk

(2009) Friedrich Luft   JOURNAL OF MOLECULAR MEDICINE-JMM

The p53 Tumor Suppressor Causes Congenital Malformations in Rpl24-Deficient Mice and Promotes Their Survival

(2009) M. Barkic et al.   MOLECULAR AND CELLULAR BIOLOGY

Dyskerin Ablation in Mouse Liver Inhibits rRNA Processing and Cell Division

(2009) J. Ge et al.   MOLECULAR AND CELLULAR BIOLOGY

Absence of nucleolar disruption after impairment of 40S ribosome biogenesis reveals an rpL11-translation-dependent mechanism of p53 induction

(2009) Stefano Fumagalli et al.   NATURE CELL BIOLOGY

A p53-dependent mechanism underlies macrocytic anemia in a mouse model of human 5q– syndrome

(2009) Jillian L Barlow et al.   NATURE MEDICINE

Nucleotide modifications in three functionally important regions of the Saccharomyces cerevisiae ribosome affect translation accuracy

(2009) Agnès Baudin-Baillieu et al.   NUCLEIC ACIDS RESEARCH

A Zebrafish Model for the Shwachman-Diamond Syndrome (SDS)

(2009) Narayanan Venkatasubramani et al.   PEDIATRIC RESEARCH

Alopecia, Neurological Defects, and Endocrinopathy Syndrome Caused by Decreased Expression of RBM28, a Nucleolar Protein Associated with Ribosome Biogenesis

(2008) Janna Nousbeck et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2008) Hanna T. Gazda et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Emerging functions of ribosomal proteins in gene-specific transcription and translation

(2008) Mikael S. Lindström   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

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

(2008) N. Danilova et al.   BLOOD

Deficient RPS19 protein production induces cell cycle arrest in erythroid progenitor cells

(2008) Madoka Kuramitsu et al.   BRITISH JOURNAL OF HAEMATOLOGY

The post-transcriptional steps of eukaryotic ribosome biogenesis

(2008) A. K. Henras et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome

(2008) Karyn M. Austin et al.   JOURNAL OF CLINICAL INVESTIGATION

Mdm2 Regulates p53 mRNA Translation through Inhibitory Interactions with Ribosomal Protein L26

(2008) Yaara Ofir-Rosenfeld et al.   MOLECULAR CELL

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

(2008) Benjamin L. Ebert et al.   NATURE

Suppression of Myc oncogenic activity by ribosomal protein haploinsufficiency

(2008) Maria Barna et al.   NATURE

Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects

(2008) Kelly A McGowan et al.   NATURE GENETICS

Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function

(2008) Natalie C Jones et al.   NATURE MEDICINE

Using Ribosomal Protein Genes as Reference: A Tale of Caution

(2008) Lieven Thorrez et al.   PLoS One

A pathogenic dyskerin mutation impairs proliferation and activates a DNA damage response independent of telomere length in mice

(2008) B.-W. Gu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The role of human ribosomal proteins in the maturation of rRNA and ribosome production

(2008) S. Robledo et al.   RNA

Re-programming of translation following cell stress allows IRES-mediated translation to predominate

(2007) Keith A. Spriggs et al.   BIOLOGY OF THE CELL