Cancer Biogenesis in Ribosomopathies

Tumor mutational load predicts survival after immunotherapy across multiple cancer types

(2019) Robert M. Samstein et al.   NATURE GENETICS

Ribosome-Targeting Antibiotics: Modes of Action, Mechanisms of Resistance, and Implications for Drug Design

(2018) Jinzhong Lin et al.   Annual Review of Biochemistry

The ribosomal RPL10 R98S mutation drives IRES-dependent BCL-2 translation in T-ALL

(2018) Kim R. Kampen et al.   LEUKEMIA

Serine Catabolism by SHMT2 Is Required for Proper Mitochondrial Translation Initiation and Maintenance of Formylmethionyl-tRNAs

(2018) Denise R. Minton et al.   MOLECULAR CELL

Heterogeneity and specialized functions of translation machinery: from genes to organisms

(2018) Naomi R. Genuth et al.   NATURE REVIEWS GENETICS

Oxidative stress damages rRNA inside the ribosome and differentially affects the catalytic center

(2018) Jessica Willi et al.   NUCLEIC ACIDS RESEARCH

Increased risk of colon cancer and osteogenic sarcoma in Diamond Blackfan anemia

(2018) Adrianna Vlachos et al.   BLOOD

The Discovery of Ribosome Heterogeneity and Its Implications for Gene Regulation and Organismal Life

(2018) Naomi R. Genuth et al.   MOLECULAR CELL

Ribosomal protein L10 in mitochondria serves as a regulator for ROS level in pancreatic cancer cells

(2018) Jun Yang et al.   Redox Biology

Ribosomal Lesions Promote Oncogenic Mutagenesis

(2018) Sergey O. Sulima et al.   CANCER RESEARCH

The roles of moonlight ribosomal proteins in the development of human cancers

(2018) Ghader Molavi et al.   JOURNAL OF CELLULAR PHYSIOLOGY

Ribosome assembly coming into focus

(2018) Sebastian Klinge et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Targeted CRISPR disruption reveals a role for RNase MRP RNA in human preribosomal RNA processing

(2017) Katherine C. Goldfarb et al.   GENES & DEVELOPMENT

Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up

(2017) Blanche P. Alter et al.   HAEMATOLOGICA

The T-cell leukemia-associated ribosomal RPL10 R98S mutation enhances JAK-STAT signaling

(2017) T Girardi et al.   LEUKEMIA

Tumor Mutational Burden as an Independent Predictor of Response to Immunotherapy in Diverse Cancers

(2017) Aaron M. Goodman et al.   MOLECULAR CANCER THERAPEUTICS

Ribosomopathies: There’s strength in numbers

(2017) Eric W. Mills et al.   SCIENCE

How Ribosomes Translate Cancer

(2017) Sergey O. Sulima et al.   Cancer Discovery

Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up

(2017) Blanche P. Alter et al.   HAEMATOLOGICA

Structure and Function of the Mitochondrial Ribosome

(2016) Basil J. Greber et al.   Annual Review of Biochemistry

Probing the mechanisms underlying human diseases in making ribosomes

(2016) K. I. Farley et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia

(2016) Paola Quarello et al.   BRITISH JOURNAL OF HAEMATOLOGY

Lactate Wreaks Havoc on Tumor-Infiltrating T and NK Cells

(2016) Kristen E.N. Scott et al.   Cell Metabolism

Mesenchymal Inflammation Drives Genotoxic Stress in Hematopoietic Stem Cells and Predicts Disease Evolution in Human Pre-leukemia

(2016) Noemi A. Zambetti et al.   Cell Stem Cell

Shwachman–Bodian–Diamond syndrome (SBDS) protein deficiency impairs translation re-initiation fromC/EBPαandC/EBPβmRNAs

(2016) Kyungmin In et al.   NUCLEIC ACIDS RESEARCH

Proposing a mechanism of action for ataluren

(2016) Nadeem Siddiqui et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Structure–function insights reveal the human ribosome as a cancer target for antibiotics

(2016) Alexander G. Myasnikov et al.   Nature Communications

Recurrent genetic defects on chromosome 5q in myeloid neoplasms

(2016) Naoko Hosono et al.   Oncotarget

Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome

(2016) Silvia Ravera et al.   Scientific Reports

Reprogramming the genetic code: The emerging role of ribosomal frameshifting in regulating cellular gene expression

(2015) Vivek M. Advani et al.   BIOESSAYS

Ribosomopathies and the paradox of cellular hypo- to hyperproliferation

(2015) K. De Keersmaecker et al.   BLOOD

Whole-exome sequencing in relapsing chronic lymphocytic leukemia: clinical impact of recurrent RPS15 mutations

(2015) V. Ljungstrom et al.   BLOOD

Oxidative Stress, Bone Marrow Failure, and Genome Instability in Hematopoietic Stem Cells

(2015) Christine Richardson et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Mechanism of eIF6 release from the nascent 60S ribosomal subunit

(2015) Félix Weis et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Mutational landscape determines sensitivity to PD-1 blockade in non-small cell lung cancer

(2015) N. A. Rizvi et al.   SCIENCE

‘View From A Bridge’: A New Perspective on Eukaryotic rRNA Base Modification

(2015) Sunny Sharma et al.   TRENDS IN BIOCHEMICAL SCIENCES

Mechanism of eIF6 release from the nascent 60S ribosomal subunit

(2015) Félix Weis et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Partial Loss of Rpl11 in Adult Mice Recapitulates Diamond-Blackfan Anemia and Promotes Lymphomagenesis

(2015) Lucia Morgado-Palacin et al.   Cell Reports

L-Leucine improves the anaemia in models of Diamond Blackfan anaemia and the 5q- syndrome in a TP53-independent way

(2014) Anupama Narla et al.   BRITISH JOURNAL OF HAEMATOLOGY

Programmed Translational Readthrough Generates Antiangiogenic VEGF-Ax

(2014) Sandeepa M. Eswarappa et al.   CELL

ROS Function in Redox Signaling and Oxidative Stress

(2014) Michael Schieber et al.   CURRENT BIOLOGY

p53 and ribosome biogenesis stress: The essentials

(2014) Lior Golomb et al.   FEBS LETTERS

Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan Anemia

(2014) Anna Aspesi et al.   GENE

Altered translation of GATA1 in Diamond-Blackfan anemia

(2014) Leif S Ludwig et al.   NATURE MEDICINE

Defects of protein production in erythroid cells revealed in a zebrafish Diamond–Blackfan anemia model for mutation in RPS19

(2014) Y Zhang et al.   Cell Death & Disease

Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial

(2014) Eitan Kerem et al.   Lancet Respiratory Medicine

Cytoplasmic ribosomal protein S3 (rpS3) plays a pivotal role in mitochondrial DNA damage surveillance

(2013) YongJoong Kim et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Ribosomal Protein S14 Negatively Regulates c-Myc Activity

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

The Proto-oncometabolite Fumarate Binds Glutathione to Amplify ROS-Dependent Signaling

(2013) Lucas B. Sullivan et al.   MOLECULAR CELL

Eukaryotic rpL10 drives ribosomal rotation

(2013) Sergey O. Sulima et al.   NUCLEIC ACIDS RESEARCH

Dyskerin depletion increases VEGF mRNA internal ribosome entry site-mediated translation

(2013) Laura Rocchi et al.   NUCLEIC ACIDS RESEARCH

Ribosomal proteins L5 and L11 co-operatively inactivate c-Myc via RNA-induced silencing complex

(2013) J-M Liao et al.   ONCOGENE

Phase 2a Study of Ataluren-Mediated Dystrophin Production in Patients with Nonsense Mutation Duchenne Muscular Dystrophy

(2013) Richard S. Finkel et al.   PLoS One

Dietary L-leucine improves the anemia in a mouse model for Diamond-Blackfan anemia

(2012) P. Jaako et al.   BLOOD

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

(2012) S. Rao et al.   BLOOD

L-leucine improves the anemia and developmental defects associated with Diamond-Blackfan anemia and del(5q) MDS by activating the mTOR pathway

(2012) E. M. Payne et al.   BLOOD

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

(2012) G. Donati et al.   CANCER RESEARCH

A Translation-Like Cycle Is a Quality Control Checkpoint for Maturing 40S Ribosome Subunits

(2012) Bethany S. Strunk et al.   CELL

Integrity of the P-site is probed during maturation of the 60S ribosomal subunit

(2012) Cyril Bussiere et al.   JOURNAL OF CELL BIOLOGY

One core, two shells: bacterial and eukaryotic ribosomes

(2012) Sergey Melnikov et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

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

(2012) S. Bursac et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mitochondrial Genome Instability and ROS Enhance Intestinal Tumorigenesis in APCMin/+ Mice

(2011) Dong Kyun Woo et al.   AMERICAN JOURNAL OF PATHOLOGY

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

(2011) R. Horos et al.   BLOOD

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

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

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

(2011) Karen Jack et al.   MOLECULAR CELL

Identification of compounds that decrease the fidelity of start codon recognition by the eukaryotic translational machinery

(2011) J. E. Takacs et al.   RNA

Ribosomopathies: human disorders of ribosome dysfunction

(2010) A. Narla et al.   BLOOD

Ribosomal protein L11 mutation in zebrafish leads to haematopoietic and metabolic defects

(2010) Nadia Danilova et al.   BRITISH JOURNAL OF HAEMATOLOGY

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

(2010) Cristian Bellodi et al.   EMBO JOURNAL

Ribosomal Protein L11 Associates with c-Myc at 5 S rRNA and tRNA Genes and Regulates Their Expression

(2010) Mu-Shui Dai et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

SBDS-deficiency results in deregulation of reactive oxygen species leading to increased cell death and decreased cell growth

(2010) Chhaya Ambekar et al.   PEDIATRIC BLOOD & CANCER

Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer

(2009) Federica Avondo et al.   BMC GENOMICS

Fidelity at the Molecular Level: Lessons from Protein Synthesis

(2009) Hani S. Zaher et al.   CELL

Innate immune and chemically triggered oxidative stress modifies translational fidelity

(2009) Nir Netzer et al.   NATURE

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

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

(2008) Mervi Taskinen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2008) A. W. MacInnes et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

ROS-Generating Mitochondrial DNA Mutations Can Regulate Tumor Cell Metastasis

(2008) K. Ishikawa et al.   SCIENCE