RNA Pseudouridylation in Physiology and Medicine: For Better and for Worse

Eukaryotic stand-alone pseudouridine synthases – RNA modifying enzymes and emerging regulators of gene expression?

(2017) Anne C. Rintala-Dempsey et al.   RNA Biology

Dual nature of pseudouridylation in U2 snRNA: Pus1p-dependent and Pus1p-independent activities in yeasts and higher eukaryotes

(2017) Svetlana Deryusheva et al.   RNA

The importance of being (slightly) modified: The role of rRNA editing on gene expression control and its connections with cancer

(2016) Marianna Penzo et al.   BIOCHIMICA ET BIOPHYSICA ACTA-REVIEWS ON CANCER

Pseudouridylation of 7SK snRNA promotes 7SK snRNP formation to suppress HIV‐1 transcription and escape from latency

(2016) Yang Zhao et al.   EMBO REPORTS

A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition

(2016) Ranad Shaheen et al.   HUMAN GENETICS

A Deafness- and Diabetes-associated tRNA Mutation Causes Deficient Pseudouridinylation at Position 55 in tRNAGluand Mitochondrial Dysfunction

(2016) Meng Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Detection and quantification of RNA 2′-O-methylation and pseudouridylation

(2016) Chao Huang et al.   METHODS

Pseudouridylation meets next-generation sequencing

(2016) Maryam Zaringhalam et al.   METHODS

A reconstituted cell-free assay for the evaluation of the intrinsic activity of purified human ribosomes

(2016) Marianna Penzo et al.   Nature Protocols

Human ribosomes from cells with reduced dyskerin levels are intrinsically altered in translation

(2015) Marianna Penzo et al.   FASEB JOURNAL

Chemical pulldown reveals dynamic pseudouridylation of the mammalian transcriptome

(2015) Xiaoyu Li et al.   Nature Chemical Biology

Transcriptome-wide dynamics of RNA pseudouridylation

(2015) John Karijolich et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Nucleotide modifications within bacterial messenger RNAs regulate their translation and are able to rewire the genetic code

(2015) Thomas Philipp Hoernes et al.   NUCLEIC ACIDS RESEARCH

RMBase: a resource for decoding the landscape of RNA modifications from high-throughput sequencing data

(2015) Wen-Ju Sun et al.   NUCLEIC ACIDS RESEARCH

Dyskerin and TERC expression may condition survival in lung cancer patients

(2015) Marianna Penzo et al.   Oncotarget

Pseudouridine: Still mysterious, but never a fake (uridine)!

(2015) Felix Spenkuch et al.   RNA Biology

Transcriptome-wide Mapping Reveals Widespread Dynamic-Regulated Pseudouridylation of ncRNA and mRNA

(2014) Schraga Schwartz et al.   CELL

Pseudouridine profiling reveals regulated mRNA pseudouridylation in yeast and human cells

(2014) Thomas M. Carlile et al.   NATURE

Inhibition of Human Dyskerin as a New Approach to Target Ribosome Biogenesis

(2014) Laura Rocchi et al.   PLoS One

Transcriptome-Wide Mapping of Pseudouridines: Pseudouridine Synthases Modify Specific mRNAs in S. cerevisiae

(2014) Alexander F. Lovejoy et al.   PLoS One

A Pseudouridine Residue in the Spliceosome Core Is Part of the Filamentous Growth Program in Yeast

(2014) Anindita Basak et al.   Cell Reports

The dyskerin ribonucleoprotein complex as an OCT4/SOX2 coactivator in embryonic stem cells

(2014) Yick W Fong et al.   eLife

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

(2013) Laura Rocchi et al.   NUCLEIC ACIDS RESEARCH

RNA pseudouridylation: new insights into an old modification

(2013) Junhui Ge et al.   TRENDS IN BIOCHEMICAL SCIENCES

H/ACA Small RNA Dysfunctions in Disease Reveal Key Roles for Noncoding RNA Modifications in Hematopoietic Stem Cell Differentiation

(2013) Cristian Bellodi et al.   Cell Reports

Multiscale in situ analysis of the role of dyskerin in lung cancer cells

(2012) Ignacio Fernandez-Garcia et al.   Integrative Biology

Modulating telomerase activity in tumor patients by targeting dyskerin binding site for hTR

(2012) M. Katunaric et al.   MEDICAL HYPOTHESES

MODOMICS: a database of RNA modification pathways—2013 update

(2012) Magdalena A. Machnicka et al.   NUCLEIC ACIDS RESEARCH

Cytoplasmic Skp2 Expression Is Associated with p-Akt1 and Predicts Poor Prognosis in Human Breast Carcinomas

(2012) Jing Liu et al.   PLoS One

Rationalization and prediction of selective decoding of pseudouridine-modified nonsense and sense codons

(2012) M. Parisien et al.   RNA

Mass Spectrometry-Based Quantification of Pseudouridine in RNA

(2011) Balasubrahmanyam Addepalli et al.   JOURNAL OF THE AMERICAN SOCIETY FOR MASS SPECTROMETRY

Converting nonsense codons into sense codons by targeted pseudouridylation

(2011) John Karijolich et al.   NATURE

A Meta-Analysis of Genome-Wide Association Scans Identifies IL18RAP, PTPN2, TAGAP, and PUS10 As Shared Risk Loci for Crohn's Disease and Celiac Disease

(2011) Eleonora A. M. Festen et al.   PLoS Genetics

Novel Dyskerin-Mediated Mechanism of p53 Inactivation through Defective mRNA Translation

(2010) Lorenzo Montanaro et al.   CANCER RESEARCH

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

(2010) C. Bellodi et al.   CANCER RESEARCH

U2 snRNA is inducibly pseudouridylated at novel sites by Pus7p and snR81 RNP

(2010) Guowei Wu et al.   EMBO JOURNAL

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

(2010) Cristian Bellodi et al.   EMBO JOURNAL

Dyskerin and cancer: more than telomerase. The defect in mRNA translation helps in explaining how a proliferative defect leads to cancer

(2010) Lorenzo Montanaro   JOURNAL OF PATHOLOGY

A Flexible RNA Backbone within the Polypyrimidine Tract Is Required for U2AF65 Binding and Pre-mRNA Splicing In Vivo

(2010) C. Chen et al.   MOLECULAR AND CELLULAR BIOLOGY

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

Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients

(2010) Suneet Agarwal et al.   NATURE

Multiple common variants for celiac disease influencing immune gene expression

(2010) Patrick C A Dubois et al.   NATURE GENETICS

Genome-wide association identifies multiple ulcerative colitis susceptibility loci

(2010) Dermot P B McGovern et al.   NATURE GENETICS

Spliceosomal snRNA modifications and their function

(2010) John Karijolich et al.   RNA Biology

DKC1 overexpression associated with prostate cancer progression

(2009) P Sieron et al.   BRITISH JOURNAL OF CANCER

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

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

Loss of rRNA modifications in the decoding center of the ribosome impairs translation and strongly delays pre-rRNA processing

(2009) X.-h. Liang et al.   RNA

Ribosome Performance Is Enhanced by a Rich Cluster of Pseudouridines in the A-site Finger Region of the Large Subunit

(2008) Dorota Piekna-Przybylska et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Incorporation of Pseudouridine Into mRNA Yields Superior Nonimmunogenic Vector With Increased Translational Capacity and Biological Stability

(2008) Katalin Karikó et al.   MOLECULAR THERAPY

Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease

(2008) Jeffrey C Barrett et al.   NATURE GENETICS