Targeted pseudouridylation: An approach for suppressing nonsense mutations in disease genes

Loss of the fragile X syndrome protein FMRP results in misregulation of nonsense-mediated mRNA decay

(2021) Tatsuaki Kurosaki et al.   NATURE CELL BIOLOGY

Identification of RNA pseudouridine sites using deep learning approaches

(2021) Abu Zahid Bin Aziz et al.   PLoS One

Therapeutic promise of engineered nonsense suppressor tRNAs

(2021) Joseph J. Porter et al.   Wiley Interdisciplinary Reviews-RNA

Nonsense suppression therapies in human genetic diseases

(2021) Patrícia Martins-Dias et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Stop codon context influences genome-wide stimulation of termination codon readthrough by aminoglycosides

(2020) Jamie R Wangen et al.   eLife

Pseudouridine-mediated stop codon read-through in S. cerevisiae is sequence context-independent

(2020) Hironori Adachi et al.   RNA

Delivery of Antisense Oligonucleotides to the Cornea

(2020) Viet Q. Chau et al.   Nucleic Acid Therapeutics

Suppression of Nonsense Mutations by New Emerging Technologies

(2020) Pedro Morais et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Quality and quantity control of gene expression by nonsense-mediated mRNA decay

(2019) Tatsuaki Kurosaki et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Base pairing interactions between substrate RNA and H/ACA guide RNA modulate the kinetics of pseudouridylation, but not the affinity of substrate binding by H/ACA small nucleolar Ribonucleoproteins

(2019) Erin Katelyn Kelly et al.   RNA

Gene Therapy in Retinal Dystrophies

(2019) Ziccardi et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Pseudouridinylation of mRNA coding sequences alters translation

(2019) Daniel E. Eyler et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Guide-substrate base-pairing requirement for box H/ACA RNA-guided RNA pseudouridylation

(2018) Meemanage D. De Zoysa et al.   RNA

Synergistic Rescue of Nonsense Mutant Tumor Suppressor p53 by Combination Treatment with Aminoglycosides and Mdm2 Inhibitors

(2018) Meiqiongzi Zhang et al.   Frontiers in Oncology

Isogenic cell models of cystic fibrosis-causing variants in natively expressing pulmonary epithelial cells

(2018) Hillary C. Valley et al.   Journal of Cystic Fibrosis

UMI-tools: modeling sequencing errors in Unique Molecular Identifiers to improve quantification accuracy

(2017) Tom Smith et al.   GENOME RESEARCH

Identification of the amino acids inserted during suppression of CFTR nonsense mutations and determination of their functional consequences

(2017) Xiaojiao Xue et al.   HUMAN MOLECULAR GENETICS

Efficient RNA pseudouridylation by eukaryotic H/ACA ribonucleoproteins requires high affinity binding and correct positioning of guide RNA

(2017) Evan A Caton et al.   NUCLEIC ACIDS RESEARCH

Pathology of Neurodegenerative Diseases

(2017) Brittany N. Dugger et al.   Cold Spring Harbor Perspectives in Biology

Pseudouridines in U2 snRNA stimulate the ATPase activity of Prp5 during spliceosome assembly

(2016) Guowei Wu et al.   EMBO JOURNAL

Robust transcriptome-wide discovery of RNA-binding protein binding sites with enhanced CLIP (eCLIP)

(2016) Eric L Van Nostrand et al.   NATURE METHODS

Ataluren stimulates ribosomal selection of near-cognate tRNAs to promote nonsense suppression

(2016) Bijoyita Roy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Meaning of NMD: Translate or Perish

(2016) Saverio Brogna et al.   TRENDS IN GENETICS

PPUS: a web server to predict PUS-specific pseudouridine sites: Table 1.

(2015) Yan-Hui Li et al.   BIOINFORMATICS

Detained introns are a novel, widespread class of post-transcriptionally spliced introns

(2015) Paul L. Boutz et al.   GENES & DEVELOPMENT

RNA-guided isomerization of uridine to pseudouridine—pseudouridylation

(2015) Yi-Tao Yu et al.   RNA Biology

Genetics of cystic fibrosis: CFTR mutation classifications toward genotype-based CF therapies

(2014) Pascale Fanen et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Therapeutic suppression of premature termination codons: Mechanisms and clinical considerations (Review)

(2014) JOHN KARIJOLICH et al.   INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE

Pseudouridine profiling reveals regulated mRNA pseudouridylation in yeast and human cells

(2014) Thomas M. Carlile et al.   NATURE

Residual α-l-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients

(2013) Esmee Oussoren et al.   MOLECULAR GENETICS AND METABOLISM

Unusual base pairing during the decoding of a stop codon by the ribosome

(2013) Israel S. Fernández et al.   NATURE

Rules that govern UPF1 binding to mRNA 3′ UTRs

(2013) Tatsuaki Kurosaki et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Molecular Basis of  -Thalassemia

(2013) S. L. Thein   Cold Spring Harbor Perspectives in Medicine

Ataluren as an Agent for Therapeutic Nonsense Suppression

(2012) Stuart W. Peltz et al.   Annual Review of Medicine

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

Inducing nonsense suppression by targeted pseudouridylation

(2012) Chao Huang et al.   Nature Protocols

Converting nonsense codons into sense codons by targeted pseudouridylation

(2011) John Karijolich et al.   NATURE

Suppression of nonsense mutations as a therapeutic approach to treat genetic diseases

(2011) Kim M. Keeling et al.   Wiley Interdisciplinary Reviews-RNA

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

β THALASSAEMIA MUTATIONS IN MEDITERRANEAN POPULATIONS

(2010) Antonio Cao et al.   BRITISH JOURNAL OF HAEMATOLOGY

Box H/ACA Small Ribonucleoproteins

(2010) Tamás Kiss et al.   MOLECULAR CELL

Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo

(2009) Christopher R. Heier et al.   HUMAN MOLECULAR GENETICS

Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation

(2009) Dan Wang et al.   MOLECULAR GENETICS AND METABOLISM

A meta-analysis of nonsense mutations causing human genetic disease

(2008) Matthew Mort et al.   HUMAN MUTATION

Functionality and substrate specificity of human box H/ACA guide RNAs

(2008) M. Xiao et al.   RNA

Introducing sense into nonsense in treatments of human genetic diseases

(2008) Liat Linde et al.   TRENDS IN GENETICS