相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Loss of the fragile X syndrome protein FMRP results in misregulation of nonsense-mediated mRNA decay
Tatsuaki Kurosaki et al.
NATURE CELL BIOLOGY (2021)
Identification of RNA pseudouridine sites using deep learning approaches
Abu Zahid Bin Aziz et al.
PLOS ONE (2021)
Therapeutic promise of engineered nonsense suppressor tRNAs
Joseph J. Porter et al.
WILEY INTERDISCIPLINARY REVIEWS-RNA (2021)
Nonsense suppression therapies in human genetic diseases
Patricia Martins-Dias et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2021)
Stop codon context influences genome-wide stimulation of termination codon readthrough by aminoglycosides
Jamie R. Wangen et al.
ELIFE (2020)
Pseudouridine-mediated stop codon readthrough in S. cerevisiae is sequence context-independent
Hironori Adachi et al.
RNA (2020)
Delivery of Antisense Oligonucleotides to the Cornea
Viet Q. Chau et al.
NUCLEIC ACID THERAPEUTICS (2020)
Suppression of Nonsense Mutations by New Emerging Technologies
Pedro Morais et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)
Role of smooth muscle cells in Cardiovascular Disease
Yingzhi Zhuge et al.
INTERNATIONAL JOURNAL OF BIOLOGICAL SCIENCES (2020)
Quality and quantity control of gene expression by nonsense-mediated mRNA decay
Tatsuaki Kurosaki et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2019)
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
Erin K. Kelly et al.
RNA (2019)
Gene Therapy in Retinal Dystrophies
Lucia Ziccardi et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)
Pseudouridinylation of mRNA coding sequences alters translation
Daniel E. Eyler et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2019)
Isogenic cell models of cystic fibrosis-causing variants in natively expressing pulmonary epithelial cells
Hillary C. Valley et al.
JOURNAL OF CYSTIC FIBROSIS (2019)
Efficient RNA pseudouridylation by eukaryotic H/ACA ribonucleoproteins requires high affinity binding and correct positioning of guide RNA
Evan A. Caton et al.
NUCLEIC ACIDS RESEARCH (2018)
Guide-substrate base-pairing requirement for box H/ACA RNA-guided RNA pseudouridylation
Meemanage D. De Zoysa et al.
RNA (2018)
Synergistic Rescue of Nonsense Mutant Tumor Suppressor p53 by Combination Treatment with Aminoglycosides and Mdm2 Inhibitors
Meiqiongzi Zhang et al.
FRONTIERS IN ONCOLOGY (2018)
Targeting mutant p53 for efficient cancer therapy
Vladimir J. N. Bykov et al.
NATURE REVIEWS CANCER (2018)
UMI-tools: modeling sequencing errors in Unique Molecular Identifiers to improve quantification accuracy
Tom Smith et al.
GENOME RESEARCH (2017)
Identification of the amino acids inserted during suppression of CFTR nonsense mutations and determination of their functional consequences
Xiaojiao Xue et al.
HUMAN MOLECULAR GENETICS (2017)
Pathology of Neurodegenerative Diseases
Brittany N. Dugger et al.
COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2017)
Pseudouridines in U2 snRNA stimulate the ATPase activity of Prp5 during spliceosome assembly
Guowei Wu et al.
EMBO JOURNAL (2016)
Robust transcriptome-wide discovery of RNA-binding protein binding sites with enhanced CLIP (eCLIP)
Eric L. Van Nostrand et al.
NATURE METHODS (2016)
Ataluren stimulates ribosomal selection of near-cognate tRNAs to promote nonsense suppression
Bijoyita Roy et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2016)
The Meaning of NMD: Translate or Perish
Saverio Brogna et al.
TRENDS IN GENETICS (2016)
PPUS: a web server to predict PUS-specific pseudouridine sites
Yan-Hui Li et al.
BIOINFORMATICS (2015)
Detained introns are a novel, widespread class of post-transcriptionally spliced introns
Paul L. Boutz et al.
GENES & DEVELOPMENT (2015)
Genetics of cystic fibrosis: CFTR mutation classifications toward genotype-based CF therapies
Pascale Fanen et al.
INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY (2014)
Therapeutic suppression of premature termination codons: Mechanisms and clinical considerations (Review)
John Karijolich et al.
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE (2014)
Pseudouridine profiling reveals regulated mRNA pseudouridylation in yeast and human cells
Thomas M. Carlile et al.
NATURE (2014)
RNA-guided isomerization of uridine to pseudouridine-pseudouridylation
Yi-Tao Yu et al.
RNA BIOLOGY (2014)
Ataluren as an Agent for Therapeutic Nonsense Suppression
Stuart W. Peltz et al.
ANNUAL REVIEW OF MEDICINE, VOL 64 (2013)
STAR: ultrafast universal RNA-seq aligner
Alexander Dobin et al.
BIOINFORMATICS (2013)
Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients
Esmee Oussoren et al.
MOLECULAR GENETICS AND METABOLISM (2013)
Unusual base pairing during the decoding of a stop codon by the ribosome
Israel S. Fernandez et al.
NATURE (2013)
Rules that govern UPF1 binding to mRNA 3′ UTRs
Tatsuaki Kurosaki et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
The Molecular Basis of β-Thalassemia
Swee Lay Thein
COLD SPRING HARBOR PERSPECTIVES IN MEDICINE (2013)
Inducing nonsense suppression by targeted pseudouridylation
Chao Huang et al.
NATURE PROTOCOLS (2012)
Converting nonsense codons into sense codons by targeted pseudouridylation
John Karijolich et al.
NATURE (2011)
Suppression of nonsense mutations as a therapeutic approach to treat genetic diseases
Kim M. Keeling et al.
WILEY INTERDISCIPLINARY REVIEWS-RNA (2011)
BEDTools: a flexible suite of utilities for comparing genomic features
Aaron R. Quinlan et al.
BIOINFORMATICS (2010)
β THALASSAEMIA MUTATIONS IN MEDITERRANEAN POPULATIONS
Antonio Cao et al.
BRITISH JOURNAL OF HAEMATOLOGY (2010)
Box H/ACA Small Ribonucleoproteins
Tamas Kiss et al.
MOLECULAR CELL (2010)
Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation
Dan Wang et al.
MOLECULAR GENETICS AND METABOLISM (2010)
Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo
Christopher R. Heier et al.
HUMAN MOLECULAR GENETICS (2009)
Functionality and substrate specificity of human box H/ACA guide RNAs
Mu Xiao et al.
RNA (2009)
A meta-analysis of nonsense mutations causing human genetic disease
Matthew Mort et al.
HUMAN MUTATION (2008)
Introducing sense into nonsense in treatments of human genetic diseases
Liat Linde et al.
TRENDS IN GENETICS (2008)
Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin
Liat Linde et al.
JOURNAL OF CLINICAL INVESTIGATION (2007)
Aminoglycoside-induced translational read-through in disease: Overcoming nonsense mutations by pharmacogenetic therapy
L. V. Zingman et al.
CLINICAL PHARMACOLOGY & THERAPEUTICS (2007)
Cotranscriptional recognition of human intronic box H/ACA snoRNAs occurs in a splicing-independent manner
P Richard et al.
MOLECULAR AND CELLULAR BIOLOGY (2006)
The many facets of H/ACA ribonucleoproteins
UT Meier
CHROMOSOMA (2005)
Architecture and assembly of mammalian H/ACA small nucleolar and telomerase ribonucleoproteins
C Wang et al.
EMBO JOURNAL (2004)
Nonsense-mediated mRNA decay: Splicing, translation and mRNP dynamics
LE Maquat
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2004)
Human box H/ACA pseudouridylation guide RNA machinery
AM Kiss et al.
MOLECULAR AND CELLULAR BIOLOGY (2004)
Pseudouridylation (Ψ) of U2 snRNA in S-cerevisiae is catalyzed by an RNA-independent mechanism
XJ Ma et al.
EMBO JOURNAL (2003)
An H/ACA guide RNA directs U2 pseudouridylation at two different sites in the branchpoint recognition region in Xenopus oocytes
XL Zhao et al.
RNA (2002)
Gene Expression Omnibus: NCBI gene expression and hybridization array data repository
R Edgar et al.
NUCLEIC ACIDS RESEARCH (2002)
When the message goes awry: Disease-producing mutations that influence mRNA content and performance
JT Mendell et al.
CELL (2001)
分享论文
