Results 1 to 10 of about 62,838 (166)
Repurposing tRNAs for nonsense suppression [PDF]
Nature Communications, 2021 Here, the authors report de novo design, optimization and characterization of tRNAs that decode UGA stop codons in E. coli. The structure of the ribosome in a complex with the designed tRNA bound to a UGA stop codon suggests that distinct A-site ligands (
Suki Albers +10 more
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Attenuation of nonsense-mediated mRNA decay enhances in vivo nonsense suppression. [PDF]
PLoS ONE, 2013 Nonsense suppression therapy is an approach to treat genetic diseases caused by nonsense mutations. This therapeutic strategy pharmacologically suppresses translation termination at Premature Termination Codons (PTCs) in order to restore expression of ...
Kim M Keeling +10 more
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Nonsense Suppression as an Approach to Treat Lysosomal Storage Diseases [PDF]
Diseases, 2016 In-frame premature termination codons (PTCs) (also referred to as nonsense mutations) comprise ~10% of all disease-associated gene lesions. PTCs reduce gene expression in two ways.
Kim M. Keeling
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Nonsense Suppression Therapy: An Emerging Treatment for Hereditary Skin Diseases [PDF]
Acta Dermato-Venereologica, 2022 Nonsense mutations cause the premature termination of protein translation via premature termination codons (PTCs), leading to the synthesis of incomplete functional proteins and causing large numbers of genetic disorders.
Jiangfan Yu +5 more
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Nonsense suppression induced readthrough of a novel PAX6 mutation in patient‐derived cells of congenital aniridia [PDF]
Molecular Genetics & Genomic Medicine, 2020 Background Congenital aniridia is a severe ocular abnormality characterized by incomplete formation of the iris and many other ocular complications. Most cases are caused by the paired box 6 (PAX6) gene mutations generating premature termination codons ...
Xiaoliang Liu +4 more
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Nonsense suppression therapies in human genetic diseases. [PDF]
Cell Mol Life Sci, 2021 About 11% of all human disease-associated gene lesions are nonsense mutations, resulting in the introduction of an in-frame premature translation-termination codon (PTC) into the protein-coding gene sequence. When translated, PTC-containing mRNAs originate truncated and often dysfunctional proteins that might be non-functional or have gain-of-function ...
Martins-Dias P, Romão L.
europepmc +3 more sources
Nonsense suppression in archaea. [PDF]
Proc Natl Acad Sci U S A, 2015 Significance Three stop codons are used as translation termination signals within the mRNA. Nonsense suppression is defined as the read through of stop codons in an mRNA by a class of mutant tRNAs called nonsense suppressor tRNAs. Although much is known about nonsense suppression in bacteria (e.g., Escherichia coli
Bhattacharya A +3 more
europepmc +5 more sources
Efficacy of Postnatal In Vivo Nonsense Suppression Therapy in a Pax6 Mouse Model of Aniridia [PDF]
Molecular Therapy: Nucleic Acids, 2017 Nonsense mutations leading to premature stop codons are common occurring in approximately 12% of all human genetic diseases. Thus, pharmacological nonsense mutation suppression strategies would be beneficial to a large number of patients if the drugs ...
Xia Wang +5 more
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Molecular Therapy: Nucleic Acids, 2023 Neurofibromatosis type 1 (NF1) results from germline mutations in the tumor-suppressor gene NF1 and predisposes patients to developing nervous system tumors.
Sara H. Osum +12 more
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Therapeutic Nonsense Suppression Modalities: From Small Molecules to Nucleic Acid-Based Approaches [PDF]
BiomedicinesNonsense mutations are genetic mutations that create premature termination codons (PTCs), leading to truncated, defective proteins in diseases such as cystic fibrosis, neurofibromatosis type 1, Dravet syndrome, Hurler syndrome, Beta thalassemia ...
Pedro Morais, Rui Zhang, Yi-Tao Yu
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