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 ...
Dan Wang +2 more
exaly +7 more sources
Nonsense Suppression as an Approach to Treat Lysosomal Storage Diseases [PDF]
Diseases (Basel, Switzerland), 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
exaly +7 more sources
Repurposing tRNAs for nonsense suppression. [PDF]
Nat Commun, 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 (
Albers S +10 more
europepmc +7 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 ...
Cheryl Y Gregory-Evans +2 more
exaly +4 more sources
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 ...
Rui Zhang, Pedro Morais, Yi-Tao Yu
exaly +4 more sources
Nonsense Suppression Therapy: An Emerging Treatment for Hereditary Skin Diseases. [PDF]
Acta Derm Venereol, 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.
Yu J +5 more
europepmc +2 more sources
Nonsense suppression induced readthrough of a novel PAX6 mutation in patient-derived cells of congenital aniridia. [PDF]
Mol Genet Genomic Med, 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 ...
Liu X, Zhang Y, Zhang B, Gao H, Qiu C.
europepmc +2 more sources
Use of PTC124 for nonsense suppression therapy targeting BMP4 nonsense variants in vitro and the bmp4st72 allele in zebrafish. [PDF]
PLoS One, 2019 Nonsense suppression therapy (NST) utilizes compounds such as PTC124 (Ataluren) to induce translational read-through of stop variants by promoting the insertion of near cognate, aminoacyl tRNAs that yield functional proteins.
Krall M, Htun S, Slavotinek A.
europepmc +2 more sources
Efficient suppression of endogenous CFTR nonsense mutations using anticodon-engineered transfer RNAs
Molecular Therapy - Nucleic Acids, 2022 Nonsense mutations or premature termination codons (PTCs) comprise ∼11% of all genetic lesions, which result in over 7,000 distinct genetic diseases. Due to their outsized impact on human health, considerable effort has been made to find therapies for ...
John Lueck, Wooree Ko, Joseph J Porter
exaly +3 more sources
Engineered tRNA reduces vision loss in a mouse model of Leber congenital amaurosis. [PDF]
Signal Transduct Target TherPremature termination codons (PTCs) are a major class of pathogenic variants that underlie rare inherited disorders, including forms of childhood blindness.
Shahi PK +12 more
europepmc +2 more sources