tRNA therapeutics for genetic diseases
J Coller, Z Ignatova - Nature Reviews Drug Discovery, 2024 - nature.com
Transfer RNAs (tRNAs) have a crucial role in protein synthesis, and in recent years, their
therapeutic potential for the treatment of genetic diseases—primarily those associated with a …
therapeutic potential for the treatment of genetic diseases—primarily those associated with a …
Engineered tRNAs suppress nonsense mutations in cells and in vivo
Nonsense mutations are the underlying cause of approximately 11% of all inherited genetic
diseases. Nonsense mutations convert a sense codon that is decoded by tRNA into a …
diseases. Nonsense mutations convert a sense codon that is decoded by tRNA into a …
Modulation of RNA splicing by oligonucleotides: Mechanisms of action and therapeutic implications
Dysregulation of RNA splicing causes many diseases and disorders. Several therapeutic
approaches have been developed to correct aberrant alternative splicing events for the …
approaches have been developed to correct aberrant alternative splicing events for the …
Alteration of protein function by a silent polymorphism linked to tRNA abundance
S Kirchner, Z Cai, R Rauscher, N Kastelic… - PLoS …, 2017 - journals.plos.org
Synonymous single nucleotide polymorphisms (sSNPs) are considered neutral for protein
function, as by definition they exchange only codons, not amino acids. We identified an …
function, as by definition they exchange only codons, not amino acids. We identified an …
Restoration of CFTR function in patients with cystic fibrosis carrying the F508del-CFTR mutation
DD Stefano, VR Villella, S Esposito, A Tosco, A Sepe… - Autophagy, 2014 - Taylor & Francis
Restoration of BECN1/Beclin 1-dependent autophagy and depletion of SQSTM1/p62 by
genetic manipulation or autophagy-stimulatory proteostasis regulators, such as cystamine …
genetic manipulation or autophagy-stimulatory proteostasis regulators, such as cystamine …
[HTML][HTML] Functional restoration of a CFTR splicing mutation through RNA delivery of CRISPR adenine base editor
Cystic fibrosis (CF) is a genetic disease caused by mutations in the CF transmembrane
conductance regulator (CFTR) gene. The 2789+ 5G> A CFTR mutation is a quite frequent …
conductance regulator (CFTR) gene. The 2789+ 5G> A CFTR mutation is a quite frequent …
A deep learning approach to identify gene targets of a therapeutic for human splicing disorders
Pre-mRNA splicing is a key controller of human gene expression. Disturbances in splicing
due to mutation lead to dysregulated protein expression and contribute to a substantial …
due to mutation lead to dysregulated protein expression and contribute to a substantial …
Mutant CFTR Drives TWIST1 mediated epithelial–mesenchymal transition
Cystic fibrosis (CF) is a monogenetic disease resulting from mutations in the Cystic Fibrosis
Transmembrane conductance Regulator (CFTR) gene encoding an anion channel. Recent …
Transmembrane conductance Regulator (CFTR) gene encoding an anion channel. Recent …
Correction of a cystic fibrosis splicing mutation by antisense oligonucleotides
Cystic fibrosis (CF), the most common life‐threatening genetic disease in Caucasians, is
caused by∼ 2,000 different mutations in the CF transmembrane conductance regulator …
caused by∼ 2,000 different mutations in the CF transmembrane conductance regulator …
Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies
AT Joynt, TA Evans, MJ Pellicore… - PLoS …, 2020 - journals.plos.org
Elucidating the functional consequence of molecular defects underlying genetic diseases
enables appropriate design of therapeutic options. Treatment of cystic fibrosis (CF) is an …
enables appropriate design of therapeutic options. Treatment of cystic fibrosis (CF) is an …