6533b82dfe1ef96bd1291fa4

RESEARCH PRODUCT

Investigating REPAIRv2 as a Tool to Edit CFTR mRNA with Premature Stop Codons

Raffaella MelfiAldo Di LeonardoRoberta Flavia ChiavettaPatrizia CancemiLaura LentiniViviana Barra

subject

congenital hereditary and neonatal diseases and abnormalitiesRNA editingMutantNonsense mutationSettore BIO/11 - Biologia MolecolareBiologyCRISPR/dCas13bCatalysislcsh:Chemistrycystic fibrosisInorganic ChemistryGuide RNASettore BIO/06 - Anatomia Comparata E CitologiaPhysical and Theoretical Chemistrylcsh:QH301-705.5Molecular BiologyGeneSpectroscopyMessenger RNApremature termination codons (PTCs)Organic ChemistryGeneral Medicinerespiratory systemStop codonTransmembrane proteinrespiratory tract diseasesComputer Science ApplicationsCell biologySettore BIO/18 - Geneticalcsh:Biology (General)lcsh:QD1-999RNA editing

description

Cystic fibrosis (CF) is caused by mutations in the gene encoding the transmembrane conductance regulator (CFTR) protein. Some CF patients are compound heterozygous or homozygous for nonsense mutations in the CFTR gene. This implies the presence in the transcript of premature termination codons (PTCs) responsible for a truncated CFTR protein and a more severe form of the disease. Aminoglycoside and PTC124 derivatives have been used for the read-through of PTCs to restore the full-length CFTR protein. However, in a precision medicine framework, the CRISPR/dCas13b-based molecular tool &ldquo

yearjournalcountryeditionlanguage
2020-07-06International Journal of Molecular Sciences
https://doi.org/10.3390/ijms21134781