دورية أكاديمية
Rewriting CFTR to cure cystic fibrosis.
| العنوان: | Rewriting CFTR to cure cystic fibrosis. |
|---|---|
| المؤلفون: | Maule G; Department CIBIO, University of Trento, Trento, Italy; Institute of Biophysics, National Research Council, Trento, Italy., Ensinck M; Molecular Virology and Gene Therapy, Department of Pharmaceutical and Pharmacological Sciences, KU Leuven, Flanders, Belgium., Bulcaen M; Molecular Virology and Gene Therapy, Department of Pharmaceutical and Pharmacological Sciences, KU Leuven, Flanders, Belgium., Carlon MS; Molecular Virology and Gene Therapy, Department of Pharmaceutical and Pharmacological Sciences, KU Leuven, Flanders, Belgium. Electronic address: marianne.carlon@kuleuven.be. |
| المصدر: | Progress in molecular biology and translational science [Prog Mol Biol Transl Sci] 2021; Vol. 182, pp. 185-224. Date of Electronic Publication: 2021 Jan 28. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't; Review |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier/AP Country of Publication: Netherlands NLM ID: 101498165 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0814 (Electronic) Linking ISSN: 18771173 NLM ISO Abbreviation: Prog Mol Biol Transl Sci Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Amsterdam ; Boston : Elsevier/AP |
| مواضيع طبية MeSH: | Cystic Fibrosis*/genetics , Cystic Fibrosis*/therapy, Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Gene Editing ; Humans ; Mutant Proteins ; Mutation/genetics |
| مستخلص: | Cystic fibrosis (CF) is an autosomal recessive monogenic disease caused by mutations in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene. Although F508del is the most frequent mutation, there are in total 360 confirmed disease-causing CFTR mutations, impairing CFTR production, function and stability. Currently, the only causal treatments available are CFTR correctors and potentiators that directly target the mutant protein. While these pharmacological advances and better symptomatic care have improved life expectancy of people with CF, none of these treatments provides a cure. The discovery and development of programmable nucleases, in particular CRISPR nucleases and derived systems, rekindled the field of CF gene therapy, offering the possibility of a permanent correction of the CFTR gene. In this review we will discuss different strategies to restore CFTR function via gene editing correction of CFTR mutations or enhanced CFTR expression, and address how best to deliver these treatments to target cells. (Copyright © 2021 Elsevier Inc. All rights reserved.) |
| فهرسة مساهمة: | Keywords: Base editing; Cystic fibrosis; Delivery vehicles; Ex vivo gene editing; Gene editing; Gene therapy; In vivo gene editing; Prime editing; Super-exons |
| المشرفين على المادة: | 0 (CFTR protein, human) 0 (Mutant Proteins) 126880-72-6 (Cystic Fibrosis Transmembrane Conductance Regulator) |
| تواريخ الأحداث: | Date Created: 20210627 Date Completed: 20211125 Latest Revision: 20220531 |
| رمز التحديث: | 20221213 |
| DOI: | 10.1016/bs.pmbts.2020.12.018 |
| PMID: | 34175042 |
| قاعدة البيانات: | MEDLINE |
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