Muscle‐specific gene editing improves molecular and phenotypic defects in a mouse model of myotonic dystrophy type 1
In vivo application of a therapeutic gene editing strategy for permanent deletion of the pathogenetic CTG-repeat amplification in the DMPK gene that causes myotonic dystrophy type 1. Following treatment, diseased mice show a significant improvement of both molecular and phenotypic defects.
Authors
- Germana Falcone (ORCID: https://orcid.org/0000-0002-3508-7623)
- Spyros Tastsoglou (ORCID: https://orcid.org/0000-0002-0316-6239)
- Germana Zaccagnini (ORCID: https://orcid.org/0000-0002-9441-4735)
- Christine Voellenkle (ORCID: https://orcid.org/0000-0003-0824-060X)
- Silvia Mandillo (ORCID: https://orcid.org/0000-0002-4869-0974)
- Mariapaola Izzo (ORCID: https://orcid.org/0000-0002-1142-906X)
- Jonathan Battistini (ORCID: https://orcid.org/0000-0001-8309-4775)
- Ferdinando Scavizzi (ORCID: https://orcid.org/0000-0002-4483-6753)
- Marcello Raspa (ORCID: https://orcid.org/0000-0002-3437-2430)
- Tiziana Orsini (ORCID: https://orcid.org/0000-0003-0023-7916)
- Denisa Baci (ORCID: https://orcid.org/0000-0001-6474-0970)
- S. L. FROLOVA
- Elisabetta Golini
- Georgios Strimpakos (ORCID: https://orcid.org/0000-0002-6021-9704)
- Beatrice Cardinali (ORCID: https://orcid.org/0000-0002-3333-3384)
- Geneviève Gourdon (ORCID: https://orcid.org/0000-0002-3319-1347)
- José Manuel García-Manteiga (ORCID: https://orcid.org/0000-0002-5481-040X)
- Fabio Martelli (ORCID: https://orcid.org/0000-0002-8624-7738)
- Claudia Provenzano (ORCID: https://orcid.org/0000-0002-2497-2985)
Institutions
- Inserm (FR)
- Sorbonne Université (FR)
- IRCCS Policlinico San Donato (IT)
- Institut de Myologie (FR)
- IRCCS Ospedale San Raffaele (IT)
- Institute of Cell Biology and Neurobiology (IT)
- Centre de Recherche en Myologie
- Sapienza University of Rome (IT)
Publication Details
- Journal
- Clinical and Translational Medicine
- Published
- 2025-02-01
- DOI
- https://doi.org/10.1002/ctm2.70227
- Citations
- 6
- Primary Topic
- CRISPR and Genetic Engineering
- Type
- article
- Field-Weighted Citation Impact
- 4.84
Funders
- Ministerul Cercetării, Inovării şi Digitalizării
- European Commission
- Fondazione Telethon
- Ministero della Salute
- AFM-Téléthon