Adenine base editing of the DUX4 polyadenylation signal for targeted genetic therapy in facioscapulohumeral muscular dystrophy

• Main Authors: Darina Šikrová (Author), Vlad A. Cadar (Author), Yavuz Ariyurek (Author), Jeroen F.J. Laros (Author), Judit Balog (Author), Silvère M. van der Maarel (Author)
• Format: Book
• Published: Elsevier, 2021-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Facioscapulohumeral muscular dystrophy (FSHD) is caused by chromatin relaxation of the D4Z4 repeat resulting in misexpression of the D4Z4-encoded DUX4 gene in skeletal muscle. One of the key genetic requirements for the stable production of full-length DUX4 mRNA in skeletal muscle is a functional po...