A5066913777- RNA Research and Splicing
- Muscle Physiology and Disorders
- RNA Interference and Gene Delivery
- Viral Infections and Immunology Research
- Genetic Neurodegenerative Diseases
- Neurogenetic and Muscular Disorders Research
- Virus-based gene therapy research
- RNA modifications and cancer
- CRISPR and Genetic Engineering
- RNA regulation and disease
Nationwide Children's Hospital
2021-2023
The Ohio State University
2023
The Ohio State University Wexner Medical Center
2021
Therapeutic exon skipping as a treatment for Duchenne muscular dystrophy (DMD) has largely concentrated on the delivery of antisense oligomers to treat out-of-frame deletions. Here we report preclinical development an adeno-associated virus (AAV)-encapsidated viral vector containing four copies noncoding U7 small nuclear RNA (U7snRNA), each targeted either splice donor or acceptor sites DMD 2. We have previously shown that this (scAAV9.U7.ACCA) Dup2 mouse model results in expression...
Duchenne muscular dystrophy (DMD) is a progressive X-linked disease caused by mutations in the DMD gene that prevent expression of functional dystrophin protein. Exon duplications represent 6%-11% mutations, and exon 2 (Dup2) are most common (∼11%) duplication mutations. An exon-skipping strategy for Dup2 presents large therapeutic window. Skipping one copy results full-length expression, whereas skipping both copies (Del2) activates an internal ribosomal entry site (IRES) 5, inducing highly...