We treated a 27-year-old patient with Duchenne's muscular dystrophy (DMD) with
recombinant adeno-associated virus (rAAV) serotype 9 containing d Sa Cas9 (ie,“dead” …

Mutations in mitochondrial DNA (mtDNA) are responsible for several severe diseases that
have no available cures. The multicopy nature of the mitochondrial genome means that …

Macrophages are essential for skeletal muscle homeostasis, but how their dysregulation
contributes to the development of fibrosis in muscle disease remains unclear. Here, we used …

Muscular dystrophies (MDs) comprise a diverse group of inherited disorders characterized
by progressive muscle loss and weakness. Given the genetic etiology underlying MDs …

Abstract Muscular Dystrophy Association (MDA) has invested over $125 M in the
development of gene therapy for neuromuscular disorders (NMD) over the past 20 years. As …

An N-of-1 trial was developed to deliver a dCas9-VP64 transgene designed to upregulate
the cortical dystrophin as a custom therapy for a Duchenne muscular dystrophy (DMD) …

Abstract Mitofusin-2 (MFN2) is an outer mitochondrial membrane protein essential for
mitochondrial networking in most cells. Autosomal dominant mutations in the MFN2 gene …

Entry of enveloped viruses into cells is mediated by viral fusogenic proteins that drive
membrane rearrangements needed for fusion between viral and target membranes. Skeletal …

Chronic muscle inflammation exacerbates the pathogenesis of Duchenne muscular
dystrophy (DMD), which is characterized by progressive muscle degeneration and …

High pre-existing antibodies against viral vectors reduce their functionality and may lead to
adverse complications. To circumvent this problem in future gene therapy approaches, we …