Recently, the FDA granted accelerated approvals for four exon skipping therapies – Eteplirsen, Golodirsen, Viltolarsen, and Casimersen – for Duchenne Muscular Dystrophy (DMD). However, current […]
To achieve dystrophin replacement gene therapy for Duchenne Muscular Dystrophy (DMD), the dystrophin protein must be truncated to microdystrophin due to the limited packaging capacity […]
Dystrophin is a sarcolemma protein that acts as a link between the intracellular cytoskeleton and the extracellular matrix. Absence or deficiency of dystrophin, due to […]
Background: Adeno-associated virus (AAV) based gene therapies are emerging in Duchenne muscular dystrophy (DMD). Exposure to wild-type AAV can lead to development of neutralizing antibodies […]
Background: Facioscapulohumeral muscular dystrophy (FSHD) is caused by transcriptional de-repression of the double homeobox 4 (DUX4) transcription factor. FSHD myoblasts have significant delays in plasmalemmal […]
Facioscapulohumeral muscular dystrophy (FSHD) is caused by aberrant expression of double homeobox 4 (DUX4) due to epigenetic changes in the D4Z4 macrosatellite array at chromosome […]
Facioscapulohumeral muscular dystrophy (FSHD), one of the most common forms of muscular dystrophy, is a rare monogenic disease that currently has no effective treatment. It […]
Injury to skeletal muscle fibers triggers tissue-wide reparative and regenerative responses. Poor repair of injured muscle cells, as observed in muscle diseases such as Limb-Girdle-Muscular-Dystrophy-2B […]
Low blood phosphate (Pi) reduces muscle function in hypophosphatemic disorders. We previously found that mice with conditional ablation of the house-keeping phosphate transporters Pit1 and […]