DOCK (dedicator of cytokinesis) proteins are 11-member family of typical guanine exchange factors (GEFs) expressed almost exclusively in the brain and sprain cord. We previously […]
Background: Mitochondrial dysfunction is a pathogenetic mechanism in neurodegenerative disease, including amyotrophic lateral sclerosis (ALS). Specifically, alterations in bioenergetics and mitochondrial function have been described […]
Facioscapulohumeral Muscular Dystrophy (FSHD) is a rare genetic muscular disease and is one of the most common forms of muscular dystrophy with onset typically in […]
Background: PD is a rare neuromuscular disorder caused by deficiency of GAA, a lysosomal glycogen-catabolizing enzyme. Despite availability of a recombinant human GAA enzyme replacement […]
The de novo folate synthesis pathway is an attractive target for the design of antimicrobials, as humans lack this pathway and only derive folate from […]
Skeletal muscle stem and progenitor cells fulfill different functional needs during myogenic development and postnatal maintenance. Understanding how stem and progenitor cells behave across developmental […]
Skeletal muscle experiences mechanical forces that regulate its development, hypertrophy, and homeostasis. The absence of dystrophin underlies the pathology in Duchenne muscular dystrophy, although the […]
The thymus is a primary lymphoid organ that plays an essential role in T lymphocyte maturation and selection during development of one arm of the […]
Background: Gene transfer therapy using systemic adeno-associated virus (AAV) delivery is being extensively investigated for the treatment of monogenic diseases, including Duchenne muscular dystrophy. Clinical […]