Background: Triosephosphate Isomerase (TPI) is a glycolytic enzyme that is responsible for the interconversion of dihydroxyacetone phosphate (DHAP) and glyceraldehyde-3-phosphate (G3P). Depletion of TPI protein […]
The complement system is a crucial component of innate immunity and is associated with pathogenesis of numerous diseases, including amyotrophic lateral sclerosis (ALS). Upregulation of […]
Amyotrophic lateral sclerosis (ALS) is an adult-onset, fatal neurodegenerative disorder involving the progressive loss of motor neurons of the brain and spinal cord. Because ALS […]
Several inherited muscular dystrophies are defined by an enhanced injury response to exercise. However, current understanding of how muscle injury is defined depending on the […]
Background: Members in the Dedicator of cytokinesis (DOCK) family of atypical GEFs have critical roles in muscle fusion and regeneration, including DOCK1, DOCK3, and DOCK5. […]
Duchenne muscular dystrophy (DMD), an early lethal X-linked muscle wasting disease caused by dystrophin loss, has few effective treatment options. While exon-skipping and CRISPR correction […]
The dystrophinopathies (Duchenne and Becker muscular dystrophies) encompass a spectrum of disorders caused by mutations in the DMD gene, resulting in reduced or absent dystrophin […]
Background: In preparation for upcoming clinical trials involving patients with DMD, there is a clear need for reliable, sensitive, and disease-specific patient and caregiver reported […]
Magnetic resonance (MR) measures of muscle fat fraction are highly sensitive to disease progression and predict meaningful functional milestones in DMD. However, the minimum clinically […]