Joseph M. Hoolachan

TAS1R3 regulates GTPase signaling in human skeletal muscle cells for glucose uptake.

This study shows TAS1R3 regulates glucose uptake in skeletal muscle via a Rac1 and phospho-cofilin pathway, independent of IRS1-AKT and Galphaq/11, and identifies it as a potential therapeutic target for T2D.

Mifepristone alone and in combination with scAAV9-SMN1 gene therapy improves disease phenotypes in Smn2B/- spinal muscular atrophy mice

This study shows that mifepristone, a glucocorticoid antagonist, improves SMA disease phenotypes in mice, both alone and when combined with SMN gene therapy.

STX4 is indispensable for mitochondrial homeostasis in skeletal muscle

This study shows STX4 is essential for mitochondrial homeostasis in skeletal muscle by regulating mitochondrial biogenesis and mitophagy.

Exercise and disease state influence the beneficial effects of Fn14-depletion on survival and muscle pathology in the SOD1G93A amyotrophic lateral sclerosis (ALS) mouse model

This study shows that Fn14-depletion improves survival and muscle pathology in SOD1G93A ALS mice, but only when combined with exercise.

Combining multi-omics and drug perturbation profiles to identify novel treatments that improve disease phenotypes in spinal muscular atrophy

This study identifies novel drug treatments for spinal muscular atrophy by integrating multi-omics data and drug perturbation profiles, showing harmine improves disease phenotypes in models.