Physiological and biochemical studies show that the treatment of a transgenic mouse model carrying recessive Ryr1 mutations with a combination of class II histone deacetylase inhibitors and DNA methyl transferase inhibitors significantly improves skeletal muscle function.

A mouse model of human muscle myopathy is used to provide mechanistic insight, identify possible biomarkers of disease, and suggest possible therapeutic strategies to alleviate muscle weakness.

Novel disease pathways underlie disease pathogenesis in Kelch-related nemaline myopathy through proteomic remodeling.

Quantitative proteomic analysis shows that recessive Ryr1 mutations not only decrease the content of RyR1 protein in muscle, but also affect the content of many other proteins involved in a variety of biological processes.

Dystonin-b-specific mutant mice exhibit late-onset myopathy and cardiomyopathy.

KLHL41 acts as a poly-ubiquitin dependent chaperone that prevents the formation of pathogenic nebulin aggregates associated with muscle disease.

An multi-species approach can be used to identify small molecules with properties that might prove useful for the treatment of some neuromuscular diseases.

A new approach using combination of electron microscopy (EM) and high-speed atomic force microscopy (HS-AFM) clearly demonstrates dynamics of dynamin-amphiphysin complexes during membrane constriction and fission suggesting a novel 'clusterase' model of the dynamin-mediated membrane fission.

Ankyrin-B – through interactions with PI3P lipids, dynactin and RabGAP1L – functions as a critical node in the protein circuitry underlying polarized recycling of α5β1-integrin to enable haptotaxis along fibronectin gradients.

The lncRNA pCharme controls the expression of cardiomyocyte maturation genes and heart development by orchestrating the formation of MATR3-enriched nuclear condensates.