Jeffrey J. Widrick

KLHL40 gene replacement therapy in severe nemaline myopathy improves survival and skeletal muscle function in a preclinical mouse model

Loss of adenylosuccinate synthetase 1 in mice recapitulates features of ADSS1 myopathy

This paper presents a mouse model of ADSS1 myopathy by knocking out Adss1 and characterizes its motor deficits and histopathological features.

Muscle-specific increased expression of JAG1 improves skeletal muscle phenotype in dystrophin-deficient mice.

This study shows that increasing JAG1 expression in dystrophin-deficient mice improves muscle size, strength, and myofiber number.

High resolution kinematic approach for quantifying impaired mobility of dystrophic zebrafish larvae

This paper develops a high-resolution kinematic method to quantify impaired mobility in dystrophic zebrafish larvae, finding significant differences in swimming performance between mutants and wild-types.

KLHL41 orchestrates sarcomere assembly and size to drive skeletal muscle hypertrophy in vivo

This study identifies KLHL41's role in sarcomere assembly and muscle growth in zebrafish models of nemaline myopathy, revealing its importance in myofibril formation and cross-bridge regulation.

Conditional Dystrophin ablation in the skeletal muscle and brain causes profound effects on muscle function, neurobehavior, and extracellular matrix pathways

This study investigates the effects of conditional dystrophin ablation in skeletal muscle and brain, revealing functional deficits and pathway dysregulation in both tissues.

DOCK3 regulates normal skeletal muscle regeneration and glucose metabolism

This study shows that DOCK3 is essential for skeletal muscle regeneration and glucose metabolism, with its loss causing metabolic dysfunction and impaired muscle repair.

Dynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle development and disease onset

This study identifies KLHL40 as a negative regulator of ER-Golgi trafficking through ubiquitylation, revealing its role in skeletal muscle development and disease.

miR-486 is an epigenetic modulator of Duchenne muscular dystrophy pathologies

The paper shows miR-486 is reduced in DMD muscles and its loss causes muscle and cardiac defects, identifying it as a driver of disease and a potential biomarker.

RNA helicase, DDX27 regulates skeletal muscle growth and regeneration by modulation of translational processes

This study identifies DDX27 as a regulator of skeletal muscle growth and regeneration by modulating translational processes and ribosome biogenesis in zebrafish.