Michael A. Lopez

DOCK7 regulates WNT signaling and NMJ clustering in normal and DMD muscle

This study investigates the role of DOCK7 in skeletal muscle and motor neurons, showing its regulation of WNT signaling and AChR clustering in both normal and DMD muscle.

Late-Stage Skeletal Muscle Transcriptome in Duchenne muscular dystrophy shows a BMP4-Induced Molecular Signature

The paper identifies a BMP4-induced molecular signature in late-stage DMD skeletal muscle by comparing transcriptomes of DMD patients and BMP4-stimulated cells.

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.

Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders

This study shows that long-read genome sequencing improves diagnostic yield for neurodevelopmental disorders by identifying variants missed by short-read sequencing.

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.

DOCK3 is a dosage-sensitive regulator of skeletal muscle and Duchenne muscular dystrophy-associated pathologies.

This study investigates the role of DOCK3 in skeletal muscle and Duchenne muscular dystrophy, finding that reducing DOCK3 improves dystrophic muscle histology while complete loss worsens muscle function.