Sharon L. Amacher

Myosin light chain proteins cooperatively promote sarcomere growth in fast-twitch muscle

This study shows that Mylpf proteins are essential for sarcomere growth in fast-twitch muscle, with their dosage affecting sarcomere formation and myofilament localization.

Validation of Duchenne muscular dystrophy candidate modifiers using a CRISPR-Cas9-based approach in zebrafish

The paper validates new genetic modifiers of Duchenne muscular dystrophy using a zebrafish CRISPR-based screening approach.

The RNA binding proteins Ddx6 and Ddx61 support development in mRNA-decay deficient pnrc2 mutants

The paper shows that Ddx6 and Ddx61 compensate for mRNA decay defects in pnrc2 mutants by regulating translation and poly(A) tail length.

Mutations in MYLPF cause a novel segmental amyoplasia that manifests as distal arthrogryposis

The paper identifies mutations in MYLPF causing segmental amyoplasia with distal arthrogryposis, showing both dominant and recessive inheritance patterns and linking MYLPF impairment to muscle degeneration.

Stop codon-proximal 3′UTR introns in vertebrates can elicit EJC-dependent Nonsense-Mediated mRNA Decay

The paper identifies stop codon-proximal 3′UTR introns as a new class of EJC-regulated NMD targets that influence vertebrate development.