Kathryn N. North

This study uses iPSC-derived muscle models to show that DUX4 base editing improves muscle function in childhood-onset FSHD.

This study shows that alpha-actinin-3 deficiency improves cold tolerance through enhanced mitochondrial function and reduced muscle mass loss during acute cold exposure.

This study shows that ACTN3 genotype affects androgen response in skeletal muscle by altering AR expression and pathways related to muscle homeostasis.

This paper refines a radiolabelled assay for measuring glycogen phosphorylase activity in skeletal muscle, revealing sex-specific variations and improving assay reliability across mouse strains.

The study shows that loss of α-actinin-3 in aged mdx dystrophic mice reduces fibre branching and protects against eccentric contraction damage.

The paper shows that absence of α-actinin-3 in humans improves cold resilience through changes in skeletal muscle thermogenesis and myosin heavy chain composition.

This study shows that ACTN3 genotype affects skeletal muscle mass regulation and response to dexamethasone, with -actinin-3 deficiency reducing atrophy signaling and protecting against muscle wasting in female mice.

Transcriptome sequencing improves the diagnostic rate for Mendelian disease in patients for whom genetic analysis has not returned a diagnosis.