Chrystal F. Tiong

Targeted DUX4 base editing improves muscle function in an iPSC-derived model of childhood-onset FSHD

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

Mdx mice dosed with antisense to CD49d and dystrophin exon skip morpholino; reduced force loss and affected gene expression pathways support ATL1102 combination therapy in DMD patients

This study shows that combining ASO targeting CD49d with PMO exon skipping improves muscle function and modulates gene expression in mdx mice, supporting ATL1102 combination therapy for DMD.

alpha-Actinin-3 deficiency protects from the effects of acute cold exposure through altered skeletal muscle Ca2+ and OXPHOS signaling.

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

ACTN3 genotype influences androgen response in skeletal muscle

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

Loss of α-actinin-3 during human evolution provides superior cold resilience and muscle heat generation

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.

ACTN3 genotype influences skeletal muscle mass regulation and response to dexamethasone

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.