Peter S. Zammit

This study shows that Metformin improves muscle differentiation and function in FSHD models by reducing oxidative stress and enhancing metabolic health.

This study identifies mitochondrial respiratory chain dysfunction and reverse electron transfer as key drivers of DUX4-induced toxicity in FSHD, suggesting RET inhibition as a therapeutic target.

This study shows CEBPβ regulates human myoblast proliferation and differentiation, and its altered expression contributes to defective myogenesis in FSHD.

This paper develops a human iPSC-based model of L-CMD to test gene editing strategies for muscle laminopathies, showing partial reversal of disease phenotypes with precise mutation correction.

This paper develops a mathematical model to evaluate anti-DUX4 therapies for FSHD, finding that reducing DUX4 diffusion is more effective than reducing apoptosis, and that combining strategies yields better results.

The paper identifies a circulating transcriptomic biomarker in blood that correlates with FSHD clinical severity and validates it in muscle tissue.

This study shows that Piezo1 regulates myocyte fusion during skeletal myogenesis by modulating Ca2+ influx and Myomaker expression, with implications for muscle diseases.

This study shows that Myogenin regulates adult muscle fibre growth and stem cell homeostasis by affecting myonuclear domain size, MuSC activation, and mTORC1 signaling.

The paper shows that DUX4 and its target genes are expressed in immune cells, not muscle cells, in FSHD muscle biopsies, correlating with inflammation.