Peter S. Zammit

King's College London — United Kingdom

Biochemistry, Genetics and Molecular Biology · Life Sciences

56h-index14.7kcitations187works1.42yr avg
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Research Topics

Muscle Physiology and Disorders(135), Tissue Engineering and Regenerative Medicine(46), RNA Research and Splicing(33), Cardiomyopathy and Myosin Studies(24), Nuclear Structure and Function(20)

Publications187 total

Biallelic PAX7 variants cause a novel Satellite Cell-opathy with progressive muscle involvement resembling facioscapulohumeral muscular dystrophy
Cell Death and Disease·2026Open Access
Mitochondrial Respiratory Chain Function is crucial for Muscle Toxicity in Facioscapulohumeral Muscular Dystrophy
bioRxiv (Cold Spring Harbor Laboratory)·2025Open Access
56P3D human iPSC-based modelling of laminopathies to develop gene therapy strategies for LMNA-related congenital muscular dystrophy
Neuromuscular Disorders·2025
DUX4 at 25: how it emerged from “junk DNA” to become the cause of facioscapulohumeral muscular dystrophy
Skeletal Muscle·2025· 2 citedOpen Access
CEBPβ regulates myoblast proliferation and myogenic differentiation during human myogenesis and rescues defective differentiation in FSHD
2025Open Access
Advanced human iPSC-based modelling of <i>LMNA</i> -related congenital muscular dystrophy enables development of targeted genetic therapies for muscle laminopathies
2025Open Access
Biallelic <i>PAX7</i> variants cause a novel Satellite Cell-opathy with progressive muscle involvement resembling facioscapulohumeral muscular dystrophy
2025Open Access
Prenatal and progressive coenzyme Q<sub>10</sub> administration to mitigate muscle dysfunction in mitochondrial disease
Journal of Cachexia Sarcopenia and Muscle·2024· 4 citedOpen Access
Quantifying anti-DUX4 therapy for facioscapulohumeral muscular dystrophy
2024Open Access
Transcriptomic gene signatures measure satellite cell activity in muscular dystrophies
iScience·2024· 4 citedOpen Access
The DUX4–HIF1α Axis in Murine and Human Muscle Cells: A Link More Complex Than Expected
International Journal of Molecular Sciences·2024· 4 citedOpen Access
The DUX4-HIF1α Axis in Murine and Human Muscle Cells: A Link More Complex than Expected
Preprints.org·2024· 1 citedOpen Access
Yap/Taz activity is associated with increased expression of phosphoglycerate dehydrogenase that supports myoblast proliferation
Cell and Tissue Research·2024· 3 citedOpen Access
Hypoxia enhances human myoblast differentiation: involvement of HIF1α and impact of DUX4, the FSHD causal gene
Skeletal Muscle·2023· 10 citedOpen Access
FSHD muscle shows perturbation in fibroadipogenic progenitor cells, mitochondrial function and alternative splicing independently of inflammation
Human Molecular Genetics·2023· 14 citedOpen Access
Symptom onset and cellular pathology in facioscapulohumeral muscular dystrophy is accelerated by cigarette smoking
2023Open Access
An in silico FSHD muscle fiber for modeling DUX4 dynamics and predicting the impact of therapy
eLife·2023· 11 citedOpen Access
Author response: An in silico FSHD muscle fiber for modeling DUX4 dynamics and predicting the impact of therapy
2023Open Access
Author Reply to Peer Reviews of An in silico FSHD muscle fibre for modelling DUX4 dynamics and predicting the impact of therapy
2023
Metabolism as modulator of mitochondrial disease
Free Radical Biology and Medicine·2023
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Frequent Co-authors

Terence A. Partridge(12), Jennifer E. Morgan(10), Jonathan R. Beauchamp(7), Frédéric Relaix(6), Christopher R. S. Banerji(6), Yosuke Nagata(5), Robert B. White(5), Paul Knopp(5), Massimo Ganassi(5), Charlotte Collins(4), Louise A. Heslop(4), Shahragim Tajbakhsh(4), Margaret Buckingham(4), Viola F. Gnocchi(4), Luisa Boldrin(4), Henning Wackerhage(4), Ana Pérez Ruiz(3), Helge Amthor(3), Francesco Muntoni(3), Louise A. Moyle(3)