Pathomechanisms and biomarkers in facioscapulohumeral muscular dystrophy: roles of DUX4 and PAX7
Author:
Affiliation:
1. Randall Centre for Cell and Molecular Biophysics King's College London London UK
Funder
Muscular Dystrophy UK
Publisher
EMBO
Subject
Molecular Medicine
Link
https://onlinelibrary.wiley.com/doi/pdf/10.15252/emmm.202013695
Reference221 articles.
1. DUX4c Is Up-Regulated in FSHD. It Induces the MYF5 Protein and Human Myoblast Proliferation
2. Inflammatory response in facioscapulohumeral muscular dystrophy (FSHD): Immunocytochemical and genetic analyses
3. Prepubertal skeletal muscle growth requires Pax7-expressing satellite cell-derived myonuclear contribution
4. Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb–MyoD pathways in muscle regeneration
5. Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4
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1. Voluntary wheel running improves molecular and functional deficits in a murine model of facioscapulohumeral muscular dystrophy;iScience;2024-01
2. Hypoxia enhances human myoblast differentiation: involvement of HIF1α and impact of DUX4, the FSHD causal gene;Skeletal Muscle;2023-12-16
3. FSHD muscle shows perturbation in fibroadipogenic progenitor cells, mitochondrial function and alternative splicing independently of inflammation;Human Molecular Genetics;2023-10-19
4. Pharmacotherapeutic Approaches to Treatment of Muscular Dystrophies;Biomolecules;2023-10-17
5. Apabetalone, a Clinical-Stage, Selective BET Inhibitor, Opposes DUX4 Target Gene Expression in Primary Human FSHD Muscle Cells;Biomedicines;2023-09-30
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