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Therapeutic Strategies Targeting DUX4 in FSHD [PDF]
Journal of Clinical Medicine, 2020 Facioscapulohumeral muscular dystrophy (FSHD) is a common muscle dystrophy typically affecting patients within their second decade. Patients initially exhibit asymmetric facial and humeral muscle damage, followed by lower body muscle involvement. FSHD is associated with a derepression of DUX4 gene encoded by the D4Z4 macrosatellite located on the ...
Laura Le Gall +2 more
exaly +9 more sources
Update on the Molecular Aspects and Methods Underlying the Complex Architecture of FSHD
Cells, 2022 Despite the knowledge of the main mechanisms involved in facioscapulohumeral muscular dystrophy (FSHD), the high heterogeneity and variable penetrance of the disease complicate the diagnosis, characterization and genotype–phenotype correlation of ...
Raffaella Cascella +2 more
exaly +3 more sources
JMIR Formative Research, 2022 BackgroundFacioscapulohumeral dystrophy (FSHD) is a progressive muscle dystrophy disorder leading to significant disability. Currently, FSHD symptom severity is assessed by clinical assessments such as the FSHD clinical score and ...
Ghobad Maleki +8 more
doaj +1 more source
An in silico FSHD muscle fiber for modeling DUX4 dynamics and predicting the impact of therapy
eLife, 2023 Facioscapulohumeral muscular dystrophy (FSHD) is an incurable myopathy linked to the over-expression of the myotoxic transcription factor DUX4. Targeting DUX4 is the leading therapeutic approach, however, it is only detectable in 0.1–3.8% of FSHD ...
Matthew V Cowley +4 more
doaj +1 more source
Baroreflex sensitivity in facioscapulohumeral muscular dystrophy
Physiological Reports, 2022 Facioscapulohumeral muscular dystrophy (FSHD), a common form of muscular dystrophy, is caused by a genetic mutation that alters DUX4 gene expression. This mutation contributes to significant skeletal muscle loss.
Miguel Anselmo +7 more
doaj +1 more source
Disease Models & Mechanisms, 2021 Facioscapulohumeral muscular dystrophy (FSHD) is caused by misexpression of DUX4 in skeletal myocytes. As DUX4 is the key therapeutic target in FSHD, surrogate biomarkers of DUX4 expression in skeletal muscle are critically needed for clinical trials ...
Andreia M. Nunes +3 more
doaj +1 more source
Cells, 2022 The study describes a protocol for methylation analysis integrated with Machine Learning (ML) algorithms developed to classify Facio-Scapulo-Humeral Dystrophy (FSHD) subjects.
Valerio Caputo +13 more
doaj +1 more source
Diagnostics, 2021 The true prevalence of facioscapulohumeral muscular dystrophy (FSHD) is unknown due to difficulties with accurate clinical evaluation and the complexities of current genetic diagnostics.
Taylor Gould +2 more
doaj +1 more source
Sarcopenic Obesity in Facioscapulohumeral Muscular Dystrophy
Frontiers in Physiology, 2020 BackgroundSarcopenic obesity has been observed in people with neuromuscular impairment, and is linked to adverse health outcomes. It is unclear, however, if sarcopenic obesity develops in adults with facioscapulohumeral muscular dystrophy (FSHD ...
Kathryn A. Vera +5 more
doaj +1 more source