Emerging preclinical animal models for FSHD
Wellstone Program; Department of Neurology; Department of Cell and Developmental Biology; Wellstone Center for FSHD
Cell Biology | Developmental Biology | Molecular Biology | Molecular Genetics | Musculoskeletal Diseases | Nervous System Diseases
Facioscapulohumeral dystrophy (FSHD) is a unique and complex genetic disease that is not entirely solved. Recent advances in the field have led to a consensus genetic premise for the disorder, enabling researchers to now pursue the design of preclinical models. In this review we explore all available FSHD models (DUX4-dependent and -independent) for their utility in therapeutic discovery and potential to yield novel disease insights. Owing to the complex nature of FSHD, there is currently no single model that accurately recapitulates the genetic and pathophysiological spectrum of the disorder. Existing models emphasize only specific aspects of the disease, highlighting the need for more collaborative research and novel paradigms to advance the translational research space of FSHD.
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Citation: Lek A, Rahimov F, Jones PL, Kunkel LM. Emerging preclinical animal models for FSHD. Trends Mol Med. 2015 May;21(5):295-306. doi: 10.1016/j.molmed.2015.02.011. Epub 2015 Mar 20. Review. PubMed PMID: 25801126; PubMed Central PMCID: PMC4424175. Link to article on publisher's website
Lek, Angela; Rahimov, Fedik; Jones, Peter L.; and Kunkel, Louis M., "Emerging preclinical animal models for FSHD" (2015). Peter Jones Lab Publications. 24.