A distal auxiliary element facilitates cleavage and polyadenylation of Dux4 mRNA in the pathogenic haplotype of FSHD
Author:
Funder
Friends of FSH
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/article/10.1007/s00439-017-1813-8/fulltext.html
Reference39 articles.
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3. Bennett CL, Brunkow ME, Ramsdell F, O’Briant KC, Zhu Q, Fuleihan RL, Shigeoka AO, Ochs HD, Chance PF (2001) A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA–>AAUGAA) leads to the IPEX syndrome. Immunogenetics 53:435–439. doi: 10.1007/s002510100358
4. Bonano VI, Oltean S, Garcia-Blanco MA (2007) A protocol for imaging alternative splicing regulation in vivo using fluorescence reporters in transgenic mice. Nat Protoc 2:2166–2181. doi: 10.1038/nprot.2007.292
5. Bosnakovski D, Xu Z, Gang EJ, Galindo CL, Liu M, Simsek T, Garner HR, Agha-Mohammadi S, Tassin A, Coppee F, Belayew A, Perlingeiro RR, Kyba M (2008) An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies. EMBO J 27:2766–2779. doi: 10.1038/emboj.2008.201
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1. The evolution of DUX4 gene regulation and its implication for facioscapulohumeral muscular dystrophy;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2022-05
2. Current Therapeutic Approaches in FSHD;Journal of Neuromuscular Diseases;2021-05-13
3. Systemic antisense therapeutics inhibiting DUX4 expression ameliorates FSHD-like pathology in an FSHD mouse model;Human Molecular Genetics;2021-05-13
4. Systemic antisense therapeutics inhibiting DUX4 expression improves muscle function in an FSHD mouse model;2021-01-16
5. Transgenic mice expressing tunable levels of DUX4 develop characteristic facioscapulohumeral muscular dystrophy-like pathophysiology ranging in severity;Skeletal Muscle;2020-04-11
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