Antagonism Between DUX4 and DUX4c Highlights a Pathomechanism Operating Through β-Catenin in Facioscapulohumeral Muscular Dystrophy

Autor: Massimo Ganassi, Nicolas Figeac, Magalie Reynaud, Huascar Pedro Ortuste Quiroga, Peter S. Zammit

Publikováno v: Frontiers in Cell and Developmental Biology, Vol 10 (2022)

Aberrant expression of the transcription factor DUX4 from D4Z4 macrosatellite repeats on chromosome 4q35, and its transcriptome, associate with pathogenesis in facioscapulohumeral muscular dystrophy (FSHD). Forced DUX4 expression halts skeletal muscl

Externí odkaz: https://doaj.org/article/d618f67ff84c422aa903b80eacc2653a

DUX4 induces a transcriptome more characteristic of a less-differentiated cell state and inhibits myogenesis

Autor: Louise A. Moyle, Christopher R. S. Banerji, Silvère M. van der Maarel, Paul Knopp, Maryna Panamarova, Bianca den Hamer, Peter S. Zammit, Yvonne D. Krom

Publikováno v: Journal of Cell Science, 129(20), 3816-3831
Journal of Cell Science
Knopp, P, Krom, Y D, Banerji, C R S, Panamarova, M, Moyle, L A, den Hamer, B, van der Maarel, S M & Zammit, P S 2016, ' DUX4 induces a transcriptome more characteristic of a less-differentiated cell state and inhibits myogenesis ', Journal of Cell Science, vol. 129, no. 20, pp. 3816-3831 . https://doi.org/10.1242/jcs.180372

Skeletal muscle wasting in facioscapulohumeral muscular dystrophy (FSHD) results in substantial morbidity. On a disease-permissive chromosome 4qA haplotype, genomic and/or epigenetic changes at the D4Z4 macrosatellite repeat allows transcription of t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7527185b6db1c69f8b1bbaa2e249197
http://hdl.handle.net/1887/113797

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