A proteomics study identifying interactors of the FSHD2 gene product SMCHD1 reveals RUVBL1-dependent DUX4 repression

Structural Maintenance of Chromosomes Hinge Domain Containing 1 (SMCHD1) is a chromatin repressor, which is mutated in > 95% of Facioscapulohumeral dystrophy (FSHD) type 2 cases. In FSHD2, SMCHD1 mutations ultimately result in the presence of the cleavage stage transcription factor DUX4 in muscle...

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Detalles Bibliográficos
Autores principales: Goossens, Remko, Tihaya, Mara S., van den Heuvel, Anita, Tabot-Ndip, Klorane, Willemsen, Iris M., Tapscott, Stephen J., González-Prieto, Román, Chang, Jer-Gung, Vertegaal, Alfred C. O., Balog, Judit, van der Maarel, Silvère M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8654949/
https://www.ncbi.nlm.nih.gov/pubmed/34880314
http://dx.doi.org/10.1038/s41598-021-03030-3

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