Muscle pathology from stochastic low level DUX4 expression in an FSHD mouse model

Autor: Darko Bosnakovski, Sunny S. K. Chan, Olivia O. Recht, Lynn M. Hartweck, Collin J. Gustafson, Laura L. Athman, Dawn A. Lowe, Michael Kyba
Jazyk: angličtina
Rok vydání: 2017
Předmět:
Zdroj: Nature Communications, Vol 8, Iss 1, Pp 1-9 (2017)
Druh dokumentu: article
ISSN: 2041-1723
DOI: 10.1038/s41467-017-00730-1
Popis: Facioscapulohumeral muscular dystrophy is a severe myopathy that is caused by abnormal activation of DUX4, and for which a suitable mouse model does not exist. Here, the authors generate a novel mouse model with titratable expression of DUX4, and show that it recapitulates several features of the human pathology.
Databáze: Directory of Open Access Journals