DUX4 partnership
نویسندگان
چکیده
منابع مشابه
p53-independent DUX4 pathology
FSHD is a genetically dominant myopathy caused by mutations that disrupt repression of the normally silent DUX4 gene, which encodes a transcription factor that has been shown to interfere with myogenesis when misexpressed at very low levels in myoblasts, and to cause cell death when overexpressed at high levels. A previous report using adeno-associated virus to deliver high levels of DUX4 to mo...
متن کاملDUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles.
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most prevalent adult muscular dystrophies. The common clinical signs usually appear during the second decade of life but when the first molecular dysregulations occur is still unknown. Our aim was to determine whether molecular dysregulations can be identified during FSHD fetal muscle development. We compared muscle biopsies derived fr...
متن کاملFacioscapulohumeral muscular dystrophy and DUX4: breaking
Autosomal dominant facioscapulohumeral muscular dystrophy (FSHDI has an unusual pathogenic mecha nism. FSHD is caused by deletion of a subset of D4Z4 macrosatellite repeat units in the subtelomere of chro mosome 4q. Recent studies provide compelling evi dence that a retrotransposed gene in the D4Z4 repeat, DUX4, is expressed in the human germline and then epigenetically silenced in somatie t...
متن کاملExpression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy.
Facioscapulohumeral muscular dystrophy (FSHD) is a common form of muscular dystrophy characterized by an asymmetric progressive weakness and wasting of the facial, shoulder and upper arm muscles, frequently accompanied by hearing loss and retinal vasculopathy. FSHD is an autosomal dominant disease linked to chromosome 4q35, but the causative gene remains controversial. DUX4 is a leading candida...
متن کاملMorpholino-mediated Knockdown of DUX4 Toward Facioscapulohumeral Muscular Dystrophy Therapeutics
Derepression of DUX4 in skeletal muscle has emerged as a likely cause of pathology in facioscapulohumeral muscular dystrophy (FSHD). Here we report on the use of antisense phosphorodiamidate morpholino oligonucleotides to suppress DUX4 expression and function in FSHD myotubes and xenografts. The most effective was phosphorodiamidate morpholino oligonucleotide FM10, which targets the polyadenyla...
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ژورنال
عنوان ژورنال: Science-Business eXchange
سال: 2013
ISSN: 1945-3477
DOI: 10.1038/scibx.2013.2