Results 21 to 30 of about 3,423 (190)
Redox Biology, 2021 Muscles of patients with facioscapulohumeral dystrophy (FSHD) are characterized by sporadic DUX4 expression and oxidative stress which is at least partially induced by DUX4 protein. Nevertheless, targeting oxidative stress with antioxidants has a limited
Anna Karpukhina +2 more
exaly +3 more sources
G-quadruplex ligands mediate downregulation of DUX4 expression [PDF]
Nucleic Acids Research, 2020 AbstractAbnormal DUX4 expression in skeletal muscles plays a key role in facioscapulohumeral muscular dystrophy (FSHD) pathogenesis, although the molecular mechanisms regulating DUX4 expression are not fully defined. Using bioinformatic analysis of the genomic DUX4 locus, we have identified a number of putative G-quadruplexes (GQs) forming sequences ...
Linda Popplewell +7 more
core +4 more sources
Control of DUX4 Expression in Facioscapulohumeral Muscular Dystrophy and Cancer
Trends in Molecular Medicine, 2021 DUX4, a gene encoding a transcription factor involved in early embryogenesis, is located within the D4Z4 subtelomeric repeat on chromosome 4q35. In most healthy somatic tissues, DUX4 is heavily repressed by multiple genetic and epigenetic mechanisms, and its aberrant expression is linked to facioscapulohumeral muscular dystrophy (FSHD) where it has ...
Anna Karpukhina +2 more
exaly +4 more sources
Chemical inhibition of SUMOylation activates the FSHD locus [PDF]
Scientific ReportsFacioscapulohumeral muscular dystrophy (FSHD) is a progressive and debilitating muscle disease for which no cure currently exists. In the majority of cases, FSHD is associated with the contraction of the D4Z4 macrosatellite repeat array at the 4q35 locus,
Alice Nordlinger +8 more
doaj +2 more sources
DUX4 at 25: how it emerged from “junk DNA” to become the cause of facioscapulohumeral muscular dystrophy [PDF]
Skeletal MuscleDouble Homeobox 4 (DUX4) is a potent transcription factor encoded by a retrogene mapped in D4Z4 repeated elements on chromosome 4q35. DUX4 has emerged as pivotal in the pathomechanisms of facioscapulohumeral muscular dystrophy (FSHD), a relatively common
Alexandra Belayew +2 more
doaj +2 more sources
DUX4, the rockstar of embryonic genome activation?
The International Journal of Developmental BiologyPeer ...
Nykänen, Sonja, Vuoristo, Sanna
core +5 more sources
Iron supplementation alleviates pathologies in a mouse model of facioscapulohumeral muscular dystrophy [PDF]
The Journal of Clinical InvestigationFacioscapulohumeral muscular dystrophy (FSHD) is a genetic muscle disease caused by ectopic expression of the toxic protein DUX4, resulting in muscle weakness. However, the mechanism by which DUX4 exerts its toxicity remains unclear.
Kodai Nakamura +9 more
doaj +2 more sources
A systemically deliverable lipid-conjugated siRNA targeting DUX4 as an facioscapulohumeral muscular dystrophy therapeutic [PDF]
Molecular Therapy: Methods & Clinical DevelopmentFacioscapulohumeral muscular dystrophy (FSHD) is the third most diagnosed muscular dystrophy. The disease is caused by genetic and epigenetic disruptions that result in misexpression of the germline transcription factor DUX4 in skeletal muscle, leading ...
Katelyn Daman +8 more
doaj +2 more sources
Biomedicines, 2023 Facioscapulohumeral muscular dystrophy (FSHD), one of the most common muscular dystrophies, is caused by an abnormal expression of the DUX4 gene in skeletal muscles, resulting in muscle weakness. In this study, we investigated MT-DUX4-ASO, a novel gapmer
Tetsuhiro Kakimoto +13 more
doaj +1 more source
Current Opinion in Oncology, 2022 Purpose of review CIC-DUX4 sarcoma (CDS) is a high-grade undifferentiated round cells sarcoma that belongs to the undifferentiated round cell sarcomas family. It represents less than one percent of sarcomas, defining a rarest among rare malignancies. It affects young adults, displaying soft tissue mass.
Brahmi, Mehdi +4 more
openaire +3 more sources