Results 21 to 30 of about 5,232 (224)

Iron supplementation alleviates pathologies in a mouse model of facioscapulohumeral muscular dystrophy [PDF]

The Journal of Clinical Investigation
Facioscapulohumeral 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, Huascar Pedro Ortuste Quiroga, Naoki Horii, Shin Fujimaki, Toshiro Moroishi, Keiichi I. Nakayama, Shinjiro Hino, Yoshihiko Saito, Ichizo Nishino, Yusuke Ono   +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 Development
Facioscapulohumeral 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, Jing Yan, Annabelle Biscans, Dimas Echeverria, Taisia Shmushkovich, Alexey Wolfson, Julia F. Alterman, Anastasia Khvorova, Charles P. Emerson, Jr.   +8 more
doaj   +2 more sources

DUX4-induced HSATII RNA accumulation drives protein aggregation, impacting RNA processing pathways. [PDF]

J Cell Biol
Arends T, Bennett SR, Tapscott SJ.
europepmc   +3 more sources

A dedicated caller for DUX4 rearrangements from whole-genome sequencing data [PDF]

BMC Medical Genomics
Rearrangements involving the DUX4 gene (DUX4-r) define a subtype of paediatric and adult acute lymphoblastic leukaemia (ALL) with a favourable outcome. Currently, there is no ‘standard of care’ diagnostic method for their confident identification.
Pascal Grobecker, Stefano Berri, John F. Peden, Kai-Jie Chow, Claire Fielding, Ivana Armogida, Helen Northen, David J. McBride, Peter J. Campbell, Jennifer Becq, Sarra L. Ryan, David R. Bentley, Christine J. Harrison, Anthony V. Moorman, Mark T. Ross, Martina Mijuskovic   +15 more
doaj   +2 more sources

Inactivation of the CIC-DUX4 oncogene through P300/CBP inhibition, a therapeutic approach for CIC-DUX4 sarcoma [PDF]

Oncogenesis, 2021
AbstractCIC-DUX4 sarcoma (CDS) is a highly aggressive and metastatic small round type of predominantly pediatric sarcoma driven by a fusion oncoprotein comprising the transcriptional repressor Capicua (CIC) fused to the C-terminal transcriptional activation domain of DUX4.
Darko Bosnakovski, Elizabeth T. Ener, Mark S. Cooper, Micah D. Gearhart, Kevin A. Knights, Natalie Xu, Christian A. Palumbo, Erik A. Toso, Graham P. Marsh, Hannah J. Maple, Michael Kyba   +10 more
openalex   +4 more sources

DNA-binding sequence specificity of DUX4 [PDF]

Skeletal Muscle, 2015
Misexpression of the double homeodomain transcription factor DUX4 results in facioscapulohumeral muscular dystrophy (FSHD). A DNA-binding consensus with two tandem TAAT motifs based on chromatin IP peaks has been discovered; however, the consensus has multiple variations (flavors) of unknown relative activity.
Erik A. Toso, Hideki Aihara, John K. Lee, Joslynn S. Lee, Matthew Slattery, Michael Kyba, Si Ho Choi, Yu Zhang   +7 more
core   +4 more sources

A Systemically Administered Unconjugated Antisense Oligonucleotide Targeting DUX4 Improves Muscular Injury and Motor Function in FSHD Model Mice

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, Akira Ogasawara, Kiyoshi Ishikawa, Takashi Kurita, Kumiko Yoshida, Shuichi Harada, Taeko Nonaka, Yoshimi Inoue, Keiko Uchida, Takashi Tateoka, Tetsuya Ohta, Shinji Kumagai, Takashi Sasaki, Hajime Aihara   +13 more
doaj   +1 more source

CIC-DUX4 sarcomas

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, Vanacker, Helene, Macagno, Nicolas, Tirode, Franck, Dufresne, Armelle   +4 more
openaire   +3 more sources

An in silico FSHD muscle fiber for modeling DUX4 dynamics and predicting the impact of therapy

eLife, 2023
Facioscapulohumeral muscular dystrophy (FSHD) is an incurable myopathy linked to the over-expression of the myotoxic transcription factor DUX4. Targeting DUX4 is the leading therapeutic approach, however, it is only detectable in 0.1–3.8% of FSHD ...
Matthew V Cowley, Johanna Pruller, Massimo Ganassi, Peter S Zammit, Christopher RS Banerji   +4 more
doaj   +1 more source

Therapeutic Strategies Targeting DUX4 in FSHD [PDF]

Journal of Clinical Medicine, 2020
Facioscapulohumeral muscular dystrophy (FSHD) is a common muscle dystrophy typically affecting patients within their second decade. Patients initially exhibit asymmetric facial and humeral muscle damage, followed by lower body muscle involvement. FSHD is associated with a derepression of DUX4 gene encoded by the D4Z4 macrosatellite located on the ...
Laura Le Gall, Eva Sidlauskaite, Virginie Mariot, Julie Dumonceaux   +3 more
openaire   +3 more sources