Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy

A Greco, R Goossens, B Van Engelen… - Clinical …, 2020 - Wiley Online Library
Facioscapulohumeral muscular dystrophy (FSHD), a common hereditary myopathy, is
caused either by the contraction of the D4Z4 macrosatellite repeat at the distal end of …

Influence of DUX4 Expression in Facioscapulohumeral Muscular Dystrophy and Possible Treatments

E Duranti, C Villa - International Journal of Molecular Sciences, 2023 - mdpi.com
Facioscapulohumeral muscular dystrophy (FSHD) represents the third most common form of
muscular dystrophy and is characterized by muscle weakness and atrophy. FSHD is caused …

Human miRNA miR-675 inhibits DUX4 expression and may be exploited as a potential treatment for Facioscapulohumeral muscular dystrophy

NY Saad, M Al-Kharsan, SE Garwick-Coppens… - Nature …, 2021 - nature.com
Facioscapulohumeral muscular dystrophy (FSHD) is a potentially devastating myopathy
caused by de-repression of the DUX4 gene in skeletal muscles. Effective therapies will likely …

Dynamic transcriptomic analysis reveals suppression of PGC1 α/ERR α drives perturbed myogenesis in facioscapulohumeral muscular dystrophy

CRS Banerji, M Panamarova, J Pruller… - Human molecular …, 2019 - academic.oup.com
Facioscapulohumeral muscular dystrophy (FSHD) is a prevalent, incurable myopathy, linked
to epigenetic derepression of D4Z4 repeats on chromosome 4q, leading to ectopic DUX4 …

Antagonism between DUX4 and DUX4c highlights a pathomechanism operating through β-catenin in facioscapulohumeral muscular dystrophy

M Ganassi, N Figeac, M Reynaud… - Frontiers in cell and …, 2022 - frontiersin.org
Aberrant expression of the transcription factor DUX4 from D4Z4 macrosatellite repeats on
chromosome 4q35, and its transcriptome, associate with pathogenesis in …

Low level DUX4 expression disrupts myogenesis through deregulation of myogenic gene expression

D Bosnakovski, MD Gearhart, EA Toso, ET Ener… - Scientific reports, 2018 - nature.com
Loss of silencing of the DUX4 gene on chromosome 4 causes facioscapulohumeral
muscular dystrophy. While high level DUX4 expression induces apoptosis, the effects of low …

ANT1 overexpression models: Some similarities with facioscapulohumeral muscular dystrophy

S Arbogast, H Kotzur, C Frank, N Compagnone, T Sutra… - Redox Biology, 2022 - Elsevier
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder
characterized by progressive muscle weakness. Adenine nucleotide translocator 1 (ANT1) …

Identification of the hyaluronic acid pathway as a therapeutic target for facioscapulohumeral muscular dystrophy

AM DeSimone, J Leszyk, KR Wagner… - Science …, 2019 - science.org
Facioscapulohumeral muscular dystrophy (FSHD) is linked to epigenetic derepression of the
germline/embryonic transcription factor DUX4 in skeletal muscle. However, the etiology of …

[HTML][HTML] Systemic delivery of a DUX4-targeting antisense oligonucleotide to treat facioscapulohumeral muscular dystrophy

LF Bouwman, B den Hamer, A van den Heuvel… - … Therapy-Nucleic Acids, 2021 - cell.com
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most prevalent skeletal
muscle dystrophies. Skeletal muscle pathology in individuals with FSHD is caused by …

Genome wide analysis of gene expression changes in skin from patients with type 2 diabetes

E Takematsu, A Spencer, J Auster, PC Chen… - PLoS …, 2020 - journals.plos.org
Non-healing chronic ulcers are a serious complication of diabetes and are a major
healthcare problem. While a host of treatments have been explored to heal or prevent these …