Facioscapulohumeral muscular dystrophy: the road to targeted therapies

MS Tihaya, K Mul, J Balog, JC de Greef… - Nature Reviews …, 2023 - nature.com
Advances in the molecular understanding of facioscapulohumeral muscular dystrophy
(FSHD) have revealed that FSHD results from epigenetic de-repression of the DUX4 gene in …

Mobility related physical and functional losses due to aging and disease-a motivation for lower limb exoskeletons

M Grimmer, R Riener, CJ Walsh, A Seyfarth - Journal of neuroengineering …, 2019 - Springer
Background Physical and functional losses due to aging and diseases decrease human
mobility, independence, and quality of life. This study is aimed at summarizing and …

Conservation and innovation in the DUX4-family gene network

JL Whiddon, AT Langford, CJ Wong, JW Zhong… - Nature …, 2017 - nature.com
Abstract Facioscapulohumeral dystrophy (FSHD; MIM 158900, MIM 158901) is caused by
misexpression of the DUX4 transcription factor in skeletal muscle. Animal models of FSHD …

Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): a randomised, double-blind, placebo-controlled phase 2b trial

R Tawil, KR Wagner, JI Hamel, DG Leung… - The Lancet …, 2024 - thelancet.com
Background Facioscapulohumeral muscular dystrophy is a hereditary progressive myopathy
caused by aberrant expression of the transcription factor DUX4 in skeletal muscle. No …

Endogenous DUX4 expression in FSHD myotubes is sufficient to cause cell death and disrupts RNA splicing and cell migration pathways

AM Rickard, LM Petek, DG Miller - Human molecular genetics, 2015 - academic.oup.com
Facioscapulohumeral muscular dystrophy (FSHD) is caused by chromatin relaxation that
results in aberrant expression of the transcription factor Double Homeobox 4 (DUX4). DUX4 …

DUX4 role in normal physiology and in FSHD muscular dystrophy

E Mocciaro, V Runfola, P Ghezzi, M Pannese… - Cells, 2021 - mdpi.com
In the last decade, the sequence-specific transcription factor double homeobox 4 (DUX4)
has gone from being an obscure entity to being a key factor in important physiological and …

Long-read sequencing for rare human genetic diseases

S Mitsuhashi, N Matsumoto - Journal of Human Genetics, 2020 - nature.com
During the past decade, the search for pathogenic mutations in rare human genetic
diseases has involved huge efforts to sequence coding regions, or the entire genome, using …

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2

RJLF Lemmers, JJ Goeman… - Human molecular …, 2015 - academic.oup.com
Facioscapulohumeral muscular dystrophy (FSHD: MIM# 158900) is a common myopathy
with marked but largely unexplained clinical inter-and intra-familial variability. It is caused by …

[HTML][HTML] Facioscapulohumeral muscular dystrophy: update on pathogenesis and future treatments

J Hamel, R Tawil - Neurotherapeutics, 2018 - Elsevier
A reliable model of a disease pathomechanism is the first step to develop targeted treatment.
In facioscapulohumeral muscular dystrophy (FSHD), the third most common muscular …

MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD

LH Wang, SD Friedman, D Shaw… - Human Molecular …, 2019 - academic.oup.com
Facioscapulohumeral muscular dystrophy (FSHD) is a common, dominantly inherited
disease caused by the epigenetic de-repression of the DUX4 gene, a transcription factor …