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 …

Pathomechanisms and biomarkers in facioscapulohumeral muscular dystrophy: roles of DUX4 and PAX7

CRS Banerji, PS Zammit - EMBO molecular medicine, 2021 - embopress.org
Facioscapulohumeral muscular dystrophy (FSHD) is characterised by progressive skeletal
muscle weakness and wasting. FSHD is linked to epigenetic derepression of the …

[HTML][HTML] Interplay between mitochondrial reactive oxygen species, oxidative stress and hypoxic adaptation in facioscapulohumeral muscular dystrophy: Metabolic …

P Heher, M Ganassi, A Weidinger, EN Engquist… - Redox biology, 2022 - Elsevier
Facioscapulohumeral muscular dystrophy (FSHD) is characterised by descending skeletal
muscle weakness and wasting. FSHD is caused by mis-expression of the transcription factor …

Facioscapulohumeral muscular dystrophy: genetics, gene activation and downstream signalling with regard to recent therapeutic approaches: an update

T Schätzl, L Kaiser, HP Deigner - Orphanet Journal of Rare Diseases, 2021 - Springer
Whilst a disease-modifying treatment for Facioscapulohumeral muscular dystrophy (FSHD)
does not exist currently, recent advances in complex molecular pathophysiology studies of …

Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy

H Erdmann, F Scharf, S Gehling, A Benet-Pagès… - Brain, 2023 - academic.oup.com
Genetic diagnosis of facioscapulohumeral muscular dystrophy (FSHD) remains a challenge
in clinical practice as it cannot be detected by standard sequencing methods despite being …

Deciphering D4Z4 CpG methylation gradients in fascioscapulohumeral muscular dystrophy using nanopore sequencing

RJ Butterfield, DM Dunn, B Duval, S Moldt… - Genome …, 2023 - genome.cshlp.org
Fascioscapulohumeral muscular dystrophy (FSHD) is caused by a unique genetic
mechanism that relies on contraction and hypomethylation of the D4Z4 macrosatellite array …

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 …

Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing

Y Hiramuki, Y Kure, Y Saito, M Ogawa… - Journal of Translational …, 2022 - Springer
Background Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant
muscular disorder characterized by asymmetric muscle wasting and weakness. FSHD can …

Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy

RJLF Lemmers, R Butterfield, PJ van der Vliet… - Brain, 2024 - academic.oup.com
Facioscapulohumeral dystrophy (FSHD) has a unique genetic aetiology resulting in partial
chromatin relaxation of the D4Z4 macrosatellite repeat array on 4qter. This D4Z4 chromatin …

Current therapeutic approaches in FSHD

LH Wang, R Tawil - Journal of Neuromuscular Diseases, 2021 - content.iospress.com
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular
dystrophies. Over the last decade, a consensus was reached regarding the underlying …