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 …

Striated muscle function, regeneration, and repair

IY Shadrin, A Khodabukus, N Bursac - Cellular and molecular life sciences, 2016 - Springer
As the only striated muscle tissues in the body, skeletal and cardiac muscle share numerous
structural and functional characteristics, while exhibiting vastly different size and …

[HTML][HTML] AAV-mediated follistatin gene therapy improves functional outcomes in the TIC-DUX4 mouse model of FSHD

CR Giesige, LM Wallace, KN Heller, JO Eidahl… - JCI insight, 2018 - ncbi.nlm.nih.gov
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant or digenic
disorder linked to derepression of the toxic DUX4 gene in muscle. There is currently no …

Clinically advanced p38 inhibitors suppress DUX4 expression in cellular and animal models of facioscapulohumeral muscular dystrophy

J Oliva, S Galasinski, A Richey, AE Campbell… - … of Pharmacology and …, 2019 - ASPET
Facioscapulohumeral muscular dystrophy (FSHD) is characterized by misexpression of the
double homeobox 4 (DUX4) developmental transcription factor in mature skeletal muscle …

Targeted epigenetic repression by CRISPR/dSaCas9 suppresses pathogenic DUX4-fl expression in FSHD

CL Himeda, TI Jones, PL Jones - Molecular Therapy-Methods & Clinical …, 2021 - cell.com
Facioscapulohumeral muscular dystrophy (FSHD) is caused by incomplete silencing of the
disease locus, leading to pathogenic misexpression of DUX4 in skeletal muscle. Previously …

Mouse models for muscular dystrophies: an overview

M van Putten, EM Lloyd, JC de Greef… - Disease models & …, 2020 - journals.biologists.com
Muscular dystrophies (MDs) encompass a wide variety of inherited disorders that are
characterized by loss of muscle tissue associated with a progressive reduction in muscle …

Therapeutic strategies targeting DUX4 in FSHD

L Le Gall, E Sidlauskaite, V Mariot… - Journal of Clinical …, 2020 - mdpi.com
Facioscapulohumeral muscular dystrophy (FSHD) is a common muscle dystrophy typically
affecting patients within their second decade. Patients initially exhibit asymmetric facial and …

The C2 domains of dysferlin: roles in membrane localization, Ca2+ signalling and sarcolemmal repair

J Muriel, V Lukyanenko, T Kwiatkowski… - The Journal of …, 2022 - Wiley Online Library
Dysferlin is an integral membrane protein of the transverse tubules of skeletal muscle that is
mutated or absent in limb girdle muscular dystrophy 2B and Miyoshi myopathy. Here we …

Human DUX4 and porcine DUXC activate similar early embryonic programs in pig muscle cells: implications for preclinical models of FSHD

Y Nip, SR Bennett, AA Smith, TI Jones… - Human Molecular …, 2023 - academic.oup.com
Human DUX4 and its mouse ortholog Dux are normally expressed in the early embryo—the
4-cell or 2-cell cleavage stage embryo, respectively—and activate a portion of the first wave …

Optimization of xenografting methods for generating human skeletal muscle in mice

A O'Neill, AL Martinez, AL Mueller… - Cell …, 2024 - journals.sagepub.com
Xenografts of human skeletal muscle generated in mice can be used to study muscle
pathology and to test drugs designed to treat myopathies and muscular dystrophies for their …