Amplifying gene expression with RNA-targeted therapeutics

O Khorkova, J Stahl, A Joji, CH Volmar… - Nature Reviews Drug …, 2023 - nature.com
Many diseases are caused by insufficient expression of mutated genes and would benefit
from increased expression of the corresponding protein. However, in drug development, it …

Dystrophin myonuclear domain restoration governs treatment efficacy in dystrophic muscle

A Morin, A Stantzou, ON Petrova… - Proceedings of the …, 2023 - National Acad Sciences
Dystrophin is essential for muscle health: its sarcolemmal absence causes the fatal, X-linked
condition, Duchenne muscular dystrophy (DMD). However, its normal, spatial organization …

Application of droplet digital PCR technology in muscular dystrophies research

I Lambrescu, A Popa, E Manole, LC Ceafalan… - International Journal of …, 2022 - mdpi.com
Although they are considered rare disorders, muscular dystrophies have a strong impact on
people's health. Increased disease severity with age, frequently accompanied by the loss of …

Voluntary wheel running improves molecular and functional deficits in a murine model of facioscapulohumeral muscular dystrophy

AJ Bittel, DC Bittel, H Gordish-Dressman, YW Chen - Iscience, 2024 - cell.com
Endurance exercise training is beneficial for skeletal muscle health, but it is unclear if this
type of exercise can target or correct the molecular mechanisms of facioscapulohumeral …

Duchenne muscular dystrophy gene therapy

FA Saad, JF Saad, G Siciliano, L Merlini… - Current Gene …, 2024 - ingentaconnect.com
Duchenne and Becker muscular dystrophies are allelic X-linked recessive neuromuscular
diseases affecting both skeletal and cardiac muscles. Therefore, owing to their single X …

How Can Proteomics Help to Elucidate the Pathophysiological Crosstalk in Muscular Dystrophy and Associated Multi-System Dysfunction?

P Dowling, C Trollet, E Negroni, D Swandulla… - Proteomes, 2024 - mdpi.com
This perspective article is concerned with the question of how proteomics, which is a core
technique of systems biology that is deeply embedded in the multi-omics field of modern …

Characterization of the dystrophin‐associated protein complex by mass spectrometry

EH Canessa, R Spathis, JS Novak… - Mass spectrometry …, 2024 - Wiley Online Library
The dystrophin‐associated protein complex (DAPC) is a highly organized multiprotein
complex that plays a pivotal role in muscle fiber structure integrity and cell signaling. The …

[HTML][HTML] Cellular pathogenesis of Duchenne muscular dystrophy: progressive myofibre degeneration, chronic inflammation, reactive myofibrosis and satellite cell …

P Dowling, D Swandulla… - European Journal of …, 2023 - ncbi.nlm.nih.gov
Duchenne muscular dystrophy is a highly progressive muscle wasting disease of early
childhood and characterized by complex pathophysiological and histopathological changes …

When Size Really Matters: The Eccentricities of Dystrophin Transcription and the Hazards of Quantifying mRNA from Very Long Genes

JCW Hildyard, RJ Piercy - Biomedicines, 2023 - mdpi.com
At 2.3 megabases in length, the dystrophin gene is enormous: transcription of a single
mRNA requires approximately 16 h. Principally expressed in skeletal muscle, the dystrophin …

The latest developments in synthetic approaches to duchenne muscular dystrophy

LM Johnson, TG Pulskamp… - Expert Review of …, 2025 - Taylor & Francis
Introduction Duchenne muscular dystrophy (DMD) is a rare X-linked genetic disorder
caused by mutations in the dystrophin gene, leading to an almost complete absence of …