Complexity of skeletal muscle degeneration: Multi-systems pathophysiology and organ crosstalk in dystrophinopathy

K Ohlendieck, D Swandulla - Pflügers Archiv-European Journal of …, 2021 - Springer
Duchenne muscular dystrophy is a highly progressive muscle wasting disorder due to
primary abnormalities in one of the largest genes in the human genome, the DMD gene …

The dystrophin node as integrator of cytoskeletal organization, lateral force transmission, fiber stability and cellular signaling in skeletal muscle

P Dowling, S Gargan, S Murphy, M Zweyer, H Sabir… - Proteomes, 2021 - mdpi.com
The systematic bioanalytical characterization of the protein product of the DMD gene, which
is defective in the pediatric disorder Duchenne muscular dystrophy, led to the discovery of …

[HTML][HTML] Brain Dp140 alters glutamatergic transmission and social behaviour in the mdx52 mouse model of Duchenne muscular dystrophy

Y Hashimoto, H Kuniishi, K Sakai, Y Fukushima… - Progress in …, 2022 - Elsevier
Duchenne muscular dystrophy (DMD) is a muscle disorder caused by DMD mutations and is
characterized by neurobehavioural comorbidities due to dystrophin deficiency in the brain …

Tissue-and cell-specific whole-transcriptome meta-analysis from brain and retina reveals differential expression of dystrophin complexes and new dystrophin spliced …

C García-Cruz, J Aragón, S Lourdel… - Human Molecular …, 2023 - academic.oup.com
The large DMD gene encodes a group of dystrophin proteins in brain and retina, produced
from multiple promoters and alternative splicing events. Dystrophins are core components of …

[HTML][HTML] Synaptic alterations as a neurodevelopmental trait of Duchenne muscular dystrophy

ME De Stefano, V Ferretti, C Mozzetta - Neurobiology of Disease, 2022 - Elsevier
Dystrophinopaties, eg, Duchenne muscular dystrophy (DMD), Becker muscular dystrophy
and X-linked dilated cardiomyopathy are inherited neuromuscular diseases, characterized …

Emotional behavior and brain anatomy of the mdx52 mouse model of Duchenne muscular dystrophy

A Saoudi, F Zarrouki, C Sebrié… - Disease models & …, 2021 - journals.biologists.com
ABSTRACT The exon-52-deleted mdx52 mouse is a critical model of Duchenne muscular
dystrophy (DMD), as it features a deletion in a hotspot region of the DMD gene, frequently …

[HTML][HTML] Dystrophin deficiency impairs cell junction formation during embryonic myogenesis from pluripotent stem cells

E Mozin, E Massouridès, V Mournetas, C Lièvre… - Iscience, 2024 - cell.com
Mutations in the DMD gene lead to Duchenne muscular dystrophy (DMD), a severe
neuromuscular disorder affecting young boys as they acquire motor functions. DMD is …

[HTML][HTML] Retinal dystrophins and the retinopathy of Duchenne muscular dystrophy

MTS Barboni, A Joachimsthaler, MJ Roux… - Progress in Retinal and …, 2023 - Elsevier
Duchenne muscular dystrophy (DMD) is caused by X-linked inherited or de novo DMD gene
mutations predominantly affecting males who develop early-onset muscle degeneration …

Expression of Dystrophin Dp71 Splice Variants Is Temporally Regulated During Rodent Brain Development

M González-Reyes, J Aragón, A Sánchez-Trujillo… - Molecular …, 2024 - Springer
Dystrophin Dp71 is the major product of the Duchenne muscular dystrophy (DMD) gene in
the brain, and its loss in DMD patients and mouse models leads to cognitive impairments …

Characterization of Dystrophin Dp71 Expression and Interaction Partners in Embryonic Brain Development: Implications for Duchenne/Becker Muscular Dystrophy

T Fujimoto, M Mori, M Tonosaki, T Yaoi, K Nakano… - Molecular …, 2025 - Springer
Duchenne/Becker muscular dystrophy (DMD/BMD) manifests progressive muscular
dystrophy and non-progressive central nervous disorder. The neural disorder is possibly …