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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …