Peptide-conjugate antisense based splice-correction for Duchenne muscular dystrophy and other neuromuscular diseases

MK Tsoumpra, S Fukumoto, T Matsumoto, S Takeda… - …, 2019 - thelancet.com
Duchenne muscular dystrophy (DMD) is an X-linked disorder characterized by progressive
muscle degeneration, caused by the absence of dystrophin. Exon skipping by antisense …

Evaluating the potential of novel genetic approaches for the treatment of Duchenne muscular dystrophy

V Himič, KE Davies - European Journal of Human Genetics, 2021 - nature.com
Duchenne muscular dystrophy (DMD) is an X-linked progressive muscle-wasting disorder
that is caused by a lack of functional dystrophin, a cytoplasmic protein necessary for the …

[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 …

miR-378 affects metabolic disturbances in the mdx model of Duchenne muscular dystrophy

P Podkalicka, O Mucha, K Kaziród, K Szade… - Scientific Reports, 2022 - nature.com
Although Duchenne muscular dystrophy (DMD) primarily affects muscle tissues, the
alterations to systemic metabolism manifested in DMD patients contribute to the severe …

Astrocytes in rare neurological conditions: Morphological and functional considerations

K Ravi, MJ Paidas, A Saad… - Journal of Comparative …, 2021 - Wiley Online Library
Astrocytes are a population of central nervous system (CNS) cells with distinctive
morphological and functional characteristics that differ within specific areas of the brain and …

Neuronal innervation regulates the secretion of neurotrophic myokines and exosomes from skeletal muscle

KY Huang, G Upadhyay, Y Ahn… - Proceedings of the …, 2024 - National Acad Sciences
Myokines and exosomes, originating from skeletal muscle, are shown to play a significant
role in maintaining brain homeostasis. While exercise has been reported to promote muscle …

Therapeutic aspects of cell signaling and communication in Duchenne muscular dystrophy

A Starosta, P Konieczny - Cellular and Molecular Life Sciences, 2021 - Springer
Duchenne muscular dystrophy (DMD) is a devastating chromosome X-linked disease that
manifests predominantly in progressive skeletal muscle wasting and dysfunctions in the …

Social cognition in DMD and BMD dystrophinopathies: a cross-sectional preliminary study

I García, O Martínez, JF López-Paz… - The Clinical …, 2024 - Taylor & Francis
Abstract Objective: The dystrophinopathies called Duchenne and Becker muscular
dystrophies (DMD/BMD) are rare, progressive, incurable, and life-limiting paediatric-onset …

Defects of full-length dystrophin trigger retinal neuron damage and synapse alterations by disrupting functional autophagy

E Catalani, S Bongiorni, AR Taddei, M Mezzetti… - Cellular and Molecular …, 2021 - Springer
Dystrophin (dys) mutations predispose Duchenne muscular disease (DMD) patients to brain
and retinal complications. Although different dys variants, including long dys products, are …

Characterization of Alzheimer's disease‐like neuropathology in Duchenne's muscular dystrophy using the DBA/2J mdx mouse model

GC Hayward, D Caceres, EN Copeland… - FEBS Open …, 2022 - Wiley Online Library
Duchenne muscular dystrophy (DMD) is a progressive muscle wasting disorder caused by a
mutation in the dystrophin gene. In addition to muscle pathology, some patients with DMD …