[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 …

[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 …

Transsynaptic binding of orphan receptor GPR179 to dystroglycan-pikachurin complex is essential for the synaptic organization of photoreceptors

C Orlandi, Y Omori, Y Wang, Y Cao, A Ueno, MJ Roux… - Cell reports, 2018 - cell.com
Establishing synaptic contacts between neurons is paramount for nervous system function.
This process involves transsynaptic interactions between a host of cell adhesion molecules …

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 …

Ocular and neurodevelopmental features of Duchenne muscular dystrophy: a signature of dystrophin function in the central nervous system

V Ricotti, H Jägle, M Theodorou, AT Moore… - European Journal of …, 2016 - nature.com
Multiple isoforms of dystrophin (Dp427, Dp260, Dp140, Dp71) are expressed differentially in
the central nervous system (CNS) including the retinal layers. Disruption of these protein …

Cognitive dysfunction in the dystrophin-deficient mouse model of Duchenne muscular dystrophy: a reappraisal from sensory to executive processes

R Chaussenot, JM Edeline, B Le Bec… - Neurobiology of learning …, 2015 - Elsevier
Duchenne muscular dystrophy (DMD) is associated with language disabilities and deficits in
learning and memory, leading to intellectual disability in a patient subpopulation. Recent …

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 …

Impact of distinct dystrophin gene mutations on behavioral phenotypes of Duchenne muscular dystrophy

A Saoudi, MD Mitsogiannis, F Zarrouki… - Disease Models & …, 2024 - journals.biologists.com
The severity of brain comorbidities in Duchenne muscular dystrophy (DMD) depends on the
mutation position within the DMD gene and differential loss of distinct brain dystrophin …

Altered astrocyte morphology and vascular development in dystrophin‐D p71‐null mice

A Giocanti‐Auregan, O Vacca, R Bénard, S Cao… - Glia, 2016 - Wiley Online Library
Understanding retinal vascular development is crucial because many retinal vascular
diseases such as diabetic retinopathy (in adults) or retinopathy of prematurity (in children) …

[HTML][HTML] ON and OFF electroretinography and contrast sensitivity in Duchenne muscular dystrophy

MTS Barboni, BV Nagy… - … & visual science, 2013 - jov.arvojournals.org
Purpose.: The study investigated possible asymmetric dysfunction of the ON and OFF visual
mechanisms in DMD (Duchenne muscular dystrophy) patients associated with specific …