ArticleCellular and molecular life sciences : CMLS2021
Defects of full-length dystrophin trigger retinal neuron damage and synapse alterations by disrupting functional autophagy.
Article in Cellular and molecular life sciences : CMLS, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 26 citations in OpenAlex.
- Optical coherence tomography findings in Duchenne muscular dystrophy.BMC ophthalmology · 2026Article
- The SIRT1 activator SRT2104 exerts exercise mimetic effects and promotes Duchenne muscular dystrophy recovery.Cell death & disease · 2025Article
- Genome-Wide Association Study and transcriptome analysis reveals a complex gene network that regulates opsin gene expression and cell fate determination inbioRxiv : the preprint server for biology · 2024Article
- Pathological Defects in a Drosophila Model of Alzheimer's Disease and Beneficial Effects of the Natural Product Lisosan G.Biomolecules · 2024Article
- Aberrant gene expression yet undiminished retinal ganglion cell genesis in iPSC-derived models of optic nerve hypoplasia.Ophthalmic genetics · 2024Article
- Targeting Mitochondrial Dysfunction and Oxidative Stress to Prevent the Neurodegeneration of Retinal Ganglion Cells.Antioxidants (Basel, Switzerland) · 2023Review
- RACK1 is evolutionary conserved in satellite stem cell activation and adult skeletal muscle regeneration.Cell death discovery · 2022Article
- Regenerative Strategies for Retinal Neurons: Novel Insights in Non-Mammalian Model Organisms.International journal of molecular sciences · 2022Review
- A Drosophila perspective on retina functions and dysfunctions.Neural regeneration research · 2022Article
- Review
- Transmission at rod and cone ribbon synapses in the retina.Pflugers Archiv : European journal of physiology · 2021Review
- Nutraceutical Strategy to Counteract Eye Neurodegeneration and Oxidative Stress inAntioxidants (Basel, Switzerland) · 2021Article
- Age and Sex-Dependent ADNP Regulation of Muscle Gene Expression Is Correlated with Motor Behavior: Possible Feedback Mechanism with PACAP.International journal of molecular sciences · 2020Article
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Authors and funding
14 authors at 2 institutions in 1 country.
Funding
Abstract
Dystrophin (dys) mutations predispose Duchenne muscular disease (DMD) patients to brain and retinal complications. Although different dys variants, including long dys products, are expressed in the retina, their function is largely unknown. We investigated the putative role of full-length dystrophin in the homeostasis of neuro-retina and its impact on synapsis stabilization and cell fate. Retinas of mdx mice, the most used DMD model which does not express the 427-KDa dys protein (Dp427), showed overlapped cell death and impaired autophagy. Apoptotic neurons in the outer plexiform/inner nuclear layer and the ganglion cell layer had an impaired autophagy with accumulated autophagosomes. The autophagy dysfunction localized at photoreceptor axonal terminals and bipolar, amacrine, and ganglion cells. The absence of Dp427 does not cause a severe phenotype but alters the neuronal architecture, compromising mainly the pre-synaptic photoreceptor terminals and their post-synaptic sites. The analysis of two dystrophic mutants of the fruit fly Drosophila melanogaster, the homozygous Dys
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