ArticleBrain : a journal of neurology2013
Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behaviour.
Article in Brain : a journal of neurology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 1 of them a synthesis that pooled it.
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Who cites it
47 citing papers in PubMed, 1 synthesis or guideline pooled it, 77 citations in OpenAlex.
- Human brain pathology in myotonic dystrophy type 1: A systematic review.Neuropathology : official journal of the Japanese Society of Neuropathology · 2021Pooled it
- Fatty-acid-based antimiR-23b delivery in the DMSXL model: A potential therapeutic strategy for brain dysfunction in myotonic dystrophy type 1.Cell reports. Medicine · 2026Article
- Pre- and postsynaptic upregulation of FasII synergistically underlies neuropathological and behavioral phenotypes in a Drosophila model of myotonic dystrophy.Nature communications · 2025Article
- Altered reversal and extinction learning in the DMSXL mouse model of type I myotonic dystrophy (DM1): An exploratory study.Journal of neuromuscular diseases · 2025Article
- MBNL deficiency in motor neurons disrupts neuromuscular junction maintenance and gait coordination.Brain : a journal of neurology · 2025Article
- Natural Antioxidants Reduce Oxidative Stress and the Toxic Effects of RNA-CUGAntioxidants (Basel, Switzerland) · 2025Article
- Muscle-specific gene editing improves molecular and phenotypic defects in a mouse model of myotonic dystrophy type 1.Clinical and translational medicine · 2025Article
- Muscle-driven spinal cord histological and transcriptomic alterations in a myotonic dystrophy mouse model: insights into neuropathy.Brain communications · 2025Article
- Cerebrospinal fluid proteomic profiling reveals potential biomarkers and altered pathways in myotonic dystrophy type 1.Frontiers in neuroscience · 2025Article
- The Role of Brain Plasticity in Neuromuscular Disorders: Current Knowledge and Future Prospects.Brain sciences · 2024Review
- Excessive rest time during active phase is reliably detected in a mouse model of myotonic dystrophy type 1 using home cage monitoring.Frontiers in behavioral neuroscience · 2023Article
- RNA Foci Formation in a Retinal Glial Model for Spinocerebellar Ataxia Type 7.Life (Basel, Switzerland) · 2022Article
- Recent Progress and Challenges in the Development of Antisense Therapies for Myotonic Dystrophy Type 1.International journal of molecular sciences · 2022Review
- Elevated serum Neurofilament Light chain (NfL) as a potential biomarker of neurological involvement in Myotonic Dystrophy type 1 (DM1).Journal of neurology · 2022Article
- Myotonic dystrophy RNA toxicity alters morphology, adhesion and migration of mouse and human astrocytes.Nature communications · 2022Article
- MECP2-related pathways are dysregulated in a cortical organoid model of myotonic dystrophy.Science translational medicine · 2022Article
- Molecular Therapies for Myotonic Dystrophy Type 1: From Small Drugs to Gene Editing.International journal of molecular sciences · 2022Review
- Time-controlled and muscle-specific CRISPR/Cas9-mediated deletion of CTG-repeat expansion in theMolecular therapy. Nucleic acids · 2022Article
- A comprehensive atlas of fetal splicing patterns in the brain of adult myotonic dystrophy type 1 patients.NAR genomics and bioinformatics · 2022Article
- Deciphering the Complex Molecular Pathogenesis of Myotonic Dystrophy Type 1 through Omics Studies.International journal of molecular sciences · 2022Review
Corrections and comments
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Authors and funding
31 authors at 13 institutions in 6 countries.
Funding
Abstract
Myotonic dystrophy type 1 is a complex multisystemic inherited disorder, which displays multiple debilitating neurological manifestations. Despite recent progress in the understanding of the molecular pathogenesis of myotonic dystrophy type 1 in skeletal muscle and heart, the pathways affected in the central nervous system are largely unknown. To address this question, we studied the only transgenic mouse line expressing CTG trinucleotide repeats in the central nervous system. These mice recreate molecular features of RNA toxicity, such as RNA foci accumulation and missplicing. They exhibit relevant behavioural and cognitive phenotypes, deficits in short-term synaptic plasticity, as well as changes in neurochemical levels. In the search for disease intermediates affected by disease mutation, a global proteomics approach revealed RAB3A upregulation and synapsin I hyperphosphorylation in the central nervous system of transgenic mice, transfected cells and post-mortem brains of patients with myotonic dystrophy type 1. These protein defects were associated with electrophysiological and behavioural deficits in mice and altered spontaneous neurosecretion in cell culture. Taking advantage of a relevant transgenic mouse of a complex human disease, we found a novel connection between physiological phenotypes and synaptic protein dysregulation, indicative of synaptic dysfunction in myotonic dystrophy type 1 brain pathology.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.