A5003118015- Genetic Neurodegenerative Diseases
- RNA Research and Splicing
- Neurogenetic and Muscular Disorders Research
- Muscle Physiology and Disorders
- Parkinson's Disease Mechanisms and Treatments
- Neurological disorders and treatments
- Ion channel regulation and function
- Wnt/β-catenin signaling in development and cancer
- Hippo pathway signaling and YAP/TAZ
- Muscle metabolism and nutrition
- Nuclear Structure and Function
- Hereditary Neurological Disorders
- Cellular Mechanics and Interactions
Sorbonne Université
2020-2024
Centre de Recherche en Myologie
2020-2024
Institut de Myologie
2020-2024
Inserm
2020-2024
Abstract Sarcopenia involves a progressive loss of skeletal muscle force, quality and mass during ageing, which results in increased inability death; however, no cure has been established thus far. Growth differentiation factor 5 (GDF5) described to modulate maintenance various contexts. For our proof concept, we overexpressed GDF5 by AAV vector injection tibialis anterior adult aged (20 months) mice performed molecular functional analysis muscle. We analysed human vastus lateralis biopsies...
Abstract Muscleblind-like proteins (MBNLs) are a family of RNA-binding that play essential roles in the regulation RNA metabolism. Beyond their canonical role regulation, MBNL have emerged as key players pathogenesis Myotonic Dystrophy type 1 (DM1). In DM1, sequestration by expansion CUG repeat leads to functional depletion MBNL, resulting deregulated alternative splicing and aberrant processing, which underlie clinical features disease. While attention has focused on functions skeletal...
The development of the neuromuscular junction (NMJ) requires dynamic trans-synaptic coordination orchestrated by secreted factors, including Wnt family morphogens. To investigate how these synaptic cues in NMJ are transduced, particularly regulation acetylcholine receptor (AChR) accumulation postsynaptic membrane, we explored function Van Gogh–like protein 2 (Vangl2), a core component planar cell polarity signaling. We found that conditional, muscle-specific ablation Vangl2 mice reproduced...
Abstract The development of the neuromuscular junction (NMJ) requires dynamic trans-synaptic coordination orchestrated by secreted factors, including morphogens Wnt family. Yet, how signal these synaptic cues is transduced, and particularly during regulation acetylcholine receptor (AChR) accumulation in postsynaptic membrane remains unclear. We explored function Van Gogh-Like protein 2 (Vangl2), a core component planar cell polarity signaling. showed that conditional genetic ablation Vangl2...