A5037913230- Neurogenetic and Muscular Disorders Research
- Muscle Physiology and Disorders
- RNA modifications and cancer
- Wnt/β-catenin signaling in development and cancer
- Myasthenia Gravis and Thymoma
- RNA Research and Splicing
- Cardiomyopathy and Myosin Studies
- Advanced Neuroimaging Techniques and Applications
- Hereditary Neurological Disorders
- Ion channel regulation and function
- Caveolin-1 and cellular processes
- Botanical Research and Applications
- Plant responses to water stress
- Pluripotent Stem Cells Research
- Neurogenesis and neuroplasticity mechanisms
- Tree Root and Stability Studies
- Amyotrophic Lateral Sclerosis Research
Université Paris Cité
2012-2024
Inserm
2020-2024
Sorbonne Paris Cité
2012-2022
Centre National de la Recherche Scientifique
2015-2020
SPPIN - Saints-Pères Paris Institute for Neurosciences
2020
Toxicologie, Pharmacologie et Signalisation Cellulaire
2020
Délégation Paris 5
2012-2018
Centre de Neurophysique Physiologie et Pathologie
2015
Neuromuscular junction (NMJ) formation requires the highly coordinated communication of several reciprocal signaling processes between motoneurons and their muscle targets. Identification early, spatially restricted cues in target recognition at NMJ is still poorly documented, especially mammals. Wnt one key pathways regulating synaptic connectivity. Here, we report that Wnt4 contributes to vertebrate vivo. Results from a microarray screen quantitative RT-PCR demonstrate expression regulated...
The muscle-specific kinase MuSK is one of the key molecules orchestrating neuromuscular junction (NMJ) formation. interacts with Wnt morphogens, through its Frizzled-like domain (cysteine-rich [CRD]). Dysfunction CRD in patients has been recently associated onset myasthenia, common disorders mainly characterized by fatigable muscle weakness. However, physiological role Wnt-MuSK interaction NMJ formation and function remains to be elucidated. Here, we demonstrate that deletion mice caused...
Understanding the developmental steps shaping formation of neuromuscular junction (NMJ) connecting motoneurons to skeletal muscle fibers, is critical. Wnt morphogens are key players in this specialized peripheral synapse. Yet, individual and collaborative functions Wnts as well their downstream pathways remain poorly understood at NMJ. Here, we demonstrate through Wnt4 Wnt11 gain function studies culture or mice that enhance acetylcholine receptor (AChR) clustering motor axon outgrowth. In...
Dysregulated RNA metabolism caused by SMN deficiency leads to motor neuron disease spinal muscular atrophy (SMA). Current therapies improve patient outcomes but achieve no definite cure, prompting renewed efforts better understand mechanisms. The calcium channel blocker flunarizine improves function in
Abstract The hereditary neurodegenerative disorder spinal muscular atrophy (SMA) is characterized by the loss of cord motor neurons and skeletal muscle atrophy. SMA caused mutations survival neuron (SMN) gene leading to a decrease in SMN protein levels. deficiency alters nuclear body formation whether it can contribute disease remains unclear. Here we screen series small-molecules on patient fibroblasts identify flunarizine that accumulates into Cajal bodies, bodies important for...
Abstract SMN protein deficiency causes motoneuron disease spinal muscular atrophy (SMA). SMN-based therapies improve patient motor symptoms to variable degrees. An early hallmark of SMA is the perturbation neuromuscular junction (NMJ), a synapse between and muscle cell. NMJ formation depends on acetylcholine receptor (AChR) clustering triggered by agrin its co-receptors lipoprotein receptor-related 4 (LRP4) transmembrane muscle-specific kinase (MuSK) signalling pathway. We have previously...
The motor neurodegenerative disease spinal muscular atrophy (SMA) is caused by alterations of the survival neuron 1 (SMN1) gene involved in RNA metabolism. Although mechanisms are not completely elucidated, SMN protein deficiency leads to abnormal small nuclear ribonucleoproteins (snRNPs) assembly responsible for widespread splicing defects. localizes bodies that lost SMA and adult onset amyotrophic lateral sclerosis (ALS) patient cells harboring TDP-43 or FUS/TLS mutations. We previously...
Collagen Q (COLQ) is a specific collagen that anchors acetylcholinesterase (AChE) in the synaptic cleft of neuromuscular junction. So far, no mutation has been identified ACHE human gene but over 50 different mutations COLQ are causative for congenital myasthenic syndrome (CMS) with AChE deficiency. Mice deficient mimic most functional deficit observed CMS patients. At molecular level, striking consequence absence an increase levels acetylcholine receptor (AChR) mRNAs and proteins vivo vitro...