A5003538145- Myasthenia Gravis and Thymoma
- Wnt/β-catenin signaling in development and cancer
- Ion channel regulation and function
- Cellular Mechanics and Interactions
- Genetic Neurodegenerative Diseases
- Tendon Structure and Treatment
- Thyroid and Parathyroid Surgery
- Cardiovascular Effects of Exercise
- Tissue Engineering and Regenerative Medicine
- Neonatal Respiratory Health Research
- RNA Research and Splicing
- Nuclear Structure and Function
- Neurogenetic and Muscular Disorders Research
- Hereditary Neurological Disorders
- Pituitary Gland Disorders and Treatments
- Cardiac Fibrosis and Remodeling
- Cellular transport and secretion
- Cancer Treatment and Pharmacology
- Hedgehog Signaling Pathway Studies
- Salivary Gland Tumors Diagnosis and Treatment
- Hippo pathway signaling and YAP/TAZ
- Muscle Physiology and Disorders
Inserm
2018-2023
Sorbonne Université
2018-2023
Centre de Recherche en Myologie
2019-2023
Institut de Myologie
2020-2022
Institut de Neurobiologie de la Méditerranée
2020
Assistance Publique – Hôpitaux de Paris
2020
Aix-Marseille Université
2020
Pitié-Salpêtrière Hospital
2020
Centre Hospitalier Universitaire de Clermont-Ferrand
2020
Institut du Cerveau
2018
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...
To report the identification of 2 new homozygous recessive mutations in synaptotagmin (SYT2) gene as genetic cause severe and early presynaptic forms congenital myasthenic syndromes (CMSs).Next-generation sequencing identified intronic frameshift SYT2 a likely CMS. We describe clinical electromyographic patient phenotypes, perform ex vivo splicing analyses to characterize effect mutation on exon splicing, analyze functional impact this variation at neuromuscular junction (NMJ).The infants...
Abstract Congenital myasthenic syndromes (CMS) are a clinically and genetically heterogeneous group of rare diseases due to mutations in neuromuscular junction (NMJ) protein-coding genes. Until now, many encoding postsynaptic proteins as Agrin, MuSK LRP4 have been identified responsible for increasingly complex CMS phenotypes. The majority gene causes bone including CLS sclerosteosis-2 cases with has described so far. In the French cohort patients, we novel homozygous missense mutation...
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...