A5079836189- Neurogenesis and neuroplasticity mechanisms
- Signaling Pathways in Disease
- Axon Guidance and Neuronal Signaling
- Developmental Biology and Gene Regulation
- Nerve injury and regeneration
- Animal Genetics and Reproduction
- Zebrafish Biomedical Research Applications
- Vascular Malformations Diagnosis and Treatment
- Neurogenetic and Muscular Disorders Research
- Intracranial Aneurysms: Treatment and Complications
- RNA regulation and disease
- Retinal and Macular Surgery
- Congenital heart defects research
- Hippo pathway signaling and YAP/TAZ
- RNA Research and Splicing
- RNA modifications and cancer
- Wnt/β-catenin signaling in development and cancer
- Reproductive biology and impacts on aquatic species
- MicroRNA in disease regulation
- Microtubule and mitosis dynamics
- Skin and Cellular Biology Research
- RNA Interference and Gene Delivery
- Cancer Mechanisms and Therapy
- Hemispheric Asymmetry in Neuroscience
- Virus-based gene therapy research
Bicêtre Hospital
2011-2025
Université Paris-Saclay
2013-2025
Inserm
2014-2025
Université Paris-Sud
2018
King's College London
2014
Medical Research Council
2014
Guy's Hospital
2014
UCL Australia
2009
University College London
2003-2007
Université Paris Cité
2002
Wnt/β-catenin signaling plays a major role in the development of nervous system and contributes to neuronal plasticity. However, its myelination remains unclear. Here, we identify pathway as an essential driver myelin gene expression. The selective inhibition Wnt components by small interfering RNA or dominant-negative forms blocks expression protein zero (MPZ) peripheral 22 (PMP22) mouse Schwann cells proteolipid oligodendrocytes. Moreover, activation recombinant Wnt1 ligand increases...
Non-syndromic arthrogryposis multiplex congenita (AMC) is characterized by multiple congenital contractures resulting from reduced fetal mobility. Genetic mapping and whole exome sequencing (WES) were performed in 31 and/or consanguineous undiagnosed AMC families. Although this approach identified known genes, we here report pathogenic mutations two new genes. Homozygous frameshift CNTNAP1 found four unrelated Patients showed a marked reduction motor nerve conduction velocity (<10 m/s)...
Background Arthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the diagnosis rates of AMC, evaluate added value whole exome sequencing (WES) compared with targeted (TES) identify new genes 315 unrelated undiagnosed families. Methods Several genomic approaches used including mapping disease loci consanguineous families, TES then WES. Sanger was...
The Tau protein is the major component of intracellular filaments observed in a number neurodegenerative diseases known as tauopathies. pathological mutant containing proline-to-leucine mutation at position 301 (P301L) leads to severe human tauopathy. Here, we assess impact FK506-binding with molecular mass ∼52 kDa (FKBP52), an immunophilin that interacts physiological Tau, on Tau-P301L activity. We identify direct interaction FKBP52 and its phosphorylated forms demonstrate FKBP52's ability...
See Meschia (doi:10.1093/brain/awy066) for a scientific commentary on this article.Vein of Galen aneurysmal malformation is congenital anomaly the cerebral vasculature representing 30% all paediatric vascular malformations. We conducted whole exome sequencing in 19 unrelated patients presenting and subsequently screened candidate genes cohort 32 additional using either targeted or Sanger sequencing. In 51 patients, we found five affected individuals with heterozygous mutations EPHB4...
Abstract Background: ADAR1 is a double-stranded RNA editing enzyme that prevents autoimmunity against endogenous transcripts by blocking interferon responses triggered cytosolic sensors. has been proposed as therapeutic target in immuno-oncology, but yet, clinically-actionable predictive biomarkers for inhibition sensitivity are lacking. We used functional genomics to uncover and characterize novel, mechanism-based genetic vulnerability of cancer cells which confers inhibition. Methods: A...
Abstract Summary: Zebrafish represents an excellent model to study the function of vertebrate genes (e.g., well‐developed genetics, large number mutants, and genomic sequencing in progress), inasmuch as we have tools manipulate gene expression. Recent use injected morpholinos eggs provides a good method “ knockdown ” expression early development (Nasevicius Ekker, 2000), “caged” RNA allows overexpress specific set cells (Ando et al. , 2001). However, specifically modify juvenile or adult is...
Abstract Background Morphogenesis of the zebrafish neural tube requires coordinated movement many cells in both time and space. A good example this is plate as they converge towards dorsal midline before internalizing to form a keel. How these are regulated ensure that move together coherent tissue unknown. Previous work other systems has suggested underlying mesoderm may play role process but not been shown directly vivo . Results Here we analyze roles subjacent coordination cell movements...
Axon ensheathment by specialized glial cells is an important process for fast propagation of action potentials. The rapid electrical conduction along myelinated axons mainly due to its saltatory nature characterized the accumulation ion channels at nodes Ranvier. However, how these are transported and anchored not fully understood. We have identified N-myc downstream-regulated gene 4, ndrg4, as a novel factor that regulates sodium channel clustering in zebrafish. Analysis chimeric larvae...
Schwann cells (SCs) migrate along peripheral axons and divide intensively to generate the right number of prior axonal ensheathment; however, little is known regarding temporal molecular control their division its impact on myelination. We report that Sil, a spindle pole protein associated with autosomal recessive primary microcephaly, required for mitotic exit SCs. In sil-deficient cassiopeia (csp-/-) mutants, SCs fail radially sort myelinate axons. Elevation cAMP, but not Rac1 activity, in...
Objective To study the genotypes and phenotypes of cerebral arteriovenous fistulas that drain or do not through vein Galen, true Galen aneurysmal malformations, in order to determine whether genotyping could help improve classification these malformations their management. Methods We carried out a retrospective review genetic phenotypic data databases four centers. All children with fistula aged below 18 years at onset were included. recorded nature variant absence variant, age onset, type...
The Regulator of G protein signaling 4 (Rgs4) is a member the RGS proteins superfamily that modulates activity G-protein coupled receptors. It mainly expressed in nervous system and linked to several neuronal pathways; however, its role neural development vivo remains inconclusive. Here, we generated characterized rgs4 loss function model (MZrgs4) zebrafish. MZrgs4 embryos showed motility defects presented reduced head eye sizes, reflecting defective motoneurons axon outgrowth significant...
Abstract Background Schwann cells (SCs) are specialized glial of the peripheral nervous system that produce myelin and promote fast action potential propagation. In order to myelinate, SCs engage in a series events include migration division along axons, followed by extensive cytoskeletal rearrangements ensure axonal ensheathment myelination. polarized extend their processes an abaxonal‐adaxonal axis. Here, we investigate role apical polarity proteins, Pals1a, aPKCλ, SC behavior during...
ABSTRACT The temporal control of mitotic exit individual Schwann cells (SCs) is essential for radial sorting and peripheral myelination. However, it remains unknown when, during their multiple rounds division, SCs initiate myelin signaling in vivo . By manipulating SC division development, we report that when skip migration, but not sorting, they fail to myelinate axons. This coincides with a sharp decrease Laminin expression within the posterior lateral line nerve. Interestingly, elevating...