A5048501611- Genetics and Neurodevelopmental Disorders
- Muscle Physiology and Disorders
- Microtubule and mitosis dynamics
- Neurogenesis and neuroplasticity mechanisms
- Cellular transport and secretion
- Congenital heart defects research
- RNA Research and Splicing
- RNA modifications and cancer
- Ubiquitin and proteasome pathways
- Genetic Neurodegenerative Diseases
- Genomic variations and chromosomal abnormalities
- Fetal and Pediatric Neurological Disorders
- RNA regulation and disease
- Genomics and Rare Diseases
- Neurological diseases and metabolism
- Epigenetics and DNA Methylation
- Genomics and Chromatin Dynamics
- Neurogenetic and Muscular Disorders Research
- Mitochondrial Function and Pathology
- Epilepsy research and treatment
- RNA and protein synthesis mechanisms
- Genetic Syndromes and Imprinting
- Neurological disorders and treatments
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Neuroscience and Neuropharmacology Research
Inserm
2013-2022
Hôpitaux Universitaires de Strasbourg
2015-2022
Institut de génétique et de biologie moléculaire et cellulaire
1998-2022
Centre National de la Recherche Scientifique
2013-2022
Université de Strasbourg
2015-2022
Hôpital Civil, Strasbourg
2016-2022
Laboratoire de Génétique Médicale
2022
Institut de Biologie Moléculaire et Cellulaire
1995-2021
Queen's University
2019
Institut Cochin
2009-2018
Using in vitro amplification of cDNA by the polymerase chain reaction, we have detected spliced transcripts various tissue-specific genes (genes for anti-Müllerian hormone, beta-globin, aldolase A, and factor VIIIc) human nonspecific cells, such as fibroblasts, hepatoma lymphoblasts. In rats, erythroid- liver-type pyruvate kinase were also brain, lung, muscle. The abundance these "illegitimate" is very low; yet, their existence possibility amplifying them reaction provide a powerful tool to...
The development of the mammalian brain is dependent on extensive neuronal migration. Mutations in mice and humans that affect migration result abnormal lamination structures with associated behavioral deficits. Here, we report identification a hyperactive N-ethyl-N-nitrosourea (ENU)-induced mouse mutant abnormalities laminar architecture hippocampus cortex, accompanied by impaired We show causative mutation lies guanosine triphosphate (GTP) binding pocket α-1 tubulin (Tuba1) affects...
Abstract Macrophages (MPs) exert either beneficial or deleterious effects on tissue repair, depending their activation/polarization state. They are crucial for adult skeletal muscle notably by acting myogenic precursor cells. However, these interactions have not been fully characterized. Here, we explored both in vitro and vivo, human, the of differentially activated MPs with cells (MPCs) during myogenesis regeneration. We showed that through differential secretion cytokines growth factors,...
UMD-DMD France is a knowledgebase developed through multicenter academic effort to provide an up-to-date resource of curated information covering all identified mutations in patients with dystrophinopathy. The current release includes 2,411 entries consisting 2,084 independent mutational events 2,046 male and 38 expressing females, which corresponds estimated number 39 people per million genetic diagnosis dystrophinopathy France. Mutations consist 1,404 large deletions, 215 duplications, 465...
Complex cortical malformations associated with mutations in tubulin genes: TUBA1A, TUBA8, TUBB2B, TUBB3, TUBB5 and TUBG1 commonly referred to as tubulinopathies, are a heterogeneous group of conditions wide spectrum clinical severity. Among the 106 patients selected having complex malformations, 45 were found carry TUBA1A (42.5%), 18 TUBB2B (16.9%), 11 TUBB3 (10.4%), three (2.8%), (2.8%). No identified TUBA8. Systematic review patients' neuroimaging neuropathological data allowed us...
Mutations in the TUBB3 gene, encoding β-tubulin isotype III, were recently shown to be associated with various neurological syndromes which all have common ocular motility disorder, congenital fibrosis of extraocular muscle type 3 (CFEOM3). Surprisingly and contrast previously described TUBA1A TUBB2B phenotypes, no evidence dysfunctional neuronal migration cortical organization was reported. In our study, we report discovery six novel missense mutations including one fetal case homozygous...
PurposeTo define the phenotypic and mutational spectrum of epilepsies related to DEPDC5, NPRL2 NPRL3 genes encoding GATOR1 complex, a negative regulator mTORC1 pathwayMethodsWe analyzed clinical genetic data 73 novel probands (familial sporadic) with epilepsy-related variants in GATOR1-encoding proposed new guidelines for interpretation variants.ResultsThe seizure phenotype consisted mostly focal seizures (e.g., hypermotor or frontal lobe 50%), mean age at onset 4.4 years, often...
X-linked lissencephaly is a severe brain malformation affecting males. Recently it has been demonstrated that the doublecortin gene implicated in this disorder. In order to study function of Doublecortin, we analyzed protein upon transfection COS cells. Doublecortin was found bind microtubule cytoskeleton. vitro assays (using biochemical methods, DIC microscopy and electron microscopy) demonstrate binds microtubules directly, stabilizes them causes bundling. vivo also show basic with an...
We have recently reported a missense mutation in exon 4 of the tubulin alpha 1A (Tuba1a) gene hyperactive N-ethyl-N-nitrosourea (ENU) induced mouse mutant with abnormal lamination hippocampus. Neuroanatomical similarities between Tuba1a and mice deficient for Doublecortin (Dcx) Lis1 genes, well-established functional interaction DCX microtubules (MTs), led us to hypothesize that mutations TUBA1A (TUBA3, previous symbol), human homolog Tuba1a, might give rise cortical malformations. This...
Amplification of the mRNA polymerase chain reaction is a very sensitive technique to detect low‐abundance transcripts. We describe in this paper conditions necessary make quantitative. Quantification performed exponential phase amplification process and results are standardized with respect those obtained an exogenous which co‐reverse‐transcribed co‐amplified same as analyzed The primers chosen different exons distinguish fragments from contaminating DNA. Analysis kinetics parameters...
The formation of the mammalian cortex requires generation, migration, and differentiation neurons. vital role that microtubule cytoskeleton plays in these cellular processes is reflected by discovery mutations various tubulin isotypes cause different neurodevelopmental diseases, including lissencephaly (TUBA1A), polymicrogyria (TUBA1A, TUBB2B, TUBB3), an ocular motility disorder (TUBB3). Here, we show Tubb5 expressed neurogenic progenitors mouse its depletion vivo perturbs cell cycle alters...