A5020004980- Hereditary Neurological Disorders
- Vitamin C and Antioxidants Research
- Peripheral Neuropathies and Disorders
- Genetic and Kidney Cyst Diseases
- Genetics and Neurodevelopmental Disorders
- Genetic Neurodegenerative Diseases
- Vitamin K Research Studies
- Renal and related cancers
- Neurological diseases and metabolism
- Botulinum Toxin and Related Neurological Disorders
- RNA Research and Splicing
- Genetic Syndromes and Imprinting
- Marine Biology and Environmental Chemistry
- Vitamin D Research Studies
- Genomic variations and chromosomal abnormalities
- RNA regulation and disease
- Epigenetics and DNA Methylation
- Prion Diseases and Protein Misfolding
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Pharmacological Effects of Natural Compounds
- Cellular transport and secretion
- Chromosomal and Genetic Variations
- Molecular Biology Techniques and Applications
- Viral Infectious Diseases and Gene Expression in Insects
- Hydraulic Fracturing and Reservoir Analysis
Geotecno (Brazil)
2023-2024
Inserm
2003-2021
Aix-Marseille Université
2011-2021
Nutrition, Obésité et Risque Thrombotique
2013-2018
Unité de recherche sur les maladies cardiovasculaires et métaboliques
2018
Institut National de Recherche en Santé Publique
2008-2016
Zero to Three
2016
Institut National de la Recherche Agronomique du Niger
2014
Hôpital de la Timone
1999-2009
Institut de Neurobiologie de la Méditerranée
2009
The evolution of the variant Creutzfeldt-Jakob disease (vCJD) epidemic is hazardous to predict due uncertainty in ascertaining prevalence infection and because might remain asymptomatic or produce an alternate, sporadic-like phenotype.Transgenic mice were produced that overexpress human prion protein with methionine at codon 129, only allele found so far vCJD-affected patients. These infected prions derived from sporadic CJD (sCJD) cases by intracerebral intraperitoneal route, transmission...
Ascorbic acid (AA), or Vitamin C, is most well known as a nutritional supplement with antioxidant properties. Recently, we demonstrated that high concentrations of AA act on PMP22 gene expression and partially correct the Charcot-Marie-Tooth disease phenotype in mouse model. This due to capacity AA, but not other antioxidants, down-modulate cAMP intracellular concentration by competitive inhibition adenylate cyclase enzymatic activity. Because critical role signalling, decided explore...
Abstract Polycystin‐2 (PC‐2), a protein encoded by PKD2 and involved in autosomal dominant polycystic kidney disease (ADPKD), is non‐selective cationic channel recently implicated the function of primary cilia. We constructed new animal model form transgenic mouse with BAC‐containing human inserted its genome. Two lines overexpressing showed mitotic instability. Fibroblasts from these have abnormal chromosomal numbers. These also supernumerary centrosomes. PC‐2 overexpression associated...
Polycystin-2 (PC-2), a cation channel of the Trp family, is involved in autosomal dominant polycystic kidney disease (ADPKD) type 2 (ADPKD2). This protein has recently been localized to primary cilium where its function seems be mechanosensory phenomenon. However, biological not totally understood, especially tubule formation. In present paper, we describe mouse model for human PC-2 overexpression, obtained by inserting bacterial artificial chromosome (BAC) containing PKD2 gene. Three lines...
Ascorbic acid (AA) has been considered, for a long time, only as the active principle of vitamin C, with antioxidant properties. We recently demonstrated that ascorbic is competitive inhibitor adenylate cyclases, acting global regulator cAMP pool. It was thus interesting to determine new targets AA, linked its potential signalling capacity, especially during cell differentiation. here AA an preadipocyte lines This inhibition dosage dependent. In addition, we describe impact on expression...
Recently, using an animal model of Charcot‐Marie‐Tooth human disorder, we showed that ascorbic acid (AA) represses PMP22 gene expression by acting on intracellular cAMP concentrations. In this work, present kinetics data the inhibitory effect AA upon adenylate cyclase activity. The show molecule acts as a competitive inhibitor enzyme, finding opens new pharmacological avenues.
Ascorbic acid (vitamin C, AA) has long been considered a food supplement necessary for life and preventing scurvy. However, it reported that other small molecules such as retinoic A) different forms of calciferol D) are directly involved in regulating the expression numerous genes. These bind to receptors differentially expressed embryo therefore crucial signalling vertebrate development. The question is: is ascorbic also molecule regulates gene expression? We present discuss recent...
FG syndrome is an X-linked recessive condition in which mental retardation associated with congenital hypotonia, macrocephaly, characteristic face, and constipation. This was mapped by Zhu et al. [Cytogenet Cell Genet 1991;58:2091A] to Xq21.31-q22 linkage analysis a max lod score of 1.2 for the DXYS1X, DXS178, DXS101, DXS94 loci crossovers at DXS16 (Xp22.31) DXS287 (Xq22.3). However, this mapping only provisional needed be refined. In paper, we report results new performed on 10 families...
Journal Article Relationship between Charcot - Marie-Tooth 1A and Smith Magenis regions. snU3 may be a candidate gene for the syndrome Get access Christophe Chevillard, Chevillard Search other works by this author on: Oxford Academic PubMed Google Scholar Denis Le Paslier, Paslier 1CEPH 27 rue J. Dodu75010 Paris Edith Passage, Passage Pierre Ougen, Ougen Alain Billault, Billault Sylvie Boyer, Boyer Mazan, Mazan 2UPR 9006118 route de Narbonne, 31062 Toubuse Jean Bachellerie, Bachellerie...
Different features of motor behaviour were studied on a transgenic mouse model Charcot-Marie-Tooth's disease (CMT). Mutants with 4 or 7 copies the human PMP22 gene leading to phenotype significantly close CMT's type 1A compared control animals. The aim study was validate this and characterise impairments occurring in various lines. Three main types analysis performed 2-month-old mice without any peculiar visible deficit: (i) standardised clinical tests (SHIRPA protocol) demonstrated that...
Scope Here we tested the hypothesis that ascorbic acid (AA) is a signaling molecule acting on stem cells via differentiation of mesoderm derivatives, including myocytes, osteocytes, and adipocytes. Material methods Investigations used murine embryonic cell line CGR8 able to differentiate into different types treated or not with acid. Differentiation was tracked mainly through cellular anatomy (including presence beating cardiomyocytes) expression specific markers. Conclusion The study...
Abstract The X‐linked form of Charcot‐Marie‐Tooth disorder (CMTX) is the second most frequent type (15% CMT forms). It involves GJB1 gene coding for connexin 32, a protein involved in gap junction formation and function. There no curative treatment CMTX. We present data on transgenic lines that was accomplished by inserting human BAC carrying gene, which two different mutations 32 (Cx32) observed patients were introduced. Investigation these models implicated Cx32 control mitotic stability....
Charcot-Marie-Tooth disease type 1A (CMT1A), the most prevalent form of peripheral hereditary neuropathies, has been associated with a duplication genomic segment 1.5 Mb, located in 17p11.2. Recently, same found to be deleted patients another neuropathy, neuropathy liability pressure palsies (HNPP). Highly polymorphic markers are rare this area, rendering diagnosis highly dependent either on invasive examinations (like nerve biopsy) or not totally reliable gene dosage). Thus, we used contig...