A5041230159- Lipid metabolism and disorders
- Cholesterol and Lipid Metabolism
- Lipoproteins and Cardiovascular Health
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Genetics and Neurodevelopmental Disorders
- Epigenetics and DNA Methylation
- Cancer, Lipids, and Metabolism
- Drug Transport and Resistance Mechanisms
- Liver Disease Diagnosis and Treatment
- Genetic Syndromes and Imprinting
- RNA modifications and cancer
- Folate and B Vitamins Research
- Ubiquitin and proteasome pathways
- Cellular transport and secretion
- Autism Spectrum Disorder Research
- Neonatal Health and Biochemistry
- interferon and immune responses
- Iron Metabolism and Disorders
- Inflammasome and immune disorders
- Genomics, phytochemicals, and oxidative stress
- Microtubule and mitosis dynamics
- Cell death mechanisms and regulation
- Cynara cardunculus studies
- Signaling Pathways in Disease
- Health Systems, Economic Evaluations, Quality of Life
Sorbonne Université
2014-2023
Unité de recherche sur les maladies cardiovasculaires et métaboliques
2021-2023
Université Paris 1 Panthéon-Sorbonne
2019-2023
Inserm
2012-2023
Assistance Publique – Hôpitaux de Paris
2009-2022
Pitié-Salpêtrière Hospital
2006-2022
Fondation pour l’innovation en Cadiométabolisme et Nutrition
2012-2022
Hôpital Charles-Foix
2019
Centre de Génétique Moléculaire
2017-2018
Institut National de Recherche en Santé Publique
2017
Following the recent discovery that methyl-CpG binding protein 2 (MECP2) gene located on Xq28 is involved in Rett syndrome (RTT), a wild spectrum of phenotypes, including mental handicap, has been shown to be associated with mutations MECP2. These findings, compelling genetic evidence suggesting presence additional genes besides RabGDI1 and FMR2 non-specific X-linked retardation (MRX), prompted us investigate MECP2 MRX families. Two novel mutations, not found RTT, were identified. The first...
Objective— Maintenance of cholesterol homeostasis in human macrophages is essential to prevent foam cell formation. We evaluated the relative contribution ABCA1 and ABCG1 transporters efflux from macrophages, capacity LXR agonists reduce formation by stimulating export cellular cholesterol. Methods Results— mRNA levels were strongly increased acLDL-loaded THP-1 HMDM on stimulation with agonists. However, silencing expression using ABCG1-specific siRNA indicated that was not for HDL...
X-linked mental retardation is a very common condition that affects approximately 1 in 600 males. Despite recent progress, most cases the molecular defects underlying this disorder remain unknown. Recently, study using candidate gene approach demonstrated presence of mutations PAK3 (p21-activating kinase) associated with nonspecific retardation. member larger family PAK genes. proteins have been implicated as critical downstream effectors link Rho-GTPases to actin cytoskeleton and MAP kinase...
The influence of HFE gene mutations and liver iron overload on hepatocellular carcinoma (HCC) occurrence in patients with cirrhosis is subjected to controversial results. aim this work was clarify a large cohort prospectively followed-up cirrhotic classified according the cause their disease.Three hundred one consecutive (162 alcoholics 139 HCV-infected patients) were included at time diagnosis followed-up. Liver initial biopsy modified Deugnier's score C282Y/H63D assessed.In alcoholic (mean...
Background Low concentrations of high-density lipoprotein cholesterol (HDL-C) represent a well-established cardiovascular risk factor. Paradoxically, extremely high HDL-C levels are equally associated with elevated risk, resulting in the U-shape relationship disease. Mechanisms underlying this association presently unknown. We hypothesised that capacity (HDL) to acquire free upon triglyceride-rich (TGRL) lipolysis by lipase underlies non-linear between and risk. Methods To assess our...
Marked lowering of low-density-lipoprotein cholesterol (LDL-C) levels (< or =50%) with intensive statin therapy is associated major reduction in cardiovascular risk, but limited by a potential increase adverse effects, thereby justifying optimization LDL-C minimal risk. The organic anion transporting polypeptide-1B1 encoded the SLCO1B1 gene implicated as transporter cellular uptake statins, and notably fluvastatin. We postulated that genetic variation might affect bioavailability, therefore...
Caspase-8 is the prototypic initiator of death domain receptor pathway apoptosis. Here, we report that caspase-8 not only triggers and amplifies apoptotic process at cytoplasmic sites but can also act as an executioner nuclear levels. In a murine model acute ischemia, relocated into nucleus neurons, where it cleaves PARP-2, member poly(ADP-ribose) polymerase family involved in DNA repair. As indicated by site-directed mutagenesis, PARP-2 cleavage occurs preferentially LQMD sequence mapped...
Non-specific X-linked mental retardation (MRX) is a very common disorder which affects approximately 1 in 600 males. Despite this high frequency, little known about the molecular defects underlying disorder, mainly because of clinical and genetic heterogeneity evident from linkage studies. Recently, collaborative study using candidate gene approach demonstrated presence mutations GDIalpha, Rab GDP-dissociation inhibitor encoded by localized Xq28, associated with non-specific retardation....
Scavenger receptor class B type I (SR-BI)-deficient mice display reduced survival to endotoxic shock and sepsis. The understanding of the mechanisms underlying SR-BI protection has been hampered by large spectrum functions ligands. It notably plays an important role in liver high-density lipoprotein metabolism, but it is also thought participate innate immunity as a pattern recognition for bacterial endotoxins, such LPS. In this study, we sought determine tissue-specific contribution...
Postprandial atherogenic lipoproteins, characterizing high-risk patients, correlate positively with cardiovascular events. Although the effect of niacin on fasting lipids is well established, its impact atheroprotective reverse cholesterol transport (RCT) pathway and functional features circulating lipoproteins during postprandial state remains indeterminate.We evaluated RCT phase in dyslipidemic patients displaying a low high-density lipoprotein (HDL) phenotype. Ten subjects stable statin...
Abstract Non‐syndromic X‐linked mental retardation (MRX) is a frequent cause of inherited retardation. It heterogeneous condition in which the first 12 genes discovered to date explain no more than 15% MRX situations ascertained by recurrence multiplex families. In Rett syndrome (RTT), an dominant mostly sporadic and usually lethal males, most affected females have been shown be mutated Methyl–CpG binding protein 2 gene ( MECP2 ) that maps at Xq28. Some mentally retarded males related RTT...
In response to physical exercise and diet, skeletal muscle adapts energetic demands through large transcriptional changes. This remodelling is associated with changes in DNA methylation which may participate the metabolic adaptation extracellular stimuli. Yet, mechanisms by muscle-borne machinery responds diet impacts function are unknown. Here, we investigated of de novo fully differentiated muscle. We generated muscle-specific methyltransferase 3A (DNMT3A) knockout mice (mD3AKO) impact...
Abstract Significant production of the growth factor IGF2 has been reported in human hepatocellular carcinomas (HCCs). Disturbances associated with changes methylation at this locus or affecting 11p15.5 imprinting domain as a whole can be postulated HCCs. In present study, status differentially methylated regions imprinted genes TSSC5 , LIT1 and which span 11p15 domain, was analysed 71 liver tissues from virus‐associated non‐virus‐associated HCCs compared six normal tissues. Altered observed...