A5073013936- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- Autism Spectrum Disorder Research
- Congenital heart defects research
- MicroRNA in disease regulation
- Endoplasmic Reticulum Stress and Disease
- Cancer-related molecular mechanisms research
- Neonatal Health and Biochemistry
- Adenosine and Purinergic Signaling
- Acute Myocardial Infarction Research
- Fatty Acid Research and Health
- Circular RNAs in diseases
- Peptidase Inhibition and Analysis
- Ubiquitin and proteasome pathways
- Advanced Proteomics Techniques and Applications
- RNA Research and Splicing
- Mass Spectrometry Techniques and Applications
- Advanced Battery Technologies Research
- Receptor Mechanisms and Signaling
- Metabolomics and Mass Spectrometry Studies
- Pancreatic function and diabetes
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Birth, Development, and Health
- Lipid metabolism and biosynthesis
- Radiation Effects in Electronics
Université de Sherbrooke
2015-2025
Centre Hospitalier Universitaire de Sherbrooke
2019-2022
Centre Intégré Universitaire de Santé et de Services Sociaux du Centre-Sud-de-l'Île-de-Montréal
2020-2021
Hôtel-Dieu de Québec
2003
Université de Montréal
1998
Université Laval
1997
Hôpital Saint-François d'Assise
1996
Hôpital Notre-Dame
1994
Institut National de la Recherche Scientifique
1993
The fragile X syndrome results from a transcriptional silencing of the FMR1 gene and absence its encoded protein. FMRP is cytoplasmic RNA-binding protein, whose specific cellular function still unknown. We present evidence that virtually all detectable in mouse NIH 3T3 human HeLa cells found strictly association with mRNA actively translating polyribosomes. Furthermore, released polyribosomes associated ribonucleoprotein complexes sedimentation coefficients 60–70S selection on...
Thyroid hormones play a critical role in the growth of many organs, especially brain. Polybrominated diphenyl ethers (PBDEs) and polychlorinated biphenyls (PCBs) interact with thyroid pathway may disturb neurodevelopment. This prospective study was designed to examine associations between maternal blood PBDEs PCBs early pregnancy levels umbilical-cord blood. Levels low-brominated PBDEs, 3 PCB congeners, total free (triiodothyronine (T3) thyroxine (T4)), thyroid-stimulating hormone,...
Fragile X syndrome (FXS) results from dynamic mutations leading ultimately to the absence of expression Mental Retardation Protein (FMRP). It is characterized by synaptic upregulated protein synthesis and immature dendritic spines associated with altered brain plasticity cognitive functions. Recent work in Fmr1 knockout mice has shown that lovastatin, an inhibitor Ras‐ERK1/2, normalized hippocampus synthesis. We hypothesize as a disease‐modifying drug, would counterweigh FMRP improve...
PCSK9 (proprotein convertase subtilisin-kexin 9) enhances the degradation of LDLR (low-density lipoprotein receptor) in endosomes/lysosomes. This study aimed to determine sites phosphorylation at Ser-residues and consequences such posttranslational modification on secretion activity LDLR. Approach Results: Fam20C (family with sequence similarity 20, member C) phosphorylates serines secretory proteins containing motif S-X-E/phospho-Ser, including cholesterol-regulating PCSK9. In situ...
Fragile X syndrome (FXS) is the primary hereditary cause of intellectual disability and autism spectrum disorder. It characterized by exacerbated neuronal excitability, its correction considered an objective measure treatment response in animal models, a marker albeit rarely used clinical trials. Here, we extensive transcranial magnetic stimulation (TMS) battery to assess neurophysiological effects therapy combining two disease-modifying drugs, lovastatin (40 mg) minocycline (100 mg),...
Fragile X Syndrome (FXS) is caused by mutations in the fragile mental retardation 1 gene, characterized low plasma cholesterol levels. Considering essential role of brain signaling and synaptogenesis, it important to screen for abnormalities FXS explore their link with neuropsychological profiles. Brain synthesized situ, excess primarily converted 24(S)-hydroxycholesterol (24(S)-OHC). 27-hydroxycholesterol (27-OHC) major oxidation metabolite that crosses blood-brain barrier from peripheral...
To establish whether platelets from fragile X syndrome (FXS) individuals recapitulate FXS mouse neurons' defects in ERK and Akt pathways, to evaluate the effect of lovastatin on these pathways.ERK phosphorylation (pERK, pAkt) statuses were assessed with quantitative Western blotting before after a 12-week trial.Levels pERK pAkt increased platelets, specifically normalized activity. Changes correlated clinical response lovastatin.Platelets' signaling pathways provide biomarkers that can be...
FMRP is an RNA binding protein whose absence produces pathological manifestations of the fragile-X syndrome. a component mRNP complexes found in association with actively translating polyribosomes, trafficking neurites, granules cytoplasm and, Drosophila, RNAi machinery. We report here identification and characterization novel FMRP-interacting associated to polyribosomes as containing FMRP. named this 82-FIP (82-kD Interacting Protein). interacts through interaction motif located its...
A high consumption of trans fatty acids (TFAs) is associated with an increased risk cardiovascular diseases (CVDs). High-density lipoproteins (HDLs) have many cardioprotective properties and transport functional microRNAs (miRNAs) to recipient cells. We hypothesized that dietary TFAs modify the HDL-carried miRNA profile, therefore modulating its properties. assessed whether modifies miR-223-3p miR-135a-3p concentration inter-relationship between diet-induced changes in CVD markers. In a...
Fragile X Syndrome (FXS) is the main genetic cause of autism and intellectual deficiency resulting absence Mental Retardation Protein (FMRP). Clinical picture characterized by cognitive impairment associated with a broad spectrum psychiatric comorbidities including disorders attention-deficit/hyperactivity disorders. Some these have been lipid abnormalities lower cholesterol levels. Since lipids are important for neuronal development, we aim to investigate profile French Canadian-FXS...
Abstract Fragile-X syndrome (FXS) is characterized by neurological and psychiatric problems symptomatic of cortical hyperexcitability. Recent animal studies identified deficient γ-aminobutyricacid (GABA) inhibition as a key mechanism for hyperexcitability in FXS, but the GABA system remains largely unexplored humans with disorder. The primary objective this study was to assess GABA-mediated its relationship patients FXS. Transcranial magnetic stimulation (TMS) used corticospinal inhibitory...
Lessard M, Chouiali A, Drouin R, Sébire G, Corbin F. Quantitative measurement of FMRP in blood platelets as a new screening test for fragile X syndrome. The syndrome usually results from CGG repeats expansion and methylation the FMR1 gene leading to absence expression its encoded protein, mental retardation protein (FMRP). Therefore, diagnosis is traditionally based on detection these molecular alterations. As an alternative, FMRP‐based methods have been proposed over years. Most them are...
Aim: High-density lipoproteins (HDLs) are associated to cardioprotection and transport functional miRNAs in circulation. The aim of this study is assess whether consumption trans fatty acids (TFAs) modifies the HDL-carried miRNA concentration their contribution plasmatic pool. Methods: In a double-blind, randomized crossover controlled study, nine healthy men were fed each three isoenergetic 4-week diets: first, rich industrial TFAs; second, TFAs from ruminants; third, low TFAs. extracted...
Background: Limited success of previous clinical trials for Fragile X syndrome (FXS) has led researchers to consider combining different drugs correct the pleiotropic consequences caused by absence mental retardation protein (FMRP). Here, we report results LovaMiX trial, first trial FXS two disease-modifying drugs, lovastatin, and minocycline, which have both shown positive effects when used independently. Aim: The main goals study were assess safety efficacy a treatment lovastatin...
Fragile X syndrome (FXS) is the most prevalent monogenic cause of intellectual disability and autism spectrum disorder (ASD). Affected individuals have a high prevalence hypocholesterolemia, however, underlying mechanisms clinical significance remains unknown. We hypothesized that decrease in plasma cholesterol levels associated with an alteration content within lipid rafts (LRs) which ultimately affects profile FXS individuals. The platelets LRs were isolated by ultracentrifugation on...
Background Fragile X syndrome (FXS) is the leading inherited cause of intellectual disability and caused by loss expression mental retardation protein (FMRP). In animal model FXS, absence FMRP leads to an aberrant rate neuronal synthesis, which in turn believed be at origin defects regarding spine morphology synaptic plasticity. Normalisation synthesis these models has been associated with a rescue FXS behavioral biochemicals phenotype, thus establishing as one most promising monitoring...
Accurate quantification of 24(S)-hydroxycholesterol and 27-hydroxycholesterol holds substantial biological significance due to their involvement in pivotal cellular processes, encompassing cholesterol homeostasis, inflammatory responses, neuronal signaling, potential as disease biomarkers. The plasma determination these oxysterols is challenging considering low concentrations similarities terms empirical formulae, molecular structure, physicochemical properties across all human endogenous...
<ns4:p>Sample preparation is a crucial step for liquid chromatography-tandem mass spectrometry (LC-MS/MS)-based proteomics. Sodium dodecyl sulfate (SDS) powerful denaturing detergent that allows long-term preservation of protein integrity. However, as it inhibits trypsin and interferes with LC-MS/MS analyses, must be removed from samples prior to these experiments. The Filter-Aided Sample Preparation (FASP) method actually one the preferred simplest methods such purpose. Nonetheless, there...
Fragile X Syndrome (FXS) is the most prevalent monogenic cause of Autism Spectrum Disorders (ASDs). Despite a common genetic etiology, affected individuals display heterogenous metabolic abnormalities including hypocholesterolemia. Although changes in metabolism fatty acids (FAs) have been reported various neuropsychiatric disorders, it has not explored humans with FXS. In this study, we investigated FA profiles two different groups: (1) an Argentinian group, FXS and age- sex-matched...