A5075476991- Receptor Mechanisms and Signaling
- Endoplasmic Reticulum Stress and Disease
- Autophagy in Disease and Therapy
- Cellular transport and secretion
- Pharmacological Receptor Mechanisms and Effects
- Tryptophan and brain disorders
- Retinal Development and Disorders
- Neuroscience and Neuropharmacology Research
- Calcium signaling and nucleotide metabolism
- MicroRNA in disease regulation
- Alzheimer's disease research and treatments
- Cancer-related gene regulation
- Genetic Neurodegenerative Diseases
- Cholinesterase and Neurodegenerative Diseases
- Lipid Membrane Structure and Behavior
- Hippo pathway signaling and YAP/TAZ
- Wnt/β-catenin signaling in development and cancer
- RNA regulation and disease
Université du Québec à Montréal
2023-2025
Allen Institute for Brain Science
2016-2019
Icahn School of Medicine at Mount Sinai
2016-2019
Université de Sherbrooke
2011-2014
Société Française de Rhumatologie
2014
Centre Hospitalier Universitaire de Sherbrooke
2014
Autophagy is a bulk degradation pathway for long-lived proteins, protein aggregates, and damaged organelles. ULK1 kinase Vps34 lipid are two key autophagy regulators that critical autophagosome biogenesis. However, it isn't fully understood how regulates Vps34, especially in the context of disease. Polyglutamine expansion huntingtin (Htt) causes aberrant accumulation aggregated disrupts various cellular pathways including autophagy, lysosomal pathway, underlying pathogenesis Huntington's...
Abstract Background Dysfunctional autophagy is implicated in Alzheimer’s Disease (AD) pathogenesis. The alterations the expression of many related genes (ATGs) have been reported AD brains; however, disparity changes confounds role AD. Methods To further understand alteration brains, we analyzed transcriptomic (RNAseq) datasets several brain regions (BA10, BA22, BA36 and BA44 223 patients compared to 59 healthy controls) measured 130 ATGs. We used autophagy-deficient mouse models assess...
The vertebrate planar cell polarity (PCP) pathway shares molecular components with the β-catenin–mediated canonical Wnt but acts through membrane complexes containing Vang or Frizzled to orient neighboring cells coordinately. interactions underlying action of in PCP signaling and specification, however, are yet be delineated. Here, we report identification Rack1 as an interacting protein a protein, Vangl2. We demonstrate that is required zebrafish for PCP-regulated processes, including...
Genetic leukoencephalopathies (gLEs) are a group of heterogeneous disorders with white matter abnormalities affecting the central nervous system (CNS). The causative mutation in ~50% gLEs is unknown. Using whole exome sequencing (WES), we identified homozygosity for missense variant, VPS11: c.2536T>G (p.C846G), as genetic cause leukoencephalopathy syndrome five individuals from three unrelated Ashkenazi Jewish (AJ) families. All patients exhibited highly concordant disease progression...
We and others have shown that trafficking of G protein-coupled receptors is regulated by Rab GTPases. Cargo-mediated regulation vesicular transport has received great attention lately. GTPases, forming the largest branch Ras GTPase superfamily, regulate almost every step vesicle-mediated trafficking. GTPases are well-recognized targets human diseases but their mechanisms connecting them to cargo proteins still poorly understood. Herein, we show overexpression/depletion studies HACE1, a HECT...
Previous reports by us and others demonstrated that G protein-coupled receptors interact functionally with Rab GTPases. Here, we show the β(2)-adrenergic receptor (β(2)AR) interacts geranylgeranyltransferase α-subunit (RGGTA). Confocal microscopy showed β(2)AR co-localizes RGGTA in intracellular compartments at plasma membrane. Site-directed mutagenesis revealed binds to L(339)L(340) motif C terminus known be involved transport of from endoplasmic reticulum cell surface. Modulation cellular...
Sigma-1R (S1R) is a ubiquitously distributed protein highly expressed in the brain and liver. It acts as ligand-inducible chaperone localized at endoplasmic reticulum. S1R participates several signaling pathways that oversee diverse cellular neurological functions, such calcium proteome homeostasis, neuronal activity, memory, emotional regulation. Despite its crucial expression profile with respect to age sex remains elusive. To shed light on this matter, we assessed distribution mouse...