par ARSACS | Août 31, 2024 | Projets de recherche
This project aims to create three-dimensional disease models called ‘organoids’ using induced pluripotent stem cells (iPSCs) from ARSACS patients. Human iPSCs are obtained from individuals’ skin cells by a process known as reprogramming and resemble stem cells present...
par ARSACS | Août 31, 2024 | Projets de recherche
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a non-treatable neurodegenerative genetic disorder of early childhood and adulthood. When first reported in 1978, ARSACS was described as a unique form of ataxia, accompanied with motor speech...
par ARSACS | Août 31, 2024 | Projets de recherche
ARSACS is characterised by the lack of sacsin expression, and the formation of intermediate filaments bundles in neurons and fibroblasts derived from skin biopsies. Our strategy over the last years has been aimed at developing a replacement therapy, by peptide and/or...
par ARSACS | Août 31, 2024 | Projets de recherche
A central theme in cerebellar ataxia is mutations in genes encoding calcium regulatory genes, highlighting the selective vulnerability of Purkinje neurons to alteration of calcium fluxes. We have recently demonstrated that the Voltage-Gated Calcium Channel (VGCC)...
par ARSACS | Août 31, 2024 | Projets de recherche
Mouse models are invaluable for studying disease mechanisms and ultimately treatment. The Sacs knock-out (KO) mouse is a faithful model of ARSACS, displaying ataxia, muscle weakness, cerebellar degeneration, and, as we have recently shown, learning and memory...
par ARSACS | Août 31, 2024 | Projets de recherche
The overall aim of this project is to identify the potential role of DNA methylation changes as biomarker of ARSACS progression. We previously demonstrated that patients affected by ARSACS showed changes in DNA methylation pattern, indicating that epigenetics might...
par ARSACS | Août 31, 2024 | Projets de recherche
A compléter Financement : 213 000$ Durée : 2ième année d’un projet de 2 ans Coordonnées: Dr. Alanna Watt, Department of Biology McGill University, Bellini Life Sciences Bldg., room 2653469 Sir William Osler, Montreal, Quebec Canada H3G 0B1alanna.watt@mcgill.ca...
par ARSACS | Août 31, 2024 | Projets de recherche
Our previous research has shown that the ARSACS protein sacsin is essential for proper trafficking of other proteins to the cell surface. In the absence of sacsin this process is disrupted, which may lead to the aberrant localisation of key neuronal proteins, stopping...
par ARSACS | Août 31, 2024 | Projets de recherche
Our goal is to generate an AVATAR mouse model to reproduce the heterozygous compound alteration of a Uruguayan-child, in South America. Using the CRISPR/Cas technology we will generate a frameshift SACS variant mouse line, reproducing the father’s modification and...
par ARSACS | Août 31, 2024 | Projets de recherche
This project focuses on the production and biophysical characterization of engineered Trojan Sacsin fragments to study protein stability and specific functional features of the protein. Trojan fragments can penetrate human cells allowing us to examine the Sacsin...
par ARSACS | Mar 31, 2024 | Projets de recherche
Autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a relentlessly progressing genetic ataxia with no known treatment. A major mechanism underlies the pathogenesis of ARSACS is mitochondrial dysfunction that causes oxidative stress, resulting in...
