Targeting deregulated calcium homeostasis as potential therapeutic option for ARSACS -Dr. Francesca Maltecca

In Current Research, Research in 2019 by ARSACS

The major aims of this project are: 1) to evaluate the functional role of sacsin at the synaptic level, in particular its involvement in the control of calcium fluxes in Purkinje neurons at the postsynaptic space; 2) to strengthen the evidence of efficacy of an off-label drug regulating calcium homeostasis in ARSACS, by conducting a preclinical trial at post- symptomatic …

Is SARM1 a therapeutic target for ARSACS?- Dr. Thomas Schwarz

In Current Research, Research in 2019 by ARSACS

This project uses the sacsin mutant mouse and mice lacking SARM1 to ask whether the progression of the cell loss in ARSACS can be slowed or prevented by removing SARM1. A positive outcome would make ARSACS a strong candidate for this therapeutic strategy. Duration : 18 months Grant: $144,689 Contact: Dr. Thomas L. Schwarz, Professor, F.M. Kirby Neurobiology Center Children’s …

Towards the Structural Determination of Sacsin- Dr. Walid A. Houry

In Current Research, Research in 2019 by ARSACS

Aim 1. Engineering cells with tagged SACS for purification Aim 2. Purification and determination of SACS structure Aim3: To purify and determine the structure of Canadian SACS mutants Duration : 2 year project Grant: $74,000 in year 1Contact: Dr. Walid A. Houry, Department of Biochemistry, Faculty of Medicine, University of Toronto 661 University Avenue Mars Centre, West Tower, Room 1612 Toronto, …

Is ARSACS a Tauopathy?- Dr. Paul Chapple

In Current Research, Research in 2019 by ARSACS

The objectives of the project will be published at a later date Duration: 3 year funded project Grant: 32,827 pounds Contact: Dr.Paul Chapple, Professor of Molecular Cell BiologyCentre for Endocrinology Barts and The London, Queen Mary’s School of Medicine and Dentistry1st Floor North ,John Vane Science Building,Charterhouse SquareLondon, EC1M 6BQT: +44 (0) 20 7882 6242E: j.p.chapple@qmul.ac.uk Interesting, right? Share with your …

Elucidating Mechanisms Underlying Motor Coordination Rescue in a Mouse Model of ARSACS – Dr. Alanna Watt

In Current Research, Research in 2019 by ARSACS

Aim 1 Identifying druggable Targets for potential ARSACS treatment Aim 2 Characterize pathophysiology for future druggable target development Duration : 2nd year of the funded project Grant: $75,000 Contacts: Dr. Alanna Watt,Department of Biology McGill University Bellini Life Sciences Bldg. 3469 Sir William Osler, Montreal, Quebec Canada H3G 0B1 Office: Rm. 265 | Lab: Rm. 257 Tel: (514)-398-2806; Fax: (514)-398-5069; Email: alanna.watt@mcgill.ca …

Elucidating Mechanisms Underlying Motor Coordination Rescue in a Mouse Model of ARSACS – Dr. Anne McKinney

In Current Research, Research in 2019 by ARSACS

Aim 1 Identifying druggable Targets for potential ARSACS treatment Aim 2 Characterize pathophysiology for future druggable target development Duration : 2nd year of the funded project Grant: $50,000 Contact: Dr. Anne McKinney, Department of Pharmacology and Therapeutics, McGill University Bellini Life Sciences Bldg 3469 Sir William Osler, Montreal, Quebec Canada H3G 0B1 Tel: (514)-398-5685; Fax: (514)-398-2045; Email: anne.mckinney@mcgill.ca Interesting, right? Share with …

Sacin’s role in Synapses: Early Pathological Changes in ARSACS- Dr. Bernard Brais

In Current Research, Research in 2019 by ARSACS

Aim 1: Sacsin’s role in dendritic spines morphology Aim 1.1. Assess the impact of sacsin loss on dendritic spines morphology Aim 1.2. Assess the role of sacsin partners on dendritic spine morphology. Aim 1.3. Study spine morphology in Sacs-/- mice. Aim 1.4. Assess the role of sacsin on receptor internalization Grant $100,000 Contact Dr. Bernard Brais, co-director of the neuromuscular group of the Montreal Neurological …

Characterization of Tau Hyperphosphorylation in ARSACS – Dr. Anthony Hickey

In Current Research, Research in 2019 by ARSACS

The goal of this proposal is to validate the misregulation of Tau in ARSACS and establish a platform from which to explore therapeutic targeting of proteins involved in tau pathology as a treatment for ARSACS. Grant : $98,758 Contact: Dr. Anthony Hickey, Director of UNC Catalyst for Rare Diseases, University of North Carolina 120 Mason Farm Road CB# 7356, Chapel …

Optimization of Active Molecules Towards a Pre-Clinical in Vivo Proof of Mechanism of ARSACS Phenotype Reversal – Dr. Michel Bouvier

In Current Research, Research in 2019 by ARSACS

The goal is to develop small molecules that reverse the cellular phenotype of ARSACS into a drug that would stop the progression of the disease and/or lead to clinical improvement. Grant: $160,000 Contact Dr.Michel Bouvier, Institute for Research in Immunology and Cancer (IRIC) IRIC | Université de Montréal C.P. 6128, succursale Centre-ville, Montréal (Québec) H3C 3J7 Tel: (514)-343-6319 ; Email: …

Therapeutic Approaches for ARSACS- Dr. Benoit Gentil

In Current Research, Research in 2019 by ARSACS

To obtain preclinical proof-of-concept for ARSACS treatments based on: 1) a protein/gene replacement approach and  2) drug treatment using HDAC inhibitors. Grant: $100,000 Contact Dr. Benoit Gentil, Department of Kinesiology and Physical Education, McGill University475 Pine Avenue West, room 210, Montreal, Quebec  H3A 2B4 Tel: 514-398-4184 ext 00102  email:benoit.gentil@mcgill.ca Interesting, right? Share with your friends & followers / Intéressant, non? …