The Italian Ministry of Health will fund the project “Insight into new therapeutic preclinical strategies in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay type” presented by: Summary of the Project: “Autosomal recessive spastic-ataxia of Charlevoix-Saguenay (ARSACS) is a multisystem hereditary ataxia associated with mutations in SACS, encoding sacsin, a protein whose function is only in part understood. Mutations in SACS impair …
Complete the characterization of Sacsin Interacome and establish how it is modified in disease and by therapeutic compounds – Dr. Bernard Brais and Dr. Eric Shoubridge
Project description to come Duration: one year Grant: $100,000 Contacts: Dr. Bernard Brais, co-director of the neuromuscular group of the Montreal Neurological Institute and Hospital 3801 University Street Montreal, Quebec, Canada H3A 2B4 Tel:(514)-398-3334; Email: bernard.brais@mcgill.ca Dr. Eric Shoubridge, Montreal Neurological Institute and Hospital 3801 University Street Montreal, Quebec, Canada H3A 2B4 Tel: (514)-398-1997; Email: eric.shoubridge@mcgill.ca
Completing the first high-throughput drug screening using an ARSACS fibroblast assay – Dr. Bernard Brais and Dr. Michel Bouvier
Project description to come Duration : One year Grant: $100,000 Contacts: Dr. Bernard Brais, co-director of the neuromuscular group of the Montreal Neurological Institute and Hospital 3801 University Street Montreal, Quebec, Canada H3A 2B4 Tel:(514)-398-3334; Email: bernard.brais@mcgill.ca Dr.Michel Bouuvier, Institute for Research in Immunology and Cancer (IRIC) Université de Montréal | Pavillon Marcelle-Coutu …
Integrated Structural Studies Using Electron Microscopy and Cristallopraphy – Dr Kalle Gehring
Project description to come. Duration: one year Grant: $98,350 Contact: Dr. Kalle Gehring, Professor Department of Biochemistry MCGill University Francesco Bellini Life Sciences Building, 3649 promenade Sir-William-Osler, Office: Room 469; Lab: Room 473, Montreal, Quebec H3G 0B1 Tel:(514)-398-7287; Lab: (514)-398-2873/1496; Fax:(514)-398-2983; Email: kalle.gehring@mcgill.ca
Role of Neurofilaments in the Pathogenic Cascade of ARSACS – Dr. Heather Durham
Project description to come Duration: one year Grant: $100,000 Contact: Dr. Heather Durham, professor McGill University Tel:(514)-398-8509; Email: heather.durham@mcgill.ca
Caractérisation des déficiences musculaires associées aux difficultés à la marche et aux transferts chez les patients atteints de l’ARSACS :de la cellule à la fonction- Dr Luc Hébert
Caractériser les déficiences de force et de contrôle de mouvements volontaires et les limitations d’activité liées à la mobilité; 2) caractériser leurs interrelations; et 3) identifier les variables cliniques qui expliquent le mieux les limitations d’activités telle que la vitesse de marche. Durée: un an Bourse : $73,300 Contact: Dr.Luc Hébert , Chercheur, CIRRIS, Bureau H-1702 . IRDPQ, 525 boulevard Hamel, …
Disrupted Protein Homeostasis in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay- Dr. Paul Chapple
The objectives of the research project are to: 1. Identify the proteostasis systems that are activated in sacsin null cells 2. Identify proteins that are recruited to the aggresome-like structure in sacsin null cells 3. Identify if there is evidence for disruption of proteostasis systems in human ARSACS neurons. Duration: Second year of a three year …
Characterizing and Ameliorating Axonal Transport Defects in ARSACS Mice – Dr. Thomas Schwartz
Project description to come Duration: one year Grant: $74,000USD Contact: Dr. Thomas L. Schwarz, Professor, F.M. Kirby Neurobiology Center Children’s Hospital, Boston and Dept.of Neurobiology Harvard Medical School CLSB 12-130, 3 Blackfan Street, Boston, MA 02115 Tel:(617)-919-2219 (office) or (617)-919-2264 (lab)
Elucidating mechanisms underlying motor coordination rescue in a mouse model of ARSACS – Dr. Alanna Watt and Dr. Anne McKinney.
The McKinney and Watt labs, which are located in close proximity in the Bellini Life Sciences Complex and who already share a mouse colony of ARSACS mice (Sacs-/-) will determine the physiological mode of action of TPS-100 a pharma and aminopyridines on Purkinje cell function, including synaptic input and output. They will work closely together, to elucidate the mechanism of …
Mapping drug-Sacsin interactions and mitochondrial assemblies in ARSACS patient fibroblasts – Dr.Mohan Babu
Aim 1- Mapping GI network of ARSACS-associated SACS target using CRISPR 1.1. Quantitative readout for scoring GIs 1.2. GI validation and benchmarking Aim 2 – Characterizing ARSACS-linked SACS pathways for function discovery Duration: one year Grant: $69,500 Contact: Dr.Mohan Babu, Asst. Professor CIHR New Investigator,Department of Biochemistry University of Regina Saskatchewan SK S4S 0A2 Tel:(306)-585-4192; Email: mohan.babu@uregina.ca
