Research plays a vital role in advancing our understanding of ARSACS. Scientists and clinicians around the world are working to uncover its causes, improve care, and explore potential treatments—bringing hope for better outcomes in the future.
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Publications on ARSACS
Dimethyl Fumarate Tested in an ARSACS Mouse Model
Consult the research report by Drs. Justin Wolters and Huaxia Wang on their study of dimethyl fumarate in the ARSACS mouse model. This work was made possible through the financial support of the Ataxia Charlevoix-Saguenay Foundation. Read the report here.
Developing conditional mouse models and new approaches to treating ARSACS – by Dr. Stefan Strack, University of Iowa Carver College of Medicine
Developing conditional mouse models and new approaches to treating ARSACS – by Dr. Stefan Strack, University of Iowa Carver College of Medicine
. This project was funded by the ARSACS Foundation in 2024–2025
Towards glial-targeted therapies of ARSACS – by Drs Herrera/Fernandes/Adams, University of Lisbon / Bilkent University
Towards glial-targeted therapies of ARSACS – by Drs Herrera/Fernandes/Adams, University of Lisbon / Bilkent University
. This project was funded by the ARSACS Foundation in 2022-2023
Retinal pigment epithelium (RPE) cell system to uncover the molecular mechanisms of ARSACS-related retinal defects – by Dr. Daniele Galatolo, IRCCS Fondazione Stella Maris, Pisa, Italy
Retinal pigment epithelium (RPE) cell system to uncover the molecular mechanisms of ARSACS-related retinal defects – by Dr. Daniele Galatolo, IRCCS Fondazione Stella Maris, Pisa, Italy
. This project was funded by the ARSACS Foundation in 2022-2023
Understanding the role of Metals in ARSACS – by Dr. Graham George, University of Saskatchewan
Understanding the role of Metals in ARSACS – by Dr. Graham George, University of Saskatchewan
funded jointly by the Foundation and the Richardson Research Fund in 2020-2021
Biophysical and functional study of Sacsin Trojan fragments as a protein complementation and phenotypic rescue strategy for ARSACS – by Dr. Javier Santos, Buenos Aires University, Argentina
Biophysical and functional study of Sacsin Trojan fragments as a protein complementation and phenotypic rescue strategy for ARSACS – by Dr. Javier Santos, Buenos Aires University, Argentina
. This project was funded by the ARSACS Foundation in 2024–2025
Avatar mouse model of a new genetic variant of ARSACS detected in Uruguay – by Dr. Martina Crispo, Institut Pasteur de Montevideo, Uruguay
Avatar mouse model of a new genetic variant of ARSACS detected in Uruguay – by Dr. Martina Crispo, Institut Pasteur de Montevideo, Uruguay
. This project was funded by the ARSACS Foundation in 2024–2025
Discovery of New ARSACS Modifier Genes in the Saguenay Founder Population – by Dr. Simon Girard, Université du Québec à Chicoutimi, Canada
Discovery of New ARSACS Modifier Genes in the Saguenay Founder Population – by Dr. Simon Girard, Université du Québec à Chicoutimi, Canada
. This project was funded by the ARSACS Foundation in 2023-2024
Charting the neurodevelopmental stage of ARSACS (NeurodevARSACS) – by Drs. Matthis Synofzik, David Mengel and Justin Wolter, University of Tübingen / Wisconsin-Madison
Charting the neurodevelopmental stage of ARSACS (NeurodevARSACS) – by Drs. Matthis Synofzik, David Mengel and Justin Wolter, University of Tübingen / Wisconsin-Madison
. This project was funded by the ARSACS Foundation in 2022-2023
Targeting Transmembrane Ion Balance to Restore Purkinje Cell Functionality in ARSACS – by Dr. F. Maltecca, Ospedale San Raffaele, Milan, Italy
Targeting Transmembrane Ion Balance to Restore Purkinje Cell Functionality in ARSACS – by Dr. F. Maltecca, Ospedale San Raffaele, Milan, Italy
. This project was funded by the ARSACS Foundation in 2022-2023
Identifying Clinically Relevant Compounds and their Molecular Targets Modulating the Neuronal Excitability in ARSACS Patients – by Dr. Mohan Babu, University of Regina
Identifying Clinically Relevant Compounds and their Molecular Targets Modulating the Neuronal Excitability in ARSACS Patients – by Dr. Mohan Babu, University of Regina
. This project was funded by the ARSACS Foundation in 2022-2023
Therapeutic Approaches for ARSACS – by Dr. Benoit Gentil and Dr. Heather Durham, McGill University
Therapeutic Approaches for ARSACS – by Dr. Benoit Gentil and Dr. Heather Durham, McGill University
. This project was funded by the ARSACS Foundation in 2022-2023
Elucidating mechanisms underlying motor coordination rescue in a mouse model of ARSACS – by Dr. Alanna Watt and Dr. Anne McKinney, McGill University
Elucidating mechanisms underlying motor coordination rescue in a mouse model of ARSACS – by Dr. Alanna Watt and Dr. Anne McKinney, McGill University
. This project was funded by the ARSACS Foundation in 2022-2023
Molecular rewiring in cellular models of ARSACS – by Dr. Paul Chapple, Barts and London Queen Mary’s School of Medicine
Molecular rewiring in cellular models of ARSACS – by Dr. Paul Chapple, Barts and London Queen Mary’s School of Medicine
N/A in N/A
Preclinical studies in the Sacs KO mouse model of ARSACS – by Dr. Stefan Strack, University of Iowa, USA
Preclinical studies in the Sacs KO mouse model of ARSACS – by Dr. Stefan Strack, University of Iowa, USA
project funded by the Foundation in 2021-2022
Unravelling defective trans-synaptic signaling in ARSACS – by Dr. Francesca Maltecca, Ospedale San Raffaele, Milan, Italy
Unravelling defective trans-synaptic signaling in ARSACS – by Dr. Francesca Maltecca, Ospedale San Raffaele, Milan, Italy
project funded by the Foundation in 2021-2022
Unraveling the role of glial cells in ARSACS Rationale – by Drs. Federico Herrera, Adelaide Fernandes, and Michelle Adams, University of Lisbon / Bilkent University
Unraveling the role of glial cells in ARSACS Rationale – by Drs. Federico Herrera, Adelaide Fernandes, and Michelle Adams, University of Lisbon / Bilkent University
Project funded by the Foundation in 2022-2023
Effect of neuroprotective molecules dietary supplementation on ARSACS zebrafish model development – by Dr. Valentina Naef, IRCCS Fondazione Stella Maris, Pisa, Italy
Effect of neuroprotective molecules dietary supplementation on ARSACS zebrafish model development – by Dr. Valentina Naef, IRCCS Fondazione Stella Maris, Pisa, Italy
. This project was funded by the ARSACS Foundation in 2022-2023
Creating an Open Science Repository of ARSACS hiPSCs – by Dr. Nicolas Dupré, CHU de Québec-Université Laval
Creating an Open Science Repository of ARSACS hiPSCs – by Dr. Nicolas Dupré, CHU de Québec-Université Laval
funded by the Foundation in 2020-2021
Structural Determination and Super Resolution Imaging of Sacsin – by Dr. Walid Houry, University of Toronto
Structural Determination and Super Resolution Imaging of Sacsin – by Dr. Walid Houry, University of Toronto
funded by the Foundation in 2021-2022
Molecular characterisation of sacsin deficient cells – by Dr. Paul Chapple, Barts and London Queen Mary’s School of Medicine
Molecular characterisation of sacsin deficient cells – by Dr. Paul Chapple, Barts and London Queen Mary’s School of Medicine
funded by the Foundation in 3 year period
Discovery of new targets for therapeutic interventions in ARSACS disease – by Krogan Lab, UCSF
Discovery of new targets for therapeutic interventions in ARSACS disease – by Krogan Lab, UCSF
Project funded by the Foundation in 2020-2021
Towards the Structural Determination of Sacsin – by Dr. Walid Houry, University of Toronto
Towards the Structural Determination of Sacsin – by Dr. Walid Houry, University of Toronto
funded by the Foundation in 2019-2020