by ARSACS | Mar 19, 2023 | Latest News
Dr. Paul Chapple’s research article “AlphaFold predicted structure of the Hsp90-like domains of the neurodegeneration linked protein Sacsin reveals key residues for ATPase activity” was published in Frontiers in Molecular Biosciences in January 2023....
by ARSACS | Mar 13, 2023 | Latest News
Gabriel Paquet Desbiens and Olivier Houde launched a huge challenge to raise funds for the Foundation to pursue its mission. These two childhood friends will cycle or run from Baie St-Paul to Ville de la Baie in three days starting September 15. Gabriel is affected by...
by ARSACS | Feb 25, 2023 | Latest News
The Foundation is inviting you to send your research proposal. The research grant could be as high as $100,000 for a 12-month period and with possibility for renewal. The Scientific Advisory Board of the Foundation will evaluate each application. Call for Proposal,...
by ARSACS | Feb 22, 2023 | Latest News
by ARSACS | Feb 18, 2023 | Latest News
For more information, visit the website
by ARSACS | Feb 13, 2023 | Latest News
As part of the Sami Fruits pour les Petits Foundation 2022 Gala, Mr. Flavio Condo, director of the Foundation, presented on February 8 a $50,000 check to Mrs. Sonia Gobeil from the Ataxia Charlevoix-Saguenay Foundation. This amount will directly contribute to the...
by ARSACS | Jan 11, 2023 | Latest News
“Synchrotron Light provides the first clues that ARSACS might involve an altered metallome” according to the research results of Dr. Graham George and his team. This research project entitled “Understanding the role of Metals in ARSACS” was funded jointly by the...
by ARSACS | Dec 14, 2022 | Latest News
On behalf of the persons living with ARSACS, their families and the Foundation, thank you to all of you for your generosity : Mr. Vincent Chiara, Honorary president, sponsors, partners, donors and volunteers. With your support, the Foundation can pursue its mission to...
by ARSACS | Dec 4, 2022 | Current Research
The Krogan Lab researchers are currently performing mechanistic follow-up studies on a subset of the protein-protein interactions they identified. “Our affinity purification mass spectrometry studies on sacsin have revealed a protein-proteininteraction with DAPK...
by ARSACS | Dec 4, 2022 | Latest News
The Krogan Lab researchers are currently performing mechanistic follow-up studies on a subset of the protein-protein interactions they identified. Summary of recent findings.
by ARSACS | Nov 7, 2022 | Latest News
Drs Justin Wolter and Paul Chapple’ s ARSACS research “Multi-omic profiling reveals the ataxia protein sacsinis required for integrin trafficking and synaptic organization” has been published in the Cell Reports on November 1, 2022. Furthermore, the...
by ARSACS | Oct 26, 2022 | Latest News
As part of its mission, the Foundation is financing 15 teams of researchers in Quebec/Canada and internationally for a total amount of $940,000 for 2022-2023. 10 promissing projects whose objective is to discover a treatment for ARSACS. Project description.
by ARSACS | Oct 25, 2022 | Current Research
One of the hallmark features of ARSACS is dysfunction and eventual death of Purkinje cells in the cerebellum, which contributes to ataxia. Strikingly, not all Purkinje cells become ill and die: rather, specific patterns of vulnerability and resilience to cell death...
by ARSACS | Oct 25, 2022 | Current Research
It is well established in neurodegenerative diseases that early therapeutic intervention – ideally before neurodegenerative cascades begin to breakdown neuronal function – is key to the success of disease-modifying therapies. Yet we do not understand the...
by ARSACS | Oct 25, 2022 | Current Research
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...
by ARSACS | Oct 25, 2022 | Current Research
Glial cells play key roles in developmental and neurodegenerative disorders, including some with remarkable similarities with ARSACS, such as Alexander disease and Giant Axonal Neuropathy. We and others have found high levels of sacsin expression in rodent and human...
by ARSACS | Oct 25, 2022 | Current Research
The viability of neurons in the brain depends on a complex series of interconnected biochemical reactions that constitute cellular metabolism. Disruption of these metabolic pathways is associated with neurological conditions, including Alzheimer’s and Parkinson’s....
by ARSACS | Oct 25, 2022 | Current Research
Despite extensive research, the underlying causes of neurodegeneration in ARSACS still remain unclear, and thus there is a need for identifying effective therapies for ARSACS patients. My lab over the past several years has focused on characterizing the changes of...
by ARSACS | Oct 25, 2022 | Current Research
We identified in murine Purkinje cells a specific interaction of sacsin with proteins regulating transmembrane ion balance, which are required for tuning the firing properties of these neurons. Our functional studies support a deregulation of ion conductance in...
by ARSACS | Oct 25, 2022 | Current Research
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a juvenile progressive movement disorder caused by mutations in a gene called SACS, which produces a protein with the same name (SACS or sacsin). The disease is characterized by very early onset,...
