[HTML][HTML] Losing the beat: contribution of Purkinje cell firing dysfunction to disease, and its reversal

AA Cook, E Fields, AJ Watt - Neuroscience, 2021 - Elsevier
The cerebellum is a brain structure that is highly interconnected with other brain regions.
There are many contributing factors to cerebellar-related brain disease, such as altered …

[HTML][HTML] Insights into SACS pathological attributes in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)☆

KA Aly, MT Moutaoufik, M Zilocchi, S Phanse… - Current Opinion in …, 2022 - Elsevier
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare early-onset
neurodegenerative disease caused by mutations in the SACS gene, encoding Sacsin. Initial …

Restoring calcium homeostasis in Purkinje cells arrests neurodegeneration and neuroinflammation in the ARSACS mouse model

A Del Bondio, F Longo, D De Ritis, E Spirito… - JCI …, 2023 - pmc.ncbi.nlm.nih.gov
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by
mutations in SACS gene encoding sacsin, a huge protein highly expressed in cerebellar …

Multi-omic profiling reveals the ataxia protein sacsin is required for integrin trafficking and synaptic organization

LEL Romano, WY Aw, KM Hixson, TV Novoselova… - Cell Reports, 2022 - cell.com
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a childhood-onset
cerebellar ataxia caused by mutations in SACS, which encodes the protein sacsin. Cellular …

[HTML][HTML] A mitochondrial-targeted antioxidant (MitoQ) improves motor coordination and reduces Purkinje cell death in a mouse model of ARSACS

BT Márquez, TCS Leung, J Hui, F Charron… - Neurobiology of …, 2023 - Elsevier
Mitochondrial deficits have been observed in animal models of Autosomal-recessive spastic
ataxia of Charlevoix-Saguenay (ARSACS) and in patient-derived fibroblasts. We …

Assessment of sacsin turnover in patients with ARSACS: Implications for molecular diagnosis and pathogenesis

F Longo, D De Ritis, A Miluzio, D Fraticelli, J Baets… - Neurology, 2021 - neurology.org
Background and Objectives Autosomal recessive spastic ataxia of Charlevoix-Saguenay
(ARSACS) is caused by variations in SACS gene encoding sacsin, a huge multimodular …

[HTML][HTML] Efficient neuroprotective rescue of sacsin-related disease phenotypes in zebrafish

V Naef, M Marchese, A Ogi, G Fichi, D Galatolo… - International Journal of …, 2021 - mdpi.com
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a multisystem
hereditary ataxia associated with mutations in SACS, which encodes sacsin, a protein of still …

Homeostatic roles of the proteostasis network in dendrites

EN Lottes, DN Cox - Frontiers in cellular neuroscience, 2020 - frontiersin.org
Cellular protein homeostasis, or proteostasis, is indispensable to the survival and function of
all cells. Distinct from other cell types, neurons are long-lived, exhibiting architecturally …

A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases

G **romerisiou, K Dadouli, C Marogianni… - Journal of Molecular …, 2020 - Springer
ARSACS is an autosomal recessive disorder characterized by ataxia, spasticity, and
polyneuropathy. A plethora of worldwide distributed mutations have been described so far …

An MRI evaluation of white matter involvement in paradigmatic forms of spastic ataxia: results from the multi-center PROSPAX study

A Scaravilli, I Gabusi, G Mari, M Battocchio… - Journal of …, 2024 - Springer
Abstract Background Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
(ARSACS) and Spastic Paraplegia Type 7 (SPG7) are paradigmatic spastic ataxias (SPAX) …