Associated Papers
Sacs R272C missense homozygous mice develop an ataxia phenotype.
Larivière R et al.
Molecular Brain, 2019
Structures of ubiquitin-like (Ubl) and Hsp90-like domains of sacsin provide insight into pathological mutations.
Ménade M et al.
The Journal of Biological Chemistry, 2018
Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family.
Palmio J et al.
Clinical Case Reports, 2016
Structural studies of parkin and sacsin: Mitochondrial dynamics in neurodegenerative diseases.
Li X et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2015
Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.
Romano A et al.
Human Mutation, 2013
The neurodegenerative-disease-related protein sacsin is a molecular chaperone.
Anderson JF et al.
Journal of Molecular Biology, 2011
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.
Bouhlal Y et al.
Parkinsonism & Related Disorders, 2011
The sacsin repeating region (SRR): a novel Hsp90-related supra-domain associated with neurodegeneration.
Anderson JF et al.
Journal of Molecular Biology, 2010
Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene.
Vermeer S et al.
The Journal of Molecular Diagnostics : Jmd, 2009
ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.
Vermeer S et al.
Neurogenetics, 2008
Distinct phenotypes within autosomal recessive ataxias not linked to already known loci.
Bouhlal Y et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2005
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