The J Domain of Sacsin Disrupts Intermediate Filament Assembly

Autosomal Recessive Spastic Ataxia of the Charlevoix Saguenay (ARSACS) is caused by mutation in the SACS gene resulting in loss of function of the protein sacsin. A key feature is the formation of abnormal bundles of neurofilaments (NF) in neurons and vimentin intermediate filaments (IF) in cultured...

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Veröffentlicht in:	International journal of molecular sciences 2022-12, Vol.23 (24), p.15742
Hauptverfasser:	Dabbaghizadeh, Afrooz, Paré, Alexandre, Cheng-Boivin, Zacharie, Dagher, Robin, Minotti, Sandra, Dicaire, Marie-Josée, Brais, Bernard, Young, Jason C, Durham, Heather D, Gentil, Benoit J
Format:	Artikel
Sprache:	eng
Schlagworte:	Ataxia Autophagy Dismantling Fibroblasts Filaments Heat shock proteins Heat-Shock Proteins - metabolism Homeostasis Hsp40 protein Hsp70 protein Humans Intermediate filaments Intermediate Filaments - metabolism Motor neurons Motor Neurons - metabolism Muscle Spasticity - genetics Muscle Spasticity - metabolism Mutation Myc protein Neurofilaments Neurons Patients Peptides Proteins Quality control Sedimentation & deposition Vimentin Vimentin - genetics Vimentin - metabolism
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