Article

CK1α, FAM83H, and FAM83B contribute to bundling of neurofilaments and are sequestered in cellular and mice models of ARSACS

2024-10-01

Abstract excerpt

Autosomal recessive spastic ataxia of the Charlevoix-Saguenay (ARSACS) is a rare neurodegenerative disorder characterized by mutations in the SACS gene that encodes for the sacsin protein. Sacsin dysfunction in ARSACS results in neurofilament bundling, a phenotype observed in various cellular models of ARSACS. The mechanisms underlying bundling in ARSACS remain unclear. With neurofilament phosphorylation controll...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 77ca0c12-841f-57c8-a45a-1a88001bdee6
DOI: 10.1101/2024.10.01.616079

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

CK1α, FAM83H, and FAM83B contribute to bundling of neurofilaments and are sequestered in cellular and mice models of ARSACSDOI 10.1101/2024.10.01.616079Read

Insights into SACS pathological attributes in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)☆.Semantic proximity Read

HDAC inhibitor SAHA resolved intermediate filament bundling and defective autophagy caused by the lack of sacsin in ARSACS.Semantic proximity Read

Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsinSemantic proximity Read

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

The ARSACS disease protein sacsin controls lysosomal positioning and reformation by regulating microtubule dynamics.Semantic proximity Read

Subcellular, biochemical and biophysical alterations in two glial cell models of ARSACSSemantic proximity Read

Sacsin cotranslational degradation causes autosomal recessive spastic ataxia of Charlevoix-SaguenaySemantic proximity Read

Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)Semantic proximity Read

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.Semantic proximity Read

The J Domain of Sacsin Disrupts Intermediate Filament Assembly.Semantic proximity Read

Driving mitochondrial fission improves cognitive, but not motor deficits in a mouse model of Ataxia of Charlevoix-SaguenaySemantic proximity Read

Molecular and functional studies of retinal degeneration as a clinical presentation of SACS-related disorder.Semantic proximity Read