Article

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

2024-04-10

Abstract excerpt

<title>Abstract</title><p>Autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by loss-of-function mutation in the<italic>SACS</italic>gene, which encodes sacsin, a putative HSP70-HSP90 co-chaperone. Previous studies with<italic>Sacs</italic>knock-out (KO) mice and patient-derived fibroblasts suggested that<italic>SACSIN</italic>mutations inhibit the function of the mitochondrial fission en...

Topics

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

Identifiers and source

Literature Corpus work: 80153b32-590b-50d4-bd3d-13ad7a0a7034
DOI: 10.21203/rs.3.rs-4178088/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Driving mitochondrial fission improves cognitive, but not motor deficits in a mouse model of Ataxia of Charlevoix-SaguenayDOI 10.21203/rs.3.rs-4178088/v1Read

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

A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix SaguenaySemantic proximity Read

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

ARSACS: Clinical Features, Pathophysiology and iPS-Derived Models.Semantic proximity Read

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

Inhibiting mitochondrial fission rescues degeneration in hereditary spastic paraplegia neurons.Semantic proximity Read

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

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

Alternating hemiplegia of childhood associated mutations in <i>Atp1a3</i> reveal diverse neurological alterations in miceSemantic proximity Read

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

Transgenic rescue of phenotypic deficits in a mouse model of alternating hemiplegia of childhood.Semantic proximity Read

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