Article

The RNA-binding activity of SACSIN HEPN domain is connected to ARSACS

2025-12-18

Abstract excerpt

Autosomal Recessive Spastic Ataxia of Charlevoix–Saguenay (ARSACS) is a neurodegenerative disorder caused by mutations in the SACS gene, though the molecular function of its protein product, SACSIN, remains elusive. Therapeutic strategies for ARSACS are limited, mostly due to the exceptionally large size of SACSIN (∼520 kDa), which precludes conventional gene therapy and standard molecular delivery methods. Over...

Topics

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

Identifiers and source

Literature Corpus work: 7fae38b7-ce09-5563-93ee-b77f7b5ac3fa
DOI: 10.64898/2025.12.18.694329

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

The RNA-binding activity of SACSIN HEPN domain is connected to ARSACSDOI 10.64898/2025.12.18.694329Read

A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.Semantic proximity Read

Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.Semantic proximity Read

Sacsin cotranslational degradation causes 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

Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridization.Semantic proximity Read

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF.Semantic proximity Read

Autosomal recessive spastic ataxia of Charlevoix-Saguenay caused by novel mutations in SACS gene: A report of two Chinese families.Semantic proximity Read

A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix-Saguenay.Semantic proximity Read

Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.Semantic proximity Read

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

Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay.Semantic proximity Read

A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy.Semantic proximity Read