Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Current opinion in chemical biology - 1 Dec 2022

Aly Khaled A, Moutaoufik Mohamed Taha, Zilocchi Mara, Phanse Sadhna, Babu Mohan

Abstract excerpt

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare early-onset neurodegenerative disease caused by mutations in the SACS gene, encoding Sacsin. Initial functional annotation of Sacsin was based on sequence homology, with subsequent experiments revealing the Sacsin requirement for regulating mitochondrial dynamics, along with its domains involved in promoting neurofilament assembly or...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Heat-Shock Proteins
Share to Intermediate Filaments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle Spasticity

Share to Mutation

Share to Spinocerebellar Ataxias

Source

Identifiers

PMID: 36126381
DOI: 10.1016/j.cbpa.2022.102211

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Insights into SACS pathological attributes in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)☆.PMID 36126381Read ↗

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 ↗

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 ↗

Integrative Organelle-Based Functional Proteomics: In Silico Prediction of Impaired Functional Annotations in SACS KO Cell Model.Semantic proximity Read ↗

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

Six novel SACS mutations expand the autosomal recessive spastic ataxia of Charlevoix-Saguenay spectrum.Semantic proximity Read ↗

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 ↗

Phenotypical spectrum of SACS variants: Neuromuscular perspective of a complex neurodegenerative disorder.Semantic proximity Read ↗

Six Novel SACS Mutations Expand the Autosomal Recessive Spastic Ataxia of Charlevoix–Saguenay Spectrum: From Classic to Charcot–Marie–Tooth Disease-Mimicking Phenotypes in a Single-Center Japanese CohortSemantic proximity Read ↗

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

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

⌁Select a neighboring publication to make it the new centre.