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

Cerebellar ataxias: β-III spectrin's interactions suggest common pathogenic pathways.

The Journal of physiology - 15 Aug 2016

Perkins Emma, Suminaite Daumante, Jackson Mandy

Abstract excerpt

Spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of disorders all characterised by postural abnormalities, motor deficits and cerebellar degeneration. Animal and in vitro models have revealed β-III spectrin, a cytoskeletal protein present throughout the soma and dendritic tree of cerebellar Purkinje cells, to be required for the maintenance of dendritic architecture and for the trafficking...

Read the complete abstract on PubMed

Topics

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

Share to Cerebellar Ataxia
Share to Cognitive Dysfunction
Share to Erythrocyte Function and Pathophysiology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Neurodegenerative Diseases

Share to Ion channel regulation and function

Share to Mutation

Share to Spectrin

Source

Open in PubMed Open full text

Identifiers

PMID: 26821241
DOI: 10.1113/JP271195
PMCID: PMC4983618

Genes

SPTBN2

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

Cerebellar ataxias: β-III spectrin's interactions suggest common pathogenic pathways.PMID 26821241Read ↗

β-III spectrin underpins ankyrin R function in Purkinje cell dendritic trees: protein complex critical for sodium channel activity is impaired by SCA5-associated mutations.Semantic proximity Read ↗

Loss of β-III Spectrin Leads to Purkinje Cell Dysfunction Recapitulating the Behavior and Neuropathology of Spinocerebellar Ataxia Type 5 in HumansSemantic proximity Read ↗

Targeted deletion of betaIII spectrin impairs synaptogenesis and generates ataxic and seizure phenotypes.Semantic proximity Read ↗

Mutant β-III spectrin causes mGluR1α mislocalization and functional deficits in a mouse model of spinocerebellar ataxia type 5.Semantic proximity Read ↗

Impaired motor activity in a CRISPR SCA5 L253P knock-in mouse is associated with selective β-III-spectrin subcellular redistribution in the cerebellumSemantic proximity Read ↗

β-III Spectrin Is Critical for Development of Purkinje Cell Dendritic Tree and Spine MorphogenesisSemantic proximity Read ↗

Spinocerebellar ataxia type 5.Semantic proximity Read ↗

Posterior cerebellar Purkinje cells in an SCA5/SPARCA1 mouse model are especially vulnerable to the synergistic effect of loss of β-III spectrin and GLAST.Semantic proximity Read ↗

Spectrins: molecular organizers and targets of neurological disordersSemantic proximity Read ↗

Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development.Semantic proximity Read ↗

Spectrin mutations in spinocerebellar ataxia (SCA).Semantic proximity Read ↗

Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration.Semantic proximity Read ↗

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