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Article

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

The Journal of neuroscience : the official journal of the Society for Neuroscience - 23 Jul 2014

Armbrust Karen R, Wang Xinming, Hathorn Tyisha J, Cramer Samuel W, Chen Gang, Zu Tao, Kangas Takashi, Zink Anastasia N, Öz Gülin, Ebner Timothy J, Ranum Laura P W

Abstract excerpt

Spinocerebellar ataxia type 5 (SCA5), a dominant neurodegenerative disease characterized by profound Purkinje cell loss, is caused by mutations in SPTBN2, a gene that encodes β-III spectrin. SCA5 is the first neurodegenerative disorder reported to be caused by mutations in a cytoskeletal spectrin gene. We have developed a mouse model to understand the mechanistic basis for this disease and show that expression of...

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Source

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Identifiers

PMID: 25057192
DOI: 10.1523/JNEUROSCI.0876-14.2014
PMCID: PMC4107406

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.

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Mutant β-III spectrin causes mGluR1α mislocalization and functional deficits in a mouse model of spinocerebellar ataxia type 5.PMID 25057192Read ↗

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

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Spectrin mutations that cause spinocerebellar ataxia type 5 impair axonal transport and induce neurodegeneration in Drosophila.Semantic proximity Read ↗

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

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β-III-spectrin N-terminus is required for high-affinity actin binding and SCA5 neurotoxicity.Semantic proximity Read ↗

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