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Article

The ataxia3 mutation in the N-terminal cytoplasmic domain of sodium channel Na(v)1.6 disrupts intracellular trafficking.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 4 Mar 2009

Sharkey Lisa M, Cheng Xiaoyang, Drews Valerie, Buchner David A, Jones Julie M, Justice Monica J, Waxman Stephen G, Dib-Hajj Sulayman D, Meisler Miriam H

Abstract excerpt

The ENU-induced neurological mutant ataxia3 was mapped to distal mouse chromosome 15. Sequencing of the positional candidate gene Scn8a encoding the sodium channel Na(v)1.6 identified a T>C transition in exon 1 resulting in the amino acid substitution p.S21P near the N terminus of the channel. The cytoplasmic N-terminal region is evolutionarily conserved but its function has not been well characterized. ataxia3...

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Identifiers

PMID: 19261867
DOI: 10.1523/JNEUROSCI.6026-08.2009
PMCID: PMC2679640

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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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