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Article

Miniature release events of glutamate from hippocampal neurons are influenced by the dystonia-associated protein torsinA.

Synapse (New York, N.Y.) - 1 Sept 2012

Kakazu Yasuhiro, Koh Jin-Young, Iwabuchi Sadahiro, Gonzalez-Alegre Pedro, Harata N Charles

Abstract excerpt

TorsinA is an evolutionarily conserved AAA+ ATPase, and human patients with an in-frame deletion of a single glutamate (ΔE) codon from the encoding gene suffer from autosomal-dominant, early-onset generalized DYT1 dystonia. Although only 30-40% of carriers of the mutation show overt motor symptoms, most experience enhanced excitability of the central nervous system. The cellular mechanism responsible for this...

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PMID: 22588999
DOI: 10.1002/syn.21571

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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