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Article

Proline-rich transmembrane protein 2 knock-in mice present dopamine-dependent motor deficits.

Journal of biochemistry - 30 Nov 2023

Hatta Daisuke, Kanamoto Kaito, Makiya Shiho, Watanabe Kaori, Kishino Tatsuya, Kinoshita Akira, Yoshiura Koh-Ichiro, Kurotaki Naohiro, Shirotani Keiro, Iwata Nobuhisa

Abstract excerpt

Mutations of proline-rich transmembrane protein 2 (PRRT2) lead to dyskinetic disorders such as paroxysmal kinesigenic dyskinesia (PKD), which is characterized by attacks of involuntary movements precipitated by suddenly initiated motion, and some convulsive disorders. Although previous studies have shown that PKD might be caused by cerebellar dysfunction, PRRT2 has not been sufficiently analyzed in some...

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PMID: 37793168
DOI: 10.1093/jb/mvad074

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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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