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Article

Functional consequences of P/Q-type Ca2+ channel Cav2.1 missense mutations associated with episodic ataxia type 2 and progressive ataxia.

The Journal of biological chemistry - 1 Mar 2002

Wappl Edwin, Koschak Alexandra, Poteser Michael, Sinnegger Martina J, Walter Doris, Eberhart Andreas, Groschner Klaus, Glossmann Hartmut, Kraus Richard L, Grabner Manfred, Striessnig Jörg

Abstract excerpt

We have investigated the functional consequences of three P/Q-type Ca(2+) channel alpha1A (Ca(v)2.1alpha(1)) subunit mutations associated with different forms of ataxia (episodic ataxia type 2 (EA-2), R1279Stop, AY1593/1594D; progressive ataxia (PA), G293R). Mutations were introduced into human a...

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Identifiers

PMID: 11742003
DOI: 10.1074/jbc.M110948200

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11742003-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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