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Article

A gain-of-function mutation in the acid-sensing ion channel 2a induces marked cerebellar maldevelopment in rats.

Biochemical and biophysical research communications - 25 Jun 2022

Shibata Yasuhiro, Kumamoto Natsuko, Sakuma Eisuke, Ishida Yusuke, Ueda Takashi, Shimada Shoichi, Ugawa Shinya

Abstract excerpt

Specific amino acid substitutions in degenerin mechano-gated channels (DEGs) of C. elegans convert these channels into constitutively active mutants that induce the degeneration of neurons where DEGs are expressed. Acid-sensing ion channel-2a (ASIC2a), a proton-gated cation channel predominantly expressed in central neurons, is a mammalian ortholog of DEGs, and it can remain unclosed to be cytotoxic once the same...

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PMID: 35447498
DOI: 10.1016/j.bbrc.2022.04.030

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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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