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Article

Structural and functional basis of mechanosensitive TMEM63 channelopathies.

Neuron - 6 Aug 2025

Zheng Wang, Lowry Augustus J, Smith Harper E, Xie Jiale, Rawson Shaun, Wang Chen, Ou Jin, Sotomayor Marcos, Fu Tian-Min, Yang Huanghe, Holt Jeffrey R

Abstract excerpt

TMEM63A, -B, and -C constitute a mammalian family of mechanosensitive ion channels that are mutated in neurodevelopmental disorders. The molecular mechanisms underlying TMEM63 activation by force and the impact of disease-associated mutations have not been clarified. Here, we elucidate the structural and functional bases of a prevalent TMEM63B mutation p.V44M. We first found that TMEM63B p.V44M and the homologous...

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Source

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Identifiers

PMID: 40480214
DOI: 10.1016/j.neuron.2025.05.009
PMCID: PMC12445292

Genes

TMEM63A
TMEM63B

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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