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Article

Mutant-specific dysfunction of RHOBTB2 impairs mitochondrial function and Na+/K+-ATPase levels in a cell model.

Biochimica et biophysica acta. Molecular cell research - 1 Mar 2026

Miyamoto Sachiko, Yamashita Shun-Ichi, Belal Hazrat, Kato Mitsuhiro, Kanki Tomotake, Saitsu Hirotomo

Abstract excerpt

RHOBTB2 is an atypical Rho GTPase implicated in developmental and epileptic encephalopathy, yet its pathogenic mechanisms remain poorly understood. In this study, we established a cell model in which RHOBTB2 expression was induced by a doxycycline-inducible system to investigate the functional consequences of disease-associated RHOBTB2 mutants. Protein expression and localization analyses revealed mutant-specific...

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Identifiers

PMID: 41478322
DOI: 10.1016/j.bbamcr.2025.120103

Genes

RHOBTB2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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