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Article

Mislocalization of FTD3-associated mutant CHMP2B to the nucleus of human neurons due to loss of a nuclear export signal.

Acta neuropathologica communications - 20 Jan 2026

Jun Yong-Woo, Hass Evan P, Lee Soojin, Fazzio Thomas G, Gao Fen-Biao

Abstract excerpt

Frontotemporal dementia linked to chromosome 3 (FTD3) is caused by a splice site point mutation in CHMP2B, resulting in the production of mutant proteins CHMP2BIn5 and CHMP2BΔ10. Here, we found that wildtype CHMP2B (CHMP2BWT) is mostly present in the cytoplasm, but CHMP2BIn5 is mislocalized to the nucleus of human induced pluripotent stem cell (iPSC)-derived cortical neurons. To understand the underlying...

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Share to Active Transport, Cell Nucleus
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Endosomal Sorting Complexes Required for Transport

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Source

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Identifiers

PMID: 41559796
DOI: 10.1186/s40478-026-02222-0
PMCID: PMC12918131

Genes

CHMP2B
NES

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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