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Article

GABA transporter 1 is a promising drug target for CUL4B mutation-associated epilepsy.

Acta pharmacologica Sinica - 1 Jun 2025

Jiang Wei, Ma Yan-Yan, Wang Yu-Feng, Jin Shi-Qi, Yu Rui-Qi, Chu Shu-Xian, Gao Yang-Fan, Wang Mo-Lin, Zou Yong-Xin, Liu Qiao, Song Yu, Zheng Yan, Zhang Chen, Sun Gong-Ping, Jiang Bai-Chun, Gong Yao-Qin

Abstract excerpt

Cullin 4B (CUL4B) is the scaffold protein in the CUL4B-RING E3 ubiquitin ligase (CRL4B) complex. Loss-of-function mutations in the human CUL4B gene result in syndromic X-linked intellectual disability (XLID). In addition to intellectual disability, patients with CUL4B mutations exhibit epilepsy. To date, the mechanism underlying epilepsy associated with CUL4B mutation has not been elucidated. Here, we show that...

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Identifiers

PMID: 39984621
DOI: 10.1038/s41401-025-01490-1
PMCID: PMC12098823

Genes

CUL4B

Provenance

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

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