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Article

XLID CUL4B mutants are defective in promoting TSC2 degradation and positively regulating mTOR signaling in neocortical neurons.

Biochimica et biophysica acta - 1 Apr 2013

Wang Hung-Li, Chang Ning-Chun, Weng Yi-Hsin, Yeh Tu-Hsueh

Abstract excerpt

Truncating or missense mutation of cullin 4B (CUL4B) is one of the most prevalent causes underlying X-linked intellectual disability (XLID). CUL4B-RING E3 ubiquitin ligase promotes ubiquitination and degradation of various proteins. Consistent with previous studies, overexpression of wild-type CUL4B in 293 cells enhanced ubiquitylation and degradation of TSC2 or cyclin E. The present study shows that XLID mutant...

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Source

Identifiers

PMID: 23348097
DOI: 10.1016/j.bbadis.2013.01.010

Genes

TSC2

Variants

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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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