Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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 CU...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cullin Proteins
Share to Genetic Diseases, X-Linked
Share to Intellectual Disability

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Neocortex

Share to Proteolysis

Share to TOR Serine-Threonine Kinases

Share to Tuberous Sclerosis Complex 2 Protein

Share to Ubiquitination

Source

Identifiers

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

Genes

TSC2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23348097-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

XLID CUL4B mutants are defective in promoting TSC2 degradation and positively regulating mTOR signaling in neocortical neurons.PMID 23348097Read ↗

CUL4B mutations impair human cortical neurogenesis through PP2A-dependent inhibition of AKT and ERK.Semantic proximity Read ↗

Dominant negative variants in CUL1 of the ubiquitin-proteasome cause a neurodevelopmental syndromeSemantic proximity Read ↗

CUL4B ubiquitin ligase in mouse development: a model for human X-linked mental retardation syndrome?Semantic proximity Read ↗

Essential role of the CUL4B ubiquitin ligase in extra-embryonic tissue development during mouse embryogenesis.Semantic proximity Read ↗

Current trends of high-risk gene Cul3 in neurodevelopmental disordersSemantic proximity Read ↗

Cullin-RING Ubiquitin Ligases in Neurodevelopment and Neurodevelopmental DisordersSemantic proximity Read ↗

WD40 protein FBW5 promotes ubiquitination of tumor suppressor TSC2 by DDB1-CUL4-ROC1 ligase.Semantic proximity Read ↗

De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms.Semantic proximity Read ↗

The Cul3 ubiquitin ligase engages Insomniac as an adaptor to impact sleep and synaptic homeostasisSemantic proximity Read ↗

Tanc2-dependent direct and regulated mTOR inhibition balances mTORC1/2 signaling in developing mouse and human neuronsSemantic proximity Read ↗

Impaired Reelin-Dab1 Signaling Contributes to Neuronal Migration Deficits of Tuberous Sclerosis Complex.Semantic proximity Read ↗

The Cul3 ubiquitin ligase engages Insomniac as an adaptor to impact sleep and synaptic homeostasis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.