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

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

Journal of human genetics - 1 Sept 2020

Nakashima Mitsuko, Kato Mitsuhiro, Matsukura Masaru, Kira Ryutaro, Ngu Lock-Hock, Lichtenbelt Klaske D, van Gassen Koen L I, Mitsuhashi Satomi, Saitsu Hirotomo, Matsumoto Naomichi

Abstract excerpt

The ubiquitin-proteasome system is the principal system for protein degradation mediated by ubiquitination and is involved in various cellular processes. Cullin-RING ligases (CRL) are one class of E3 ubiquitin ligases that mediate polyubiquitination of specific target proteins, leading to decomposition of the substrate. Cullin 3 (CUL3) is a member of the Cullin family proteins, which act as scaffolds of CRL. Here...

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 Developmental Disabilities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Frameshift Mutation

Share to HEK293 Cells

Share to Mutation, Missense

Share to Spasms, Infantile

Share to Ubiquitin-Protein Ligases

Source

Identifiers

PMID: 32341456
DOI: 10.1038/s10038-020-0758-2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms.PMID 32341456Read ↗

Loss-of-function variants in<i>CUL3</i>cause a syndromic neurodevelopmental disorderSemantic proximity Read ↗

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

A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders.Semantic proximity Read ↗

A nonsense mutation in the CUL3 gene in a Chinese patient with autism spectrum disorder and epilepsy: A case report.Semantic proximity Read ↗

A novel stop-gain CUL3 mutation in a Japanese patient with autism spectrum disorder.Semantic proximity Read ↗

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

Laugier-Hunziker syndrome: an important differential diagnosis for Peutz-Jeghers syndrome: Figure 1Semantic proximity Read ↗

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

Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.Semantic proximity Read ↗

Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder.Semantic proximity Read ↗

De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms.Semantic proximity Read ↗

Familial cases of pseudohypoaldosteronism type II harboring a novel mutation in the Cullin 3 gene.Semantic proximity Read ↗

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