ArticleJournal of human genetics2020
De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms.
Article in Journal of human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
28 citing papers in PubMed, 37 citations in OpenAlex.
- Review
- Potential Role of Mitochondria-Associated Endoplasmic Reticulum Membranes (MAMs) Abnormalities in Epileptogenesis: Multimodal Mechanisms and Therapeutic Targets.Molecular neurobiology · 2026Review
- CUL3-Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype.Prenatal diagnosis · 2026Article
- KLHL13 functional defects cause neurodevelopmental disorder in humans that can be rescued via inhibition of AURKB in cellular and animal models.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- Haplotype Construction Using Embryos as Probands of the Pathogenic Variations in EXT1, CUL3, and HBA.Human mutation · 2026Article
- KLHL23 and RhoGDI coordinate CDC42 inactivation ensuring membrane homeostasis.Nature chemical biology · 2025Article
- Article
- Discovery of a NovelMolecular syndromology · 2025Article
- Ubiquitin system mutations in neurological diseases.Trends in biochemical sciences · 2024Review
- Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.Annals of neurology · 2024Article
- Gnao1 is a molecular switch that regulates the Rho signaling pathway in differentiating neurons.Scientific reports · 2024Article
- Neuronal knockdown of Cullin3 as a Drosophila model of autism spectrum disorder.Scientific reports · 2024Article
- Autism risk geneFrontiers in cellular neuroscience · 2024Article
- LZTR1 deficiency exerts high metastatic potential by enhancing sensitivity to EMT induction and controlling KLHL12-mediated collagen secretion.Cell death & disease · 2023Article
- A ubiquitin-based effector-to-inhibitor switch coordinates early brain, craniofacial, and skin development.Nature communications · 2023Article
- Evaluation of Individuals with Non-Syndromic Global Developmental Delay and Intellectual Disability.Children (Basel, Switzerland) · 2023Review
- Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders.Human molecular genetics · 2023Article
- Article
- Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis.Frontiers in genetics · 2023Article
- Current trends of high-risk gene Cul3 in neurodevelopmental disorders.Frontiers in psychiatry · 2023Review
Corrections and comments
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Authors and funding
10 authors at 7 institutions in 3 countries.
Funding
Abstract
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 we describe three cases of global developmental delays, with or without epilepsy, who had de novo CUL3 variants. One missense variant c.854T>C, p.(Val285Ala) and two frameshift variants c.137delG, p.(Arg46Leufs*32) and c.1239del, p.(Asp413Glufs*42) were identified by whole-exome sequencing. The Val285 residue located in the Cullin N-terminal domain and p.Val285Ala CUL3 mutant showed significantly weaker interactions to the BTB domain proteins than wild-type CUL3. Our findings suggest that de novo CUL3 variants may cause structural instability of the CRL complex and impairment of the ubiquitin-proteasome system, leading to diverse neuropsychiatric disorders.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.