Research graph
References from E3 Ubiquitin Ligases in Neurodevelopmental Disorders. Local targets link to admitted publications; unresolved targets remain external evidence.
Neurodevelopmental Disorders: From Genetics to Functional Pathways
10.1016/j.tins.2020.05.004 · 2020 · External reference
The Cellular and Molecular Landscapes of the Developing Human Central Nervous System
10.1016/j.neuron.2015.12.008 · 2016 · External reference
10.1038/nature21062
10.1038/nature21062 · External reference
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes
10.1038/s41588-022-01148-2 · 2022 · External reference
Genetic subtypes, allelic effects, and convergent neurodevelopmental mechanisms
10.1186/s13073-021-00913-y · 2021 · External reference
The ubiquitin code
10.1146/annurev-biochem-060310-170328 · 2012 · External reference
The ubiquitin-proteasome pathway in health and disease of the nervous system
10.1016/j.tins.2007.08.005 · 2007 · External reference
The ubiquitin-proteasome system as a critical regulator of synaptic plasticity and long-term memory formation
10.1016/j.nlm.2013.03.009 · 2013 · External reference
10.3389/fcell.2025.1557653
10.3389/fcell.2025.1557653 · External reference
Genetic advances in neurodevelopmental disorders
10.1515/mr-2024-0040 · 2025 · External reference
10.3389/fnmol.2021.733012
10.3389/fnmol.2021.733012 · External reference
E3 ubiquitin ligases and cerebral cortex development in health and disease
10.1002/dneu.22877 · 2022 · External reference
Ubiquitin system mutations in neurological diseases
10.1016/j.tibs.2024.06.011 · 2024 · External reference
10.20944/preprints202503.0542.v1
10.20944/preprints202503.0542.v1 · External reference
10.20944/preprints202605.1078.v1
10.20944/preprints202605.1078.v1 · External reference
Clinical and Genetic Profiles of 11 Chinese Patients with Angelman Syndrome
10.1155/genr/5593007 · 2025 · External reference
Angelman syndrome—Insights into a rare neurogenetic disorder
10.1038/nrneurol.2016.133 · 2016 · External reference
A Case Study of Early Diagnosed Angelman Syndrome: Recognizing Atypical Clinical Presentations
2023 · External reference
Developmental milestones and daily living skills in individuals with Angelman syndrome
10.1186/s11689-024-09548-7 · 2024 · External reference
Age-Related Trajectories of Autistic Traits in Children with Angelman Syndrome
10.1002/aur.70017 · 2025 · External reference
Association between sleep disturbances and challenging behavior in children and adolescents with Angelman syndrome
2024 · External reference
A novel variant in UBE3A in a family with multigenerational intellectual disability and developmental delay
10.1002/mgg3.1883 · 2022 · External reference
Angelman syndrome-derived neurons display late onset of paternal UBE3A silencing
10.1038/srep30792 · 2016 · External reference
Allelic specificity of Ube3a expression in the mouse brain during postnatal development
10.1002/cne.23507 · 2014 · External reference
10.3389/fnana.2024.1410791
10.3389/fnana.2024.1410791 · External reference
Abnormal sleep physiology in children with 15q11.2-13.1 duplication (Dup15q) syndrome
10.1186/s13229-021-00460-8 · 2021 · External reference
Sleep EEG signatures in mouse models of 15q11.2-13.1 duplication (Dup15q) syndrome
10.1186/s11689-024-09556-7 · 2024 · External reference
Autism and intellectual disability due to a novel gain-of-function mutation in UBE3A
10.1038/s10038-025-01343-z · 2025 · External reference
Autism-linked UBE3A gain-of-function mutation causes interneuron and behavioral phenotypes when inherited maternally or paternally in mice
10.1016/j.celrep.2023.112706 · 2023 · External reference
The gain-of-function UBE3AQ588E variant causes Angelman-like neurodevelopmental phenotypes in mice
10.1038/s41598-025-92511-w · 2025 · External reference
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation
10.1016/j.ajhg.2007.11.002 · 2008 · External reference
HUWE1 variants cause dominant X-linked intellectual disability: A clinical study of 21 patients
10.1038/s41431-017-0038-6 · 2018 · External reference
35 Individuals with HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical Evaluations
10.1002/ajmg.a.70127 · 2026 · External reference
The HECT-domain ubiquitin ligase Huwe1 controls neural differentiation and proliferation by destabilizing the N-Myc oncoprotein
10.1038/ncb1727 · 2008 · External reference
Increased p53 signaling impairs neural differentiation in HUWE1-promoted intellectual disabilities
10.1016/j.xcrm.2021.100240 · 2021 · External reference
Regulation of primary cilia disassembly through HUWE1-mediated TTBK2 degradation plays a crucial role in cerebellar development and medulloblastoma growth
10.1038/s41418-024-01325-2 · 2024 · External reference
De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms
10.1038/s10038-020-0758-2 · 2020 · External reference
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder
10.1002/ana.27077 · 2025 · External reference
CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature
2024 · External reference
A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders
10.1038/s10038-020-00868-9 · 2021 · External reference
Function and regulation of cullin-RING ubiquitin ligases
10.1038/nrm1547 · 2005 · External reference
Autism-linked Cullin3 germline haploinsufficiency impacts cytoskeletal dynamics and cortical neurogenesis through RhoA signaling
10.1038/s41380-021-01052-x · 2021 · External reference
Cul3 regulates cytoskeleton protein homeostasis and cell migration during a critical window of brain development
10.1038/s41467-021-23123-x · 2021 · External reference
Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor
10.1086/511134 · 2007 · External reference
Variants in CUL4B are associated with cerebral malformations
10.1002/humu.22718 · 2015 · External reference
X-linked mental retardation gene CUL4B targets ubiquitylation of H3K4 methyltransferase component WDR5 and regulates neuronal gene expression
10.1016/j.molcel.2011.05.033 · 2011 · External reference
CUL4B mutations impair human cortical neurogenesis through PP2A-dependent inhibition of AKT and ERK
10.1038/s41419-024-06501-3 · 2024 · External reference
The X-linked intellectual disability gene CUL4B is critical for memory and synaptic function
10.1186/s40478-024-01903-y · 2024 · External reference
GABA transporter 1 is a promising drug target for CUL4B mutation-associated epilepsy
10.1038/s41401-025-01490-1 · 2025 · External reference
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia
10.1136/jmedgenet-2016-103943 · 2017 · External reference
Association of HECW2 variants with developmental and epileptic encephalopathy and knockdown of zebrafish hecw2a
10.1002/ajmg.a.61958 · 2021 · External reference
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders
10.1136/jmedgenet-2021-107871 · 2022 · External reference
A novel HECT-type E3 ubiquitin ligase, NEDL2, stabilizes p73 and enhances its transcriptional activity
10.1016/s0006-291x(03)01347-0 · 2003 · External reference
Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism
10.1007/s00439-016-1743-x · 2017 · External reference
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features
10.1007/s00439-017-1763-1 · 2017 · External reference
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
10.1038/s41431-023-01307-x · 2023 · External reference
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations
10.1007/s00439-014-1436-2 · 2014 · External reference
Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome
10.1136/jmedgenet-2012-101405 · 2013 · External reference
Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients
10.1002/ajmg.a.38538 · 2018 · External reference
Novel UBE3B mutations: Report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population
10.1097/mcd.0000000000000486 · 2024 · External reference
The murine ortholog of Kaufman oculocerebrofacial syndrome protein Ube3b regulates synapse number by ubiquitinating Ppp3cc
10.1038/s41380-020-0714-8 · 2021 · External reference
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability
10.1016/j.ajhg.2024.11.009 · 2025 · External reference
UBR5 loss-of-function variants in autism spectrum disorder and intellectual disability: Case series and review of the literature
10.1038/s41525-025-00536-x · 2025 · External reference
UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism
10.1016/j.ajhg.2020.11.018 · 2021 · External reference
Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia
10.1038/ng.3676 · 2016 · External reference
Ophthalmic Findings Associated with NEDD4L-related Disorder
10.1016/j.jaapos.2022.02.012 · 2022 · External reference
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila
10.1016/j.ajhg.2017.11.008 · 2018 · External reference
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders
10.1016/j.gim.2023.100885 · 2023 · External reference
Deregulated ion channels contribute to RHOBTB2-associated developmental and epileptic encephalopathy
10.1093/hmg/ddae183 · 2025 · External reference
De novo missense variants in FBXO11 alter its protein expression and subcellular localization
10.1093/hmg/ddab265 · 2022 · External reference
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
10.1016/j.ajhg.2022.03.002 · 2022 · External reference
Expanding clinical variability in FBXW7-related neurodevelopmental disorder: A multicenter case series
10.1186/s11689-026-09705-0 · 2026 · External reference
The molecular principles of gene regulation by Polycomb repressive complexes
10.1038/s41580-021-00398-y · 2021 · External reference
Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features
10.1093/hmg/ddab110 · 2021 · External reference
RING1 missense variants reveal sensitivity of DNA damage repair to H2A monoubiquitination dosage during neurogenesis
10.1038/s41467-024-52292-8 · 2024 · External reference
Unbalanced chromatin binding of Polycomb complexes drives neurodevelopmental disorders
10.1016/j.molcel.2026.01.023 · 2026 · External reference
IRF2BPL-Related Disorder, Causing Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) Is Characterized by Pathology Consistent with DRPLA
10.1002/mds.29938 · 2024 · External reference
Clinical and genetic spectrum of patients with IRF2BPL syndrome
10.1038/s10038-025-01316-2 · 2025 · External reference
The Gene Ontology knowledgebase in 2023
10.1093/genetics/iyad031 · 2023 · External reference
g:Profiler-interoperable web service for functional enrichment analysis and gene identifier mapping (2023 update)
10.1093/nar/gkad347 · 2023 · External reference
10.1186/1471-2202-13-112
10.1186/1471-2202-13-112 · External reference
The CUL4B-based E3 ubiquitin ligase regulates mitosis and brain development by recruiting phospho-specific DCAFs
10.15252/embj.2022112847 · 2023 · External reference
The N-Myc-DLL3 cascade is suppressed by the ubiquitin ligase Huwe1 to inhibit proliferation and promote neurogenesis in the developing brain
10.1016/j.devcel.2009.07.009 · 2009 · External reference
10.1371/journal.pone.0020397
10.1371/journal.pone.0020397 · External reference
Cell migration promotes dynamic cellular interactions to control cerebral cortex morphogenesis
10.1038/s41583-019-0148-y · 2019 · External reference
Bacurd1/Kctd13 and Bacurd2/Tnfaip1 are interacting partners to Rnd proteins which influence the long-term positioning and dendritic maturation of cerebral cortical neurons
10.1186/s13064-016-0062-1 · 2016 · External reference
Bacurd2 is a novel interacting partner to Rnd2 which controls radial migration within the developing mammalian cerebral cortex
10.1186/s13064-015-0032-z · 2015 · External reference
Spatiotemporal 16p11.2 protein network implicates cortical late mid-fetal brain development and KCTD13-Cul3-RhoA pathway in psychiatric diseases
10.1016/j.neuron.2015.01.010 · 2015 · External reference
The E3 Ubiquitin Ligase TRIM9 Is a Filopodia Off Switch Required for Netrin-Dependent Axon Guidance
10.1016/j.devcel.2015.11.022 · 2015 · External reference
A pair of E3 ubiquitin ligases compete to regulate filopodial dynamics and axon guidance
10.1083/jcb.201902088 · 2020 · External reference
ZNRF1 promotes Wallerian degeneration by degrading AKT to induce GSK3B-dependent CRMP2 phosphorylation
10.1038/ncb2373 · 2011 · External reference
Mechanisms Underlying Circuit Dysfunction in Neurodevelopmental Disorders
10.1146/annurev-genet-072820-023642 · 2022 · External reference
UBE3A Regulates Synaptic Plasticity and Learning and Memory by Controlling SK2 Channel Endocytosis
10.1016/j.celrep.2015.06.023 · 2015 · External reference
Lack of UBE3A-Mediated Regulation of Synaptic SK2 Channels Contributes to Learning and Memory Impairment in the Female Mouse Model of Angelman Syndrome
10.1155/2022/3923384 · 2022 · External reference
Activity-dependent degradation of Kv4.2 contributes to synaptic plasticity and behavior in Angelman syndrome model mice
10.1016/j.celrep.2025.115583 · 2025 · External reference
Mono-ubiquitination of Rabphilin 3A by UBE3A serves a non-degradative function
10.1038/s41598-021-82319-9 · 2021 · External reference
The Ubiquitin E3 Ligase UBE3A Regulates GRIPAP1 and PACSIN1 Proteins Linked to the Endocytic Recycling of AMPA Receptors
10.1080/10985549.2025.2470431 · 2025 · External reference
Presynaptic Ube3a E3 ligase promotes synapse elimination through down-regulation of BMP signaling
10.1126/science.ade8978 · 2023 · External reference
The role of GABAergic signalling in neurodevelopmental disorders
10.1038/s41583-021-00443-x · 2021 · External reference
CUL3 Deficiency Causes Social Deficits and Anxiety-like Behaviors by Impairing Excitation-Inhibition Balance through the Promotion of Cap-Dependent Translation
10.1016/j.neuron.2019.10.035 · 2019 · External reference
Behavioral, circuitry, and molecular aberrations by region-specific deficiency of the high-risk autism gene Cul3
10.1038/s41380-019-0498-x · 2021 · External reference
The E3 Ubiquitin Ligase UBE3B Regulates Synaptic Development and Cortical Network Activity
10.1002/aur.70229 · 2026 · External reference
A cross-species spatiotemporal proteomic analysis identifies UBE3A-dependent signaling pathways and targets
10.1038/s41380-022-01484-z · 2022 · External reference
1H-NMR-based metabolomics reveals metabolic alterations in early development of a mouse model of Angelman syndrome
10.1186/s13229-024-00608-2 · 2024 · External reference
The Angelman syndrome protein Ube3a/E6AP is required for Golgi acidification and surface protein sialylation
10.1523/jneurosci.1930-11.2013 · 2013 · External reference
Secreted retrovirus-like GAG-domain-containing protein PEG10 is regulated by UBE3A and is involved in Angelman syndrome pathophysiology
10.1016/j.xcrm.2021.100360 · 2021 · External reference
UBQLN2 is necessary for UBE3A-mediated proteasomal degradation of the domesticated retroelement PEG10
10.1242/jcs.264105 · 2025 · External reference
Extracellular vesicle dysfunction contributes to synaptic and cognitive deficits in a mouse model of Angelman syndrome
10.1016/j.pneurobio.2025.102870 · 2026 · External reference
Identification of UBE3A Protein in CSF and Extracellular Space of the Hippocampus Suggest a Potential Novel Function in Synaptic Plasticity
10.1002/aur.2475 · 2021 · External reference
UBE3A deficiency-induced autophagy is associated with activation of AMPK-ULK1 and p53 pathways
10.1016/j.expneurol.2023.114358 · 2023 · External reference
Regulation of purine metabolism connects KCTD13 to a metabolic disorder with autistic features
10.1016/j.isci.2020.101935 · 2021 · External reference
APC7 mediates ubiquitin signaling in constitutive heterochromatin in the developing mammalian brain
10.1016/j.molcel.2021.11.031 · 2022 · External reference
The X-linked intellectual disability gene product and E3 ubiquitin ligase KLHL15 degrades doublecortin proteins to constrain neuronal dendritogenesis
10.1074/jbc.ra120.016210 · 2021 · External reference
Ubiquitin ligase TRIM32 promotes dendrite arborization by mediating degradation of the epigenetic factor CDYL
10.1096/fj.202100031rr · 2022 · External reference
The CRL3(gigaxonin) ubiquitin ligase-USP15 pathway governs the destruction of neurofilament proteins
10.1073/pnas.2306395120 · 2023 · External reference
Towards a therapy for Angelman syndrome by targeting a long non-coding RNA
10.1038/nature13975 · 2015 · External reference
Antisense oligonucleotide treatment rescues UBE3A expression and multiple phenotypes of an Angelman syndrome mouse model
10.1172/jci.insight.145991 · 2021 · External reference
Angelman syndrome patient-derived neuron screen leads to clinical ASO rugonersen targeting UBE3A-ATS with long-lasting effect in monkeys
10.1093/nar/gkaf851 · 2025 · External reference
The UBE3A-ATS antisense oligonucleotide rugonersen in children with Angelman syndrome: A phase 1 trial
10.1038/s41591-025-03784-7 · 2025 · External reference
A xenotransplantation model for reactivation of paternal UBE3A using human-specific antisense oligonucleotides
10.1038/s41598-026-41197-9 · 2026 · External reference
Prenatal delivery of a therapeutic antisense oligonucleotide achieves broad biodistribution in the brain and ameliorates Angelman syndrome phenotype in mice
10.1016/j.ymthe.2024.02.004 · 2024 · External reference
Longitudinal EEG model detects antisense oligonucleotide treatment effect and increased UBE3A in Angelman syndrome
10.1093/braincomms/fcac106 · 2022 · External reference
UBE3A reinstatement restores behavior and proteome in an Angelman syndrome mouse model of imprinting defects
10.1186/s13229-025-00675-z · 2025 · External reference
A de novo genome assembly of an Angelman syndrome pig (Sus scrofa domesticus) model to resolve SNHG14
10.1093/jhered/esag019 · 2026 · External reference
AAV-dCas9 vector unsilences paternal Ube3a in neurons by impeding Ube3a-ATS transcription
10.1038/s42003-025-08794-2 · 2025 · External reference
Multi-targeting zinc finger nuclease vector unsilences paternal UBE3A in a mouse model of Angelman syndrome
10.1038/s41434-025-00582-1 · 2026 · External reference
Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons
10.1038/nature10726 · 2011 · External reference
R-loop formation at Snord116 mediates topotecan inhibition of Ube3a-antisense and allele-specific chromatin decondensation
10.1073/pnas.1305426110 · 2013 · External reference
UBE3A stabilization of beta-catenin preserves synaptic proteins essential for motor and cognitive functions in Angelman Syndrome
10.1186/s13229-025-00690-0 · 2025 · External reference
A high sensitivity assay of UBE3A ubiquitin ligase activity
10.1016/j.ymeth.2025.02.002 · 2025 · External reference
A luminescence-based biosensor to measure endogenous UBE3A activity
10.1016/j.isci.2025.113684 · 2025 · External reference
10.3791/64454-v
10.3791/64454-v · External reference
10.3389/fcell.2025.1665693
10.3389/fcell.2025.1665693 · External reference
A dual-reporter mouse for therapeutic discovery in Angelman syndrome
10.1172/jci.insight.197028 · 2026 · External reference
Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients
10.1002/ajmg.a.38538 · ExternalCitation · doi-reference
Association of HECW2 variants with developmental and epileptic encephalopathy and knockdown of zebrafish hecw2a
10.1002/ajmg.a.61958 · ExternalCitation · doi-reference
35 Individuals with HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical Evaluations
10.1002/ajmg.a.70127 · ExternalCitation · doi-reference
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder
10.1002/ana.27077 · ExternalCitation · doi-reference
Identification of UBE3A Protein in CSF and Extracellular Space of the Hippocampus Suggest a Potential Novel Function in Synaptic Plasticity
10.1002/aur.2475 · ExternalCitation · doi-reference
Age-Related Trajectories of Autistic Traits in Children with Angelman Syndrome
10.1002/aur.70017 · ExternalCitation · doi-reference
The E3 Ubiquitin Ligase UBE3B Regulates Synaptic Development and Cortical Network Activity
10.1002/aur.70229 · ExternalCitation · doi-reference
Allelic specificity of Ube3a expression in the mouse brain during postnatal development
10.1002/cne.23507 · ExternalCitation · doi-reference
E3 ubiquitin ligases and cerebral cortex development in health and disease
10.1002/dneu.22877 · ExternalCitation · doi-reference
Variants in CUL4B are associated with cerebral malformations
10.1002/humu.22718 · ExternalCitation · doi-reference
IRF2BPL-Related Disorder, Causing Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) Is Characterized by Pathology Consistent with DRPLA
10.1002/mds.29938 · ExternalCitation · doi-reference
A novel variant in UBE3A in a family with multigenerational intellectual disability and developmental delay
10.1002/mgg3.1883 · ExternalCitation · doi-reference
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations
10.1007/s00439-014-1436-2 · ExternalCitation · doi-reference
Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism
10.1007/s00439-016-1743-x · ExternalCitation · doi-reference
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features
10.1007/s00439-017-1763-1 · ExternalCitation · doi-reference
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation
10.1016/j.ajhg.2007.11.002 · ExternalCitation · doi-reference
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila
10.1016/j.ajhg.2017.11.008 · ExternalCitation · doi-reference
UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism
10.1016/j.ajhg.2020.11.018 · ExternalCitation · doi-reference
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
10.1016/j.ajhg.2022.03.002 · ExternalCitation · doi-reference
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability
10.1016/j.ajhg.2024.11.009 · ExternalCitation · doi-reference
UBE3A Regulates Synaptic Plasticity and Learning and Memory by Controlling SK2 Channel Endocytosis
10.1016/j.celrep.2015.06.023 · ExternalCitation · doi-reference
Autism-linked UBE3A gain-of-function mutation causes interneuron and behavioral phenotypes when inherited maternally or paternally in mice
10.1016/j.celrep.2023.112706 · ExternalCitation · doi-reference
Activity-dependent degradation of Kv4.2 contributes to synaptic plasticity and behavior in Angelman syndrome model mice
10.1016/j.celrep.2025.115583 · ExternalCitation · doi-reference
The N-Myc-DLL3 cascade is suppressed by the ubiquitin ligase Huwe1 to inhibit proliferation and promote neurogenesis in the developing brain
10.1016/j.devcel.2009.07.009 · ExternalCitation · doi-reference
The E3 Ubiquitin Ligase TRIM9 Is a Filopodia Off Switch Required for Netrin-Dependent Axon Guidance
10.1016/j.devcel.2015.11.022 · ExternalCitation · doi-reference
UBE3A deficiency-induced autophagy is associated with activation of AMPK-ULK1 and p53 pathways
10.1016/j.expneurol.2023.114358 · ExternalCitation · doi-reference
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders
10.1016/j.gim.2023.100885 · ExternalCitation · doi-reference
Regulation of purine metabolism connects KCTD13 to a metabolic disorder with autistic features
10.1016/j.isci.2020.101935 · ExternalCitation · doi-reference
A luminescence-based biosensor to measure endogenous UBE3A activity
10.1016/j.isci.2025.113684 · ExternalCitation · doi-reference
Ophthalmic Findings Associated with NEDD4L-related Disorder
10.1016/j.jaapos.2022.02.012 · ExternalCitation · doi-reference
X-linked mental retardation gene CUL4B targets ubiquitylation of H3K4 methyltransferase component WDR5 and regulates neuronal gene expression
10.1016/j.molcel.2011.05.033 · ExternalCitation · doi-reference
APC7 mediates ubiquitin signaling in constitutive heterochromatin in the developing mammalian brain
10.1016/j.molcel.2021.11.031 · ExternalCitation · doi-reference
Unbalanced chromatin binding of Polycomb complexes drives neurodevelopmental disorders
10.1016/j.molcel.2026.01.023 · ExternalCitation · doi-reference
Spatiotemporal 16p11.2 protein network implicates cortical late mid-fetal brain development and KCTD13-Cul3-RhoA pathway in psychiatric diseases
10.1016/j.neuron.2015.01.010 · ExternalCitation · doi-reference
The Cellular and Molecular Landscapes of the Developing Human Central Nervous System
10.1016/j.neuron.2015.12.008 · ExternalCitation · doi-reference
CUL3 Deficiency Causes Social Deficits and Anxiety-like Behaviors by Impairing Excitation-Inhibition Balance through the Promotion of Cap-Dependent Translation
10.1016/j.neuron.2019.10.035 · ExternalCitation · doi-reference
The ubiquitin-proteasome system as a critical regulator of synaptic plasticity and long-term memory formation
10.1016/j.nlm.2013.03.009 · ExternalCitation · doi-reference
Extracellular vesicle dysfunction contributes to synaptic and cognitive deficits in a mouse model of Angelman syndrome
10.1016/j.pneurobio.2025.102870 · ExternalCitation · doi-reference
Ubiquitin system mutations in neurological diseases
10.1016/j.tibs.2024.06.011 · ExternalCitation · doi-reference
The ubiquitin-proteasome pathway in health and disease of the nervous system
10.1016/j.tins.2007.08.005 · ExternalCitation · doi-reference
Neurodevelopmental Disorders: From Genetics to Functional Pathways
10.1016/j.tins.2020.05.004 · ExternalCitation · doi-reference
Increased p53 signaling impairs neural differentiation in HUWE1-promoted intellectual disabilities
10.1016/j.xcrm.2021.100240 · ExternalCitation · doi-reference
Secreted retrovirus-like GAG-domain-containing protein PEG10 is regulated by UBE3A and is involved in Angelman syndrome pathophysiology
10.1016/j.xcrm.2021.100360 · ExternalCitation · doi-reference
A high sensitivity assay of UBE3A ubiquitin ligase activity
10.1016/j.ymeth.2025.02.002 · ExternalCitation · doi-reference
Prenatal delivery of a therapeutic antisense oligonucleotide achieves broad biodistribution in the brain and ameliorates Angelman syndrome phenotype in mice
10.1016/j.ymthe.2024.02.004 · ExternalCitation · doi-reference
A novel HECT-type E3 ubiquitin ligase, NEDL2, stabilizes p73 and enhances its transcriptional activity
10.1016/s0006-291x(03)01347-0 · ExternalCitation · doi-reference
Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons
10.1038/nature10726 · ExternalCitation · doi-reference
Towards a therapy for Angelman syndrome by targeting a long non-coding RNA
10.1038/nature13975 · ExternalCitation · doi-reference
10.1038/nature21062
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The HECT-domain ubiquitin ligase Huwe1 controls neural differentiation and proliferation by destabilizing the N-Myc oncoprotein
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