Control of craniofacial and brain development by Cullin3-RING ubiquitin ligases: Lessons from human disease genetics

scientific article published on 25 September 2020

Control of craniofacial and brain development by Cullin3-RING ubiquitin ligases: Lessons from human disease genetics is …
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scholarly articleQ13442814

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P356DOI10.1016/J.YEXCR.2020.112300
P698PubMed publication ID32986984

P50authorAnthony J. AsmarQ42319805
P2093author name stringDavid B Beck
Achim Werner
P2860cites workCharacterization of Mayven, a novel actin-binding protein predominantly expressed in brainQ22010235
Cullin-3 targets cyclin E for ubiquitination and controls S phase in mammalian cellsQ22010574
TAK1 is a ubiquitin-dependent kinase of MKK and IKKQ24291454
Gigaxonin interacts with tubulin folding cofactor B and controls its degradation through the ubiquitin-proteasome pathwayQ24296695
CUL9 mediates the functions of the 3M complex and ubiquitylates survivin to maintain genome integrity.Q24296919
Structure of the Keap1:Nrf2 interface provides mechanistic insight into Nrf2 signalingQ24298930
Ubiquitin-dependent regulation of COPII coat size and functionQ24305964
The Cullin 3 substrate adaptor KLHL20 mediates DAPK ubiquitination to control interferon responsesQ24306576
KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephronQ24307394
A Cul3-based E3 ligase removes Aurora B from mitotic chromosomes, regulating mitotic progression and completion of cytokinesis in human cellsQ24307672
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline MyopathyQ24309236
Mechanism of ubiquitin-chain formation by the human anaphase-promoting complexQ24313604
Structural insights into NEDD8 activation of cullin-RING ligases: conformational control of conjugationQ24314520
Involvement of linear polyubiquitylation of NEMO in NF-kappaB activationQ24315943
Cullin mediates degradation of RhoA through evolutionarily conserved BTB adaptors to control actin cytoskeleton structure and cell movementQ24318748
Adaptor protein self-assembly drives the control of a cullin-RING ubiquitin ligaseQ24336527
The Cul3-KLHL21 E3 ubiquitin ligase targets aurora B to midzone microtubules in anaphase and is required for cytokinesisQ24336860
Gigaxonin-controlled degradation of MAP1B light chain is critical to neuronal survivalQ24338406
BTB protein Keap1 targets antioxidant transcription factor Nrf2 for ubiquitination by the Cullin 3-Roc1 ligaseQ24558689
Keap1 is a redox-regulated substrate adaptor protein for a Cul3-dependent ubiquitin ligase complexQ24559743
Biological insights from 108 schizophrenia-associated genetic lociQ24561833
Oxidative stress sensor Keap1 functions as an adaptor for Cul3-based E3 ligase to regulate proteasomal degradation of Nrf2Q24563807
LZTR1 is a regulator of RAS ubiquitination and signalingQ93160063
The ubiquitin ligase adaptor SPOP in cancerQ93175108
De novo variants in CUL3 are associated with global developmental delays with or without infantile spasmsQ93270527
Posing the APC/C E3 Ubiquitin Ligase to Orchestrate Cell DivisionQ93348582
The development, patterning and evolution of neural crest cell differentiation into cartilage and boneQ94953921
The mutational constraint spectrum quantified from variation in 141,456 humansQ95933932
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variantQ36004324
Deconjugation of Nedd8 from Cul1 Is Directly Regulated by Skp1-F-box and Substrate, and the COP9 Signalosome Inhibits Deneddylated SCF by a Noncatalytic MechanismQ36216079
Ubiquitylation and cell signalingQ36251951
The genetic basis of a craniofacial disease provides insight into COPII coat assembly.Q36487336
Two-site substrate recognition model for the Keap1-Nrf2 system: a hinge and latch mechanismQ36642707
The Colossus of Ubiquitylation: Decrypting a Cellular CodeQ36660304
Rate of de novo mutations and the importance of father's age to disease riskQ24632353
Microduplications of 16p11.2 are associated with schizophreniaQ24634151
Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosaQ24647358
The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulationQ24655603
Sequence and structural analysis of BTB domain proteinsQ24812693
Building the Neuronal Microtubule CytoskeletonQ26801526
Analysis of protein-coding genetic variation in 60,706 humansQ26831376
Building and remodelling Cullin-RING E3 ubiquitin ligasesQ27027816
Different Electrostatic Potentials Define ETGE and DLG Motifs as Hinge and Latch in Oxidative Stress ResponseQ27647812
Structures of SPOP-Substrate Complexes: Insights into Molecular Architectures of BTB-Cul3 Ubiquitin LigasesQ27657740
The molecular basis of CRL4DDB2/CSA ubiquitin ligase architecture, targeting, and activationQ27675805
Structural Basis for Cul3 Protein Assembly with the BTB-Kelch Family of E3 Ubiquitin LigasesQ27675990
Kelch proteins: emerging roles in skeletal muscle development and diseases.Q27687474
CUL3-KBTBD6/KBTBD7 ubiquitin ligase cooperates with GABARAP proteins to spatially restrict TIAM1-RAC1 signalingQ27697991
Structural Insights into KCTD Protein Assembly and Cullin3 RecognitionQ27702091
Cullin-RING ubiquitin E3 ligase regulation by the COP9 signalosomeQ27704406
RING domain E3 ubiquitin ligasesQ27860546
Mechanisms underlying ubiquitinationQ27860656
A role for Saccharomyces cerevisiae Cul8 ubiquitin ligase in proper anaphase progressionQ27931729
Two Distinct Types of E3 Ligases Work in Unison to Regulate Substrate UbiquitylationQ28115944
Function and regulation of cullin-RING ubiquitin ligasesQ28131707
Synaptic, transcriptional and chromatin genes disrupted in autismQ28250800
Association between microdeletion and microduplication at 16p11.2 and autismQ28264205
The ubiquitin codeQ28265104
Non-invasive genetic diagnosis of male infertility using spermatozoal RNA: KLHL10 mutations in oligozoospermic patients impair homodimerizationQ28268874
Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative GroupQ28273395
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 tremorQ28284058
Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardationQ28286574
The KLHL12-Cullin-3 ubiquitin ligase negatively regulates the Wnt-beta-catenin pathway by targeting Dishevelled for degradationQ28302850
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathyQ28506382
Haploinsufficiency of kelch-like protein homolog 10 causes infertility in male miceQ28509955
Interactions between CAP70 and actinfilin are important for integrity of actin cytoskeleton structures in neuronsQ28570199
Actinfilin is a Cul3 substrate adaptor, linking GluR6 kainate receptor subunits to the ubiquitin-proteasome pathwayQ28579883
Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradationQ36793478
Cand1 promotes assembly of new SCF complexes through dynamic exchange of F box proteinsQ36850952
Shared genetic contribution to Ischaemic Stroke and Alzheimer's DiseaseQ36895476
Structural and kinetic analysis of the COP9-Signalosome activation and the cullin-RING ubiquitin ligase deneddylation cycleQ36932100
REN(KCTD11) is a suppressor of Hedgehog signaling and is deleted in human medulloblastomaQ36987393
Structural Basis for a Reciprocal Regulation between SCF and CSNQ36988986
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathyQ37010363
Higher-order oligomerization promotes localization of SPOP to liquid nuclear specklesQ37011857
The origins of medulloblastoma subtypesQ37014819
Multimodal activation of the ubiquitin ligase SCF by Nedd8 conjugationQ37101488
Gigaxonin controls vimentin organization through a tubulin chaperone-independent pathwayQ37147147
The emerging family of CULLIN3-RING ubiquitin ligases (CRL3s): cellular functions and disease implications.Q37163747
Mechanisms and function of substrate recruitment by F-box proteins.Q37307464
Multiple Ser/Thr-rich degrons mediate the degradation of Ci/Gli by the Cul3-HIB/SPOP E3 ubiquitin ligaseQ37482039
Molecular mechanisms of the Keap1–Nrf2 pathway in stress response and cancer evolutionQ37830775
Mechanisms Regulating Protein Localization.Q38546818
Glycosylation of KEAP1 links nutrient sensing to redox stress signaling.Q38664878
Degradation of the Intermediate Filament Family by GigaxoninQ38700422
The increasing complexity of the ubiquitin codeQ38845500
CAND1 exchange factor promotes Keap1 integration into cullin 3-RING ubiquitin ligase during adipogenesisQ38848466
Bacurd1/Kctd13 and Bacurd2/Tnfaip1 are interacting partners to Rnd proteins which influence the long-term positioning and dendritic maturation of cerebral cortical neurons.Q38952332
Biomolecular condensates: organizers of cellular biochemistryQ39146409
Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.Q39289781
Ubiquitin-Dependent Regulation of Stem Cell Biology.Q39320843
Histone deacetylase and Cullin3-REN(KCTD11) ubiquitin ligase interplay regulates Hedgehog signalling through Gli acetylationQ39750898
A dominant-negative form of the E3 ubiquitin ligase Cullin-1 disrupts the correct allocation of cell fate in the neural crest lineageQ40333381
BTB proteins are substrate-specific adaptors in an SCF-like modular ubiquitin ligase containing CUL-3.Q40633677
Spatiotemporal 16p11.2 protein network implicates cortical late mid-fetal brain development and KCTD13-Cul3-RhoA pathway in psychiatric diseasesQ42164701
Structural complexity in the KCTD family of Cullin3-dependent E3 ubiquitin ligasesQ42694183
Cytoskeletal regulation by the Nedd8 ubiquitin-like protein modification pathwayQ43888176
Xenopus BTBD6 and its Drosophila homologue lute are required for neuronal developmentQ43980915
Ubiquitylation at the crossroads of development and disease.Q44379396
Trade-off and flexibility in the dynamic regulation of the cullin-RING ubiquitin ligase repertoire.Q46004261
The whole-genome landscape of medulloblastoma subtypesQ46567834
Kctd13 deletion reduces synaptic transmission via increased RhoA.Q47035966
The BTB protein MEL-26 is a substrate-specific adaptor of the CUL-3 ubiquitin-ligase.Q47069071
A Krebs Cycle Component Limits Caspase Activation Rate through Mitochondrial Surface Restriction of CRL ActivationQ47071529
Hedgehog antagonist REN(KCTD11) regulates proliferation and apoptosis of developing granule cell progenitorsQ28589954
A SPOPL/Cullin-3 ubiquitin ligase complex regulates endocytic trafficking by targeting EPS15 at endosomesQ28834146
Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragilityQ28975757
Cell-fate determination by ubiquitin-dependent regulation of translationQ28975777
Regulation of the CUL3 Ubiquitin Ligase by a Calcium-Dependent Co-adaptorQ28975781
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutationsQ29030218
A multiubiquitin chain is confined to specific lysine in a targeted short-lived proteinQ29547884
The role of the Rho GTPases in neuronal developmentQ29616295
Building ubiquitin chains: E2 enzymes at workQ29619578
Process elongation of oligodendrocytes is promoted by the Kelch-related actin-binding protein MayvenQ30160315
Intermediate filament aggregates cause mitochondrial dysmotility and increase energy demands in giant axonal neuropathyQ30826535
A ubiquitin ligase complex regulates caspase activation during sperm differentiation in DrosophilaQ33299579
A feedback loop mediated by degradation of an inhibitor is required to initiate neuronal differentiationQ33594150
ATP5H/KCTD2 locus is associated with Alzheimer's disease risk.Q33652534
Identification and characterization of KCASH2 and KCASH3, 2 novel Cullin3 adaptors suppressing histone deacetylase and Hedgehog activity in medulloblastoma.Q33864635
Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi familiesQ33916084
Roles of Wnt proteins in neural development and maintenanceQ33941597
Next-generation sequencing identifies rare variants associated with Noonan syndromeQ34025431
Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin geneQ34125035
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.Q34153403
Genetics of craniofacial development and malformationQ34271559
A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndromeQ34277615
A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.Q34285108
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with coresQ34381793
Dynamics of Cullin-RING Ubiquitin Ligase Network Revealed by Systematic Quantitative ProteomicsQ34433677
Identification of mutations in CUL7 in 3-M syndromeQ34448386
Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi traffickingQ34566704
Structural assembly of cullin-RING ubiquitin ligase complexesQ34762436
Sensory-motor deficits and neurofilament disorganization in gigaxonin-null miceQ34980848
Establishing neural crest identity: a gene regulatory recipeQ34999153
Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalitiesQ35011856
PDZ-RhoGEF ubiquitination by Cullin3-KLHL20 controls neurotrophin-induced neurite outgrowthQ35047461
When ubiquitin meets ubiquitin receptors: a signalling connectionQ35141760
Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic functionQ35591685
Bacurd2 is a novel interacting partner to Rnd2 which controls radial migration within the developing mammalian cerebral cortexQ35610329
SCF ubiquitin ligases in the maintenance of genome stabilityQ35754115
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalitiesQ35754537
Caspase Activity and a Specific Cytochrome C Are Required for Sperm Differentiation in DrosophilaQ47071601
Large-scale discovery of novel genetic causes of developmental disordersQ47073693
Secretory COPII coat component Sec23a is essential for craniofacial chondrocyte maturationQ47073852
Cullin 3-Based Ubiquitin Ligases as Master Regulators of Mammalian Cell Differentiation.Q47284253
Ubiquitin signaling and autophagyQ47349935
Composition and Regulation of the Cellular Repertoire of SCF Ubiquitin LigasesQ47380507
Functional analysis of Cullin 3 E3 ligases in tumorigenesis.Q47413250
Liquid phase condensation in cell physiology and diseaseQ47649585
Process elongation of oligodendrocytes is promoted by the Kelch-related protein MRP2/KLHL1.Q48260498
KCTD2, an adaptor of Cullin3 E3 ubiquitin ligase, suppresses gliomagenesis by destabilizing c-MycQ48369262
Enc1 expression in the chick telencephalon at intermediate and late stages of development.Q48435489
MAPK and PI3K Signaling: at the Crossroads of Neural Crest Development.Q49905672
PARC and CUL7 form atypical cullin RING ligase complexesQ50336204
Targeting of protein ubiquitination by BTB–Cullin 3–Roc1 ubiquitin ligasesQ50337002
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variantsQ50422342
Cand1-Mediated Adaptive Exchange Mechanism Enables Variation in F-Box Protein Expression.Q52729296
ENC1 Modulates the Aggregation and Neurotoxicity of Mutant Huntingtin Through p62 Under ER StressQ53253751
Dimerization of substrate adaptors can facilitate cullin-mediated ubiquitylation of proteins by a "tethering" mechanism: a two-site interaction model for the Nrf2-Keap1 complexQ53616483
Rare variants in SOS2 and LZTR1 are associated with Noonan syndromeQ54283112
A novel mutation in the GAN gene causes an intermediate form of giant axonal neuropathy in an Arab-Israeli family.Q55056967
Multisite dependency of an E3 ligase controls monoubiquitylation-dependent cell fate decisionsQ56535619
Cancer Mutations of the Tumor Suppressor SPOP Disrupt the Formation of Active, Phase-Separated CompartmentsQ57029699
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defectQ57180375
Principles of Ubiquitin-Dependent SignalingQ57183203
Correction: A Genome-Wide Investigation of SNPs and CNVs in SchizophreniaQ57323037
Dimerization quality control ensures neuronal development and survivalQ59957053
Breaking the chains: deubiquitylating enzyme specificity begets functionQ63384377
Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the kelch domain substrate-recognition surface and enhance RAS-MAPK signalingQ64042419
Prospective discovery of small molecule enhancers of an E3 ligase-substrate interactionQ64104255
SPOP Promotes Nanog Destruction to Suppress Stem Cell Traits and Prostate Cancer Progression.Q64947175
Intermediate filament aggregation in fibroblasts of giant axonal neuropathy patients is aggravated in non dividing cells and by microtubule destabilizationQ73199659
BTB/POZ domain proteins are putative substrate adaptors for cullin 3 ubiquitin ligasesQ79120285
Heterogeneity and specialized functions of translation machinery: from genes to organismsQ88562596
Two novel mutations in the GAN gene causing giant axonal neuropathyQ89017640
Harnessing the Power of Proteolysis for Targeted Protein InactivationQ89467856
NEDD8 nucleates a multivalent cullin-RING-UBE2D ubiquitin ligation assemblyQ89686909
Sonic Hedgehog repression underlies gigaxonin mutation-induced motor deficits in giant axonal neuropathyQ90020755
Cullin 3, a cellular scripter of the non-proteolytic ubiquitin codeQ90758988
CUL3 Deficiency Causes Social Deficits and Anxiety-like Behaviors by Impairing Excitation-Inhibition Balance through the Promotion of Cap-Dependent TranslationQ91522928
PLEKHA4/kramer Attenuates Dishevelled Ubiquitination to Modulate Wnt and Planar Cell Polarity SignalingQ92040867
Enzymatic Logic of Ubiquitin Chain AssemblyQ92105561
LZTR1 facilitates polyubiquitination and degradation of RAS-GTPasesQ92134766
RIT1 oncoproteins escape LZTR1-mediated proteolysisQ92370778
Assembly and Regulation of CRL Ubiquitin LigasesQ92390116
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit AnomaliesQ92550947
Gigaxonin glycosylation regulates intermediate filament turnover and may impact giant axonal neuropathy etiology or treatmentQ92682038
Proteolysis-Targeting Chimeras as Therapeutics and Tools for Biological DiscoveryQ92755207
PIKES Analysis Reveals Response to Degraders and Key Regulatory Mechanisms of the CRL4 NetworkQ92886985
Behavioral, circuitry, and molecular aberrations by region-specific deficiency of the high-risk autism gene Cul3Q92914169
Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitinationQ93160013
P304page(s)112300
P577publication date2020-09-25
P1433published inExperimental Cell ResearchQ1524289
P1476titleControl of craniofacial and brain development by Cullin3-RING ubiquitin ligases: Lessons from human disease genetics

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