| Sonstiges: |
- Nachgewiesen in: MEDLINE
- Sprachen: English
- Publication Type: Journal Article; Research Support, Non-U.S. Gov't
- Language: English
- [Exp Mol Med] 2023 Aug; Vol. 55 (8), pp. 1783-1794. <i>Date of Electronic Publication: </i>2023 Aug 01.
- MeSH Terms: Autism Spectrum Disorder* / chemically induced ; Autism Spectrum Disorder* / genetics ; Ubiquitin-Protein Ligases* / metabolism ; Wnt Signaling Pathway* ; Animals ; Female ; Mice ; Pregnancy ; Disease Models, Animal ; Proteomics ; Up-Regulation ; Valproic Acid / adverse effects
- References: American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders: DSM-5™ 5th ed. (American Psychiatric Publishing, Inc., 2013). ; Fischbach, G. D. & Lord, C. The Simons simplex collection: a resource for identification of autism genetic risk factors. Neuron 68, 192–195 (2010). (PMID: 2095592610.1016/j.neuron.2010.10.006) ; Ehninger, D. et al. Gestational immune activation and Tsc2 haploinsufficiency cooperate to disrupt fetal survival and may perturb social behavior in adult mice. Mol. Psychiatry 17, 62–70 (2012). (PMID: 2107960910.1038/mp.2010.115) ; Reed, M. D. et al. IL-17a promotes sociability in mouse models of neurodevelopmental disorders. Nature 577, 249–253 (2020). (PMID: 3185306610.1038/s41586-019-1843-6) ; Perucca, E. Pharmacological and therapeutic properties of valproate: a summary after 35 years of clinical experience. CNS Drugs 16, 695–714 (2002). (PMID: 1226986210.2165/00023210-200216100-00004) ; Vorhees, C. V. Teratogenicity and developmental toxicity of valproic acid in rats. Teratology 35, 195–202 (1987). (PMID: 311099210.1002/tera.1420350205) ; Bromley, R. L., Mawer, G., Clayton-Smith, J. & Baker, G. A. Autism spectrum disorders following in utero exposure to antiepileptic drugs. Neurology 71, 1923–1924 (2008). (PMID: 1904756510.1212/01.wnl.0000339399.64213.1a) ; Rasalam, A. D. et al. Characteristics of fetal anticonvulsant syndrome associated autistic disorder. Dev. Med. Child Neurol. 47, 551–555 (2005). (PMID: 1610845610.1017/S0012162205001076) ; Go, H. S. et al. Prenatal exposure to valproic acid increases the neural progenitor cell pool and induces macrocephaly in rat brain via a mechanism involving the GSK-3beta/beta-catenin pathway. Neuropharmacology 63, 1028–1041 (2012). (PMID: 2284195710.1016/j.neuropharm.2012.07.028) ; Kim, K. C. et al. The critical period of valproate exposure to induce autistic symptoms in Sprague-Dawley rats. Toxicol. Lett. 201, 137–142 (2011). (PMID: 2119514410.1016/j.toxlet.2010.12.018) ; Mabunga, D. F., Gonzales, E. L., Kim, J. W., Kim, K. C. & Shin, C. Y. Exploring the validity of valproic acid animal model of autism. Exp. Neurobiol. 24, 285–300 (2015). (PMID: 26713077468832910.5607/en.2015.24.4.285) ; Roullet, F. I., Lai, J. K. & Foster, J. A. In utero exposure to valproic acid and autism–a current review of clinical and animal studies. Neurotoxicol. Teratol. 36, 47–56 (2013). (PMID: 2339580710.1016/j.ntt.2013.01.004) ; Chomiak, T., Turner, N. & Hu, B. What we have learned about autism spectrum disorder from valproic acid. Pathol. Res. Int. 2013, 712758 (2013). (PMID: 10.1155/2013/712758) ; Nicolini, C. & Fahnestock, M. The valproic acid-induced rodent model of autism. Exp. Neurol. 299, 217–227 (2018). (PMID: 2847262110.1016/j.expneurol.2017.04.017) ; Schneider, T. & Przewłocki, R. Behavioral alterations in rats prenatally exposed to valproic acid: animal model of autism. Neuropsychopharmacology 30, 80–89 (2005). (PMID: 1523899110.1038/sj.npp.1300518) ; Markram, K., Rinaldi, T., Mendola, D. L., Sandi, C. & Markram, H. Abnormal fear conditioning and amygdala processing in an animal model of autism. Neuropsychopharmacology 33, 901–912 (2008). (PMID: 1750791410.1038/sj.npp.1301453) ; Wang, R. et al. Aberrant development and synaptic transmission of cerebellar cortex in a VPA induced mouse autism model. Front. Cell. Neurosci. 12 (2018). ; Yamaguchi, H. et al. Environmental enrichment attenuates behavioral abnormalities in valproic acid-exposed autism model mice. Behav. Brain Res. 333, 67–73 (2017). (PMID: 2865556510.1016/j.bbr.2017.06.035) ; Lazaro, M. T. et al. Reduced prefrontal synaptic connectivity and disturbed oscillatory population dynamics in the CNTNAP2 model of autism. Cell Rep. 27, 2567–2578.e2566 (2019). (PMID: 31141683655348310.1016/j.celrep.2019.05.006) ; Qiu, S., Anderson, C. T., Levitt, P. & Shepherd, G. M. G. Circuit-specific intracortical hyperconnectivity in mice with deletion of the autism-associated met receptor tyrosine kinase. J. Neurosci. 31, 5855 (2011). (PMID: 21490227308602610.1523/JNEUROSCI.6569-10.2011) ; Gobbi, G. & Janiri, L. Sodium- and magnesium-valproate in vivo modulate glutamatergic and GABAergic synapses in the medial prefrontal cortex. Psychopharmacology 185, 255–262 (2006). (PMID: 1649613110.1007/s00213-006-0317-3) ; Kalkman, H. O. A review of the evidence for the canonical Wnt pathway in autism spectrum disorders. Mol. Autism 3, 10 (2012). (PMID: 23083465349209310.1186/2040-2392-3-10) ; Krumm, N., O’Roak, B. J., Shendure, J. & Eichler, E. E. A de novo convergence of autism genetics and molecular neuroscience. Trends Neurosci. 37, 95–105 (2014). (PMID: 2438778910.1016/j.tins.2013.11.005) ; Kwan, V., Unda, B. K. & Singh, K. K. Wnt signaling networks in autism spectrum disorder and intellectual disability. J. Neurodev. Disord. 8, 45 (2016). (PMID: 27980692513722010.1186/s11689-016-9176-3) ; Qin, L., Dai, X. & Yin, Y. Valproic acid exposure sequentially activates Wnt and mTOR pathways in rats. Mol. Cell. Neurosci. 75, 27–35 (2016). (PMID: 2734382510.1016/j.mcn.2016.06.004) ; Zhang, Y. et al. Downregulating the canonical Wnt/beta-catenin signaling pathway attenuates the susceptibility to autism-like phenotypes by decreasing oxidative stress. Neurochem. Res. 37, 1409–1419 (2012). (PMID: 2237447110.1007/s11064-012-0724-2) ; An, J. Y. et al. Towards a molecular characterization of autism spectrum disorders: an exome sequencing and systems approach. Transl. Psychiatry 4, e394 (2014). (PMID: 24893065408031910.1038/tp.2014.38) ; Jang, W. E. et al. Cntnap2-dependent molecular networks in autism spectrum disorder revealed through an integrative multi-omics analysis. Mol. Psychiatry 28, 810–821 (2023). (PMID: 3625344310.1038/s41380-022-01822-1) ; Velmeshev, D. et al. Single-cell genomics identifies cell type-specific molecular changes in autism. Science 364, 685–689 (2019). (PMID: 31097668767872410.1126/science.aav8130) ; Aebersold, R. & Mann, M. Mass-spectrometric exploration of proteome structure and function. Nature 537, 347–355 (2016). (PMID: 2762964110.1038/nature19949) ; Kim, M. S. et al. A draft map of the human proteome. Nature 509, 575–581 (2014). (PMID: 24870542440373710.1038/nature13302) ; Sebat, J. et al. Strong association of De Novo copy number mutations with autism. Science 316, 445–449 (2007). (PMID: 17363630299350410.1126/science.1138659) ; Kojic, M. et al. Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype. Nat. Commun. 12, 2678 (2021). (PMID: 33976153811345010.1038/s41467-021-22888-5) ; Thacker, S. & Eng, C. Transcriptome-(phospho)proteome characterization of brain of a germline model of cytoplasmic-predominant Pten expression with autism-like phenotypes. Npj. Genom. Med. 6, 42 (2021). (PMID: 34078911817300810.1038/s41525-021-00201-z) ; Courchesne, E. et al. Neuron number and size in prefrontal cortex of children with autism. JAMA 306, 2001–2010 (2011). (PMID: 2206899210.1001/jama.2011.1638) ; Rinaldi, T., Perrodin, C. & Markram, H. Hyper-connectivity and hyper-plasticity in the medial prefrontal cortex in the valproic acid animal model of autism. Front. Neural Circuit 2 (2008). ; Bicks, L. K., Koike, H., Akbarian, S. & Morishita, H. Prefrontal cortex and social cognition in mouse and man. Front. Psychol. 6, 1805 (2015). (PMID: 26635701465989510.3389/fpsyg.2015.01805) ; Kim, J.-W. et al. Pharmacological modulation of AMPA receptor rescues social impairments in animal models of autism. Neuropsychopharmacology 44, 314–323 (2019). (PMID: 2989940510.1038/s41386-018-0098-5) ; Park, J. H. et al. Disruption of nucleocytoplasmic trafficking as a cellular senescence driver. Exp. Mol. Med. 53, 1092–1108 (2021). (PMID: 34188179825758710.1038/s12276-021-00643-6) ; Cox, J. & Mann, M. MaxQuant enables high peptide identification rates, individualized p.p.b.-range mass accuracies and proteome-wide protein quantification. Nat. Biotechnol. 26, 1367–1372 (2008). (PMID: 1902991010.1038/nbt.1511) ; Jassal, B. et al. The reactome pathway knowledgebase. Nucleic Acids Res. 48, D498–D503 (2020). (PMID: 31691815) ; Kuleshov, M. V. et al. Enrichr: a comprehensive gene set enrichment analysis web server 2016 update. Nucleic Acids Res. 44, W90–W97 (2016). (PMID: 27141961498792410.1093/nar/gkw377) ; Kechin, A., Boyarskikh, U., Kel, A. & Filipenko, M. cutPrimers: a new tool for accurate cutting of primers from reads of targeted next generation sequencing. J. Comput. Biol. 24, 1138–1143 (2017). (PMID: 2871523510.1089/cmb.2017.0096) ; Patro, R., Duggal, G., Love, M. I., Irizarry, R. A. & Kingsford, C. Salmon provides fast and bias-aware quantification of transcript expression. Nat. Methods 14, 417–419 (2017). (PMID: 28263959560014810.1038/nmeth.4197) ; Ryu, H.-H. et al. Excitatory neuron-specific SHP2-ERK signaling network regulates synaptic plasticity and memory. Sci. Signal. 12, eaau5755 (2019). (PMID: 30837304680002510.1126/scisignal.aau5755) ; Park, G. et al. Social isolation impairs the prefrontal-nucleus accumbens circuit subserving social recognition in mice. Cell Rep. 35 (2021). ; Yang, M., Silverman, J. L. & Crawley, J. N. Automated three-chambered social approach task for mice. Curr. Protoc. Neurosci. Chapter 8, Unit 8 26 (2011). (PMID: 217323144904775) ; Zeisel, A. et al. Molecular architecture of the mouse nervous system. Cell 174, 999–1014.e1022 (2018). (PMID: 30096314608693410.1016/j.cell.2018.06.021) ; Nowakowski, T. J. et al. Spatiotemporal gene expression trajectories reveal developmental hierarchies of the human cortex. Science 358, 1318–1323 (2017). (PMID: 29217575599160910.1126/science.aap8809) ; Parikshak, N. N. et al. Genome-wide changes in lncRNA, splicing, and regional gene expression patterns in autism. Nature 540, 423–427 (2016). (PMID: 27919067710290510.1038/nature20612) ; Fu, J. M. et al. Rare coding variation provides insight into the genetic architecture and phenotypic context of autism. Nat. Genet. 54, 1320–1331 (2022). (PMID: 35982160965301310.1038/s41588-022-01104-0) ; Kaplanis, J. et al. Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature 586, 757–762 (2020). (PMID: 33057194711682610.1038/s41586-020-2832-5) ; Heyne, H. O. et al. De novo variants in neurodevelopmental disorders with epilepsy. Nat. Genet. 50, 1048–1053 (2018). (PMID: 2994208210.1038/s41588-018-0143-7) ; Singh, T. et al. Rare coding variants in ten genes confer substantial risk for schizophrenia. Nature 604, 509–516 (2022). (PMID: 35396579980580210.1038/s41586-022-04556-w) ; Li, J. et al. CBP/p300 are bimodal regulators of Wnt signaling. EMBO J. 26, 2284–2294 (2007). (PMID: 17410209186496710.1038/sj.emboj.7601667) ; Ciani, L. et al. Wnt signalling tunes neurotransmitter release by directly targeting Synaptotagmin-1. Nat. Commun. 6, 8302 (2015). (PMID: 2640064710.1038/ncomms9302) ; Nielsen, C. P., Jernigan, K. K., Diggins, N. L., Webb, D. J. & MacGurn, J. A. USP9X deubiquitylates DVL2 to regulate WNT pathway specification. Cell. Rep. 28, 1074–1089.e1075 (2019). (PMID: 31340145688414010.1016/j.celrep.2019.06.083) ; Zhang, Y. et al. RNF146 is a poly(ADP-ribose)-directed E3 ligase that regulates axin degradation and Wnt signalling. Nat. Cell Biol. 13, 623–629 (2011). (PMID: 2147885910.1038/ncb2222) ; Lee, E., Salic, A., Krüger, R., Heinrich, R. & Kirschner, M. W. The roles of APC and axin derived from experimental and theoretical analysis of the Wnt pathway. PLoS Biol. 1, e10 (2003). (PMID: 1455190821269110.1371/journal.pbio.0000010) ; Gao, W. & Ho, M. The role of glypican-3 in regulating Wnt in hepatocellular carcinomas. Cancer Rep. 1, 14–19 (2011). (PMID: 225635653343874) ; Koopmans, F. et al. SynGO: an evidence-based, expert-curated knowledge base for the synapse. Neuron 103, 217–234.e214 (2019). (PMID: 31171447676408910.1016/j.neuron.2019.05.002) ; Ahmad-Annuar, A. et al. Signaling across the synapse: a role for Wnt and Dishevelled in presynaptic assembly and neurotransmitter release. J. Cell Biol. 174, 127–139 (2006). (PMID: 16818724206417010.1083/jcb.200511054) ; Ravindranath, A. et al. Wnt–β-catenin–Tcf-4 signalling-modulated invasiveness is dependent on osteopontin expression in breast cancer. Br. J. Cancer 105, 542–551 (2011). (PMID: 21772333317096910.1038/bjc.2011.269) ; Cheon, S. et al. The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK. Proc. Natl Acad. Sci. USA 116, 3662–3667 (2019). (PMID: 30808755639757310.1073/pnas.1818751116) ; Basel-Vanagaite, L. et al. Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. Am. J. Hum. Genet. 91, 998–1010 (2012). (PMID: 23200864351659110.1016/j.ajhg.2012.10.011) ; Brumback, A. C. et al. Identifying specific prefrontal neurons that contribute to autism-associated abnormalities in physiology and social behavior. Mol. Psychiatry 23, 2078–2089 (2018). (PMID: 2911219110.1038/mp.2017.213) ; Rinaldi, T., Kulangara, K., Antoniello, K. & Markram, H. Elevated NMDA receptor levels and enhanced postsynaptic long-term potentiation induced by prenatal exposure to valproic acid. Proc. Natl Acad. Sci. 104, 13501–13506 (2007). (PMID: 17675408194892010.1073/pnas.0704391104) ; Yang, Y. et al. RNF146 inhibits excessive autophagy by modulating the Wnt-β-catenin pathway in glutamate excitotoxicity injury. Front. Cell. Neurosci. 11 (2017). ; Kim, H. et al. Estrogen receptor activation contributes to RNF146 expression and neuroprotection in Parkinson’s disease models. Oncotarget 8 (2017). ; Shen, J., Yu, Z. & Li, N. The E3 ubiquitin ligase RNF146 promotes colorectal cancer by activating the Wnt/β-catenin pathway via ubiquitination of Axin1. Biochem. Biophys. Res. Commun. 503, 991–997 (2018). (PMID: 2993291810.1016/j.bbrc.2018.06.107) ; Abrahams, B. S. et al. SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs). Mol. Autism 4, 36 (2013). (PMID: 24090431385118910.1186/2040-2392-4-36) ; Ruzzo, E. K. et al. Inherited and De Novo genetic risk for autism impacts shared networks. Cell 178, 850–866.e826 (2019). (PMID: 31398340710290010.1016/j.cell.2019.07.015) ; Martin, P. M. et al. DIXDC1 contributes to psychiatric susceptibility by regulating dendritic spine and glutamatergic synapse density via GSK3 and Wnt/β-catenin signaling. Mol. Psychiatry 23, 467–475 (2018). (PMID: 2775207910.1038/mp.2016.184) ; Zhang, Y. et al. Genetic evidence of gender difference in autism spectrum disorder supports the female-protective effect. Transl. Psychiatry 10, 4 (2020). (PMID: 32066658702615710.1038/s41398-020-0699-8) ; Freese, J. L., Pino, D. & Pleasure, S. J. Wnt signaling in development and disease. Neurobiol. Dis. 38, 148–153 (2010). (PMID: 1976565910.1016/j.nbd.2009.09.003) ; Huang, H. & He, X. Wnt/β-catenin signaling: new (and old) players and new insights. Curr. Opin. Cell Biol. 20, 119–125 (2008). (PMID: 18339531239092410.1016/j.ceb.2008.01.009) ; Mulligan, K. A. & Cheyette, B. N. R. Wnt signaling in vertebrate neural development and function. J. Neuroimmune Pharmacol. 7, 774–787 (2012). (PMID: 23015196351858210.1007/s11481-012-9404-x) ; Brien, W. T. et al. Glycogen synthase kinase-3β haploinsufficiency mimics the behavioral and molecular effects of lithium. J. Neurosci. 24, 6791 (2004). (PMID: 10.1523/JNEUROSCI.4753-03.2004) ; Latapy, C., Rioux, V., Guitton, M. J. & Beaulieu, J. M. Selective deletion of forebrain glycogen synthase kinase 3β reveals a central role in serotonin-sensitive anxiety and social behaviour. Philos. Trans. R. Soc. Lond. B: Biol. Sci. 367, 2460–2474 (2012). (PMID: 2282634510.1098/rstb.2012.0094) ; Fang, W.-Q. et al. Overproduction of upper-layer neurons in the neocortex leads to autism-like features in mice. Cell Rep. 9, 1635–1643 (2014). (PMID: 2546624810.1016/j.celrep.2014.11.003) ; Cui, K. et al. Neurodevelopmental impairment induced by prenatal valproic acid exposure shown with the human cortical organoid-on-a-chip model. Microsyst. Nanoeng. 6, 49 (2020). (PMID: 34567661843319610.1038/s41378-020-0165-z) ; Peukert, D., Weber, S., Lumsden, A. & Scholpp, S. Lhx2 and Lhx9 determine neuronal differentiation and compartition in the caudal forebrain by regulating Wnt signaling. PLoS Biol. 9, e1001218 (2011). (PMID: 22180728323673410.1371/journal.pbio.1001218) ; Mines, M. A., Yuskaitis, C. J., King, M. K., Beurel, E. & Jope, R. S. GSK3 influences social preference and anxiety-related behaviors during social interaction in a mouse model of fragile X syndrome and autism. PLoS ONE 5, e9706 (2010). (PMID: 20300527283879310.1371/journal.pone.0009706) ; Choi, C. H. et al. Pharmacological reversal of synaptic plasticity deficits in the mouse model of Fragile X syndrome by group II mGluR antagonist or lithium treatment. Brain Res. 1380, 106–119 (2011). (PMID: 2107830410.1016/j.brainres.2010.11.032) ; Arredondo, S. B., Valenzuela-Bezanilla, D., Mardones, M. D. & Varela-Nallar, L. Role of Wnt signaling in adult hippocampal neurogenesis in health and disease. Front. Cell Dev. Biol. 8, 860 (2020). (PMID: 33042988752500410.3389/fcell.2020.00860) ; McLeod, F. & Salinas, P. C. Wnt proteins as modulators of synaptic plasticity. Curr. Opin. Neurobiol. 53, 90–95 (2018). (PMID: 29975877624692210.1016/j.conb.2018.06.003) ; Rosso, S., Inestrosa, N. & Rosso, S. WNT signaling in neuronal maturation and synaptogenesis. Front. Cell. Neurosci. 7 (2013). ; Okuda, T., Yu, L. M. Y., Cingolani, L. A., Kemler, R. & Goda, Y. β-Catenin regulates excitatory postsynaptic strength at hippocampal synapses. Proc. Natl Acad. Sci. 104, 13479–13484 (2007). (PMID: 17679699194893610.1073/pnas.0702334104) ; Sun, M. et al. Presynaptic contributions of chordin to hippocampal plasticity and spatial learning. J. Neurosci. 27, 7740 (2007). (PMID: 17634368667286510.1523/JNEUROSCI.1604-07.2007) ; Kim, K. C. et al. Male-specific alteration in excitatory post-synaptic development and social interaction in pre-natal valproic acid exposure model of autism spectrum disorder. J. Neurochem. 124, 832–843 (2013). (PMID: 2331169110.1111/jnc.12147) ; Kataoka, S. et al. Autism-like behaviours with transient histone hyperacetylation in mice treated prenatally with valproic acid. Int. J. Neuropsychopharmacol. 16, 91–103 (2013). (PMID: 2209318510.1017/S1461145711001714)
- Substance Nomenclature: EC 2.3.2.27 (Rnf146 protein, mouse) ; EC 2.3.2.27 (Ubiquitin-Protein Ligases) ; 614OI1Z5WI (Valproic Acid)
- Entry Date(s): Date Created: 20230731 Date Completed: 20230908 Latest Revision: 20230921
- Update Code: 20240514
- PubMed Central ID: PMC10474298
|
