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For: Gompers AL, Su-Feher L, Ellegood J, Copping NA, Riyadh MA, Stradleigh TW, Pride MC, Schaffler MD, Wade AA, Catta-Preta R, Zdilar I, Louis S, Kaushik G, Mannion BJ, Plajzer-Frick I, Afzal V, Visel A, Pennacchio LA, Dickel DE, Lerch JP, Crawley JN, Zarbalis KS, Silverman JL, Nord AS. Germline Chd8 haploinsufficiency alters brain development in mouse. Nat Neurosci 2017;20:1062-73. [PMID: 28671691 DOI: 10.1038/nn.4592] [Citation(s) in RCA: 173] [Impact Index Per Article: 21.6] [Reference Citation Analysis] [What about the content of this article? (0)] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/07/2016] [Accepted: 05/23/2017] [Indexed: 02/06/2023]
Number Cited by Other Article(s)
1
Kawamura A, Fujii K, Tamada K, Abe Y, Nitahara K, Iwasaki T, Yagishita S, Tanaka KF, Takumi T, Takao K, Nishiyama M. Duplication of the autism-related gene Chd8 leads to behavioral hyperactivity and neurodevelopmental defects in mice. Nat Commun 2025;16:4641. [PMID: 40419468 DOI: 10.1038/s41467-025-59853-5] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/17/2024] [Accepted: 05/02/2025] [Indexed: 05/28/2025]  Open
2
Fenton TA, Petkova SP, Adhikari A, Silverman JL. Acute administration of lovastatin had no pronounced effect on motor abilities, motor coordination, gait nor simple cognition in a mouse model of Angelman syndrome. J Neurodev Disord 2025;17:27. [PMID: 40382580 DOI: 10.1186/s11689-025-09616-6] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/08/2024] [Accepted: 05/01/2025] [Indexed: 05/20/2025]  Open
3
Moore JR, Nemera MT, D'Souza RD, Hamagami N, Clemens AW, Beard DC, Urman A, Razia Y, Rodriguez Mendoza V, Law TE, Edwards JR, Gabel HW. MeCP2 and non-CG DNA methylation stabilize the expression of long genes that distinguish closely related neuron types. Nat Neurosci 2025:10.1038/s41593-025-01947-w. [PMID: 40355611 DOI: 10.1038/s41593-025-01947-w] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/30/2024] [Accepted: 03/14/2025] [Indexed: 05/14/2025]
4
Thom RP, Warren TL, Khan S, Muhle RA, Wang PP, Brennand K, Zürcher NR, Veenstra-VanderWeele J, Hoffman EJ. A Blueprint for Translational Precision Medicine in Autism Spectrum Disorder and Related Neurogenetic Syndromes. J Child Adolesc Psychopharmacol 2025;35:178-193. [PMID: 40138183 DOI: 10.1089/cap.2025.0023] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 03/29/2025]
5
Klibaite U, Li T, Aldarondo D, Akoad JF, Ölveczky BP, Dunn TW. Mapping the landscape of social behavior. Cell 2025;188:2249-2266.e23. [PMID: 40043703 PMCID: PMC12010356 DOI: 10.1016/j.cell.2025.01.044] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/02/2023] [Revised: 01/17/2025] [Accepted: 01/31/2025] [Indexed: 03/12/2025]
6
Huie EZ, Yang X, Rioult-Pedotti MS, Tran K, Monsen ER, Hansen K, Erickson MA, Naik M, Yotova AY, Banks WA, Huang YWA, Silverman JL, Marshall J. Peptidomimetic inhibitors targeting TrkB/PSD-95 signaling improves cognition and seizure outcomes in an Angelman Syndrome mouse model. Neuropsychopharmacology 2025;50:772-782. [PMID: 39511336 PMCID: PMC11914665 DOI: 10.1038/s41386-024-02020-z] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/01/2024] [Revised: 09/18/2024] [Accepted: 10/15/2024] [Indexed: 11/15/2024]
7
Srinath S, Kalal A, Anand P, Mohapatra S, Chakraborty P. Small SNPs, Big Effects: A Review of Single Nucleotide Variations and Polymorphisms in Key Genes Associated With Autism Spectrum Disorder. Int J Dev Neurosci 2025;85:e70016. [PMID: 40223535 DOI: 10.1002/jdn.70016] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/18/2025] [Revised: 02/19/2025] [Accepted: 04/02/2025] [Indexed: 04/15/2025]  Open
8
Meert L, Pelicano de Almeida M, Dekker MR, Dekkers DHW, Nowosad K, Huylebroeck D, van den Hout M, Ozgür Z, van IJcken WFJ, Demmers J, Fornerod M, Poot RA. A CHD8-TRRAP axis facilitates MYC and E2F target gene regulation in human neural stem cells. iScience 2025;28:111978. [PMID: 40104050 PMCID: PMC11914185 DOI: 10.1016/j.isci.2025.111978] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/07/2023] [Revised: 11/06/2024] [Accepted: 02/05/2025] [Indexed: 03/20/2025]  Open
9
Di Leva F, Arnoldi M, Santarelli S, Massonot M, Lemée MV, Bon C, Pellegrini M, Castellini ME, Zarantonello G, Messina A, Bozzi Y, Bernier R, Zucchelli S, Casarosa S, Dassi E, Ronzitti G, Golzio C, Morandell J, Gustincich S, Espinoza S, Biagioli M. SINEUP RNA rescues molecular phenotypes associated with CHD8 suppression in autism spectrum disorder model systems. Mol Ther 2025;33:1180-1196. [PMID: 39741407 PMCID: PMC11897779 DOI: 10.1016/j.ymthe.2024.12.043] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/04/2022] [Revised: 10/01/2024] [Accepted: 12/27/2024] [Indexed: 01/03/2025]  Open
10
Singh S, Kim H, Ecevitoglu A, Chasse R, Ludko AM, Sanganahalli B, Gangasandra V, Park SR, Yee SP, Grady J, Salamone J, Holly Fitch R, Spellman T, Hyder F, Bae BI. Autism-associated ASPM variant causes macrocephaly and social-cognitive deficits in mice. BIORXIV : THE PREPRINT SERVER FOR BIOLOGY 2025:2025.02.17.638753. [PMID: 40027695 PMCID: PMC11870556 DOI: 10.1101/2025.02.17.638753] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 03/05/2025]
11
Ji P, Wang N, Yu Y, Zhu J, Zuo Z, Zhang B, Zhao F. Single-cell delineation of the microbiota-gut-brain axis: Probiotic intervention in Chd8 haploinsufficient mice. CELL GENOMICS 2025;5:100768. [PMID: 39914389 PMCID: PMC11872533 DOI: 10.1016/j.xgen.2025.100768] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 09/17/2024] [Revised: 12/02/2024] [Accepted: 01/14/2025] [Indexed: 02/16/2025]
12
Niu X, Huang F, Lyu H, Liu J, Zhang X, Bian J, Gao Z, Liu B. The Deficiency of the ASD-Related Gene CHD8 Disrupts Behavioral Patterns and Inhibits Hippocampal Neurogenesis in Mice. J Mol Neurosci 2024;74:103. [PMID: 39480606 DOI: 10.1007/s12031-024-02283-7] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/23/2024] [Accepted: 10/20/2024] [Indexed: 11/02/2024]
13
Yan RE, Chae JK, Dahmane N, Ciaramitaro P, Greenfield JP. The Genetics of Chiari 1 Malformation. J Clin Med 2024;13:6157. [PMID: 39458107 PMCID: PMC11508843 DOI: 10.3390/jcm13206157] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/01/2024] [Revised: 10/03/2024] [Accepted: 10/08/2024] [Indexed: 10/28/2024]  Open
14
Fenton TA, Haouchine OY, Hallam EB, Smith EM, Jackson KC, Rahbarian D, Canales CP, Adhikari A, Nord AS, Ben-Shalom R, Silverman JL. Hyperexcitability and translational phenotypes in a preclinical mouse model of SYNGAP1-related intellectual disability. Transl Psychiatry 2024;14:405. [PMID: 39358332 PMCID: PMC11447000 DOI: 10.1038/s41398-024-03077-6] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/10/2024] [Revised: 08/22/2024] [Accepted: 08/27/2024] [Indexed: 10/04/2024]  Open
15
Klibaite U, Li T, Aldarondo D, Akoad JF, Ölveczky BP, Dunn TW. Mapping the landscape of social behavior. BIORXIV : THE PREPRINT SERVER FOR BIOLOGY 2024:2024.09.27.615451. [PMID: 39386488 PMCID: PMC11463623 DOI: 10.1101/2024.09.27.615451] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Grants] [Track Full Text] [Download PDF] [Subscribe] [Scholar Register] [Indexed: 10/12/2024]
16
Megagiannis P, Mei Y, Yan RE, Yuan L, Wilde JJ, Eckersberg H, Suresh R, Tan X, Chen H, Farmer WT, Cha K, Le PU, Catoire H, Rochefort D, Kwan T, Yee BA, Dion P, Krishnaswamy A, Cloutier JF, Stifani S, Petrecca K, Yeo GW, Murai KK, Feng G, Rouleau GA, Ideker T, Sanjana NE, Zhou Y. Autism-associated CHD8 controls reactive gliosis and neuroinflammation via remodeling chromatin in astrocytes. Cell Rep 2024;43:114637. [PMID: 39154337 DOI: 10.1016/j.celrep.2024.114637] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/25/2023] [Revised: 06/11/2024] [Accepted: 07/30/2024] [Indexed: 08/20/2024]  Open
17
Yim KM, Baumgartner M, Krenzer M, Rosales Larios MF, Hill-Terán G, Nottoli T, Muhle RA, Noonan JP. Cell type-specific dysregulation of gene expression due to Chd8 haploinsufficiency during mouse cortical development. BIORXIV : THE PREPRINT SERVER FOR BIOLOGY 2024:2024.08.14.608000. [PMID: 39185167 PMCID: PMC11343218 DOI: 10.1101/2024.08.14.608000] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Grants] [Track Full Text] [Download PDF] [Subscribe] [Scholar Register] [Indexed: 08/27/2024]
18
Astorkia M, Liu Y, Pedrosa EM, Lachman HM, Zheng D. Molecular and network disruptions in neurodevelopment uncovered by single cell transcriptomics analysis of CHD8 heterozygous cerebral organoids. Heliyon 2024;10:e34862. [PMID: 39149047 PMCID: PMC11325375 DOI: 10.1016/j.heliyon.2024.e34862] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/20/2023] [Revised: 07/04/2024] [Accepted: 07/17/2024] [Indexed: 08/17/2024]  Open
19
Shiraishi T, Katayama Y, Nishiyama M, Shoji H, Miyakawa T, Mizoo T, Matsumoto A, Hijikata A, Shirai T, Mayanagi K, Nakayama KI. The complex etiology of autism spectrum disorder due to missense mutations of CHD8. Mol Psychiatry 2024;29:2145-2160. [PMID: 38438524 DOI: 10.1038/s41380-024-02491-y] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/29/2023] [Revised: 02/08/2024] [Accepted: 02/19/2024] [Indexed: 03/06/2024]
20
Soumier A, Lio G, Demily C. Current and future applications of light-sheet imaging for identifying molecular and developmental processes in autism spectrum disorders. Mol Psychiatry 2024;29:2274-2284. [PMID: 38443634 DOI: 10.1038/s41380-024-02487-8] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/05/2023] [Revised: 02/09/2024] [Accepted: 02/13/2024] [Indexed: 03/07/2024]
21
Huie EZ, Yang X, Rioult-Pedotti MS, Naik M, Huang YWA, Silverman JL, Marshall J. Peptidomimetic inhibitors targeting TrkB/PSD-95 signaling improves cognition and seizure outcomes in an Angelman Syndrome mouse model. BIORXIV : THE PREPRINT SERVER FOR BIOLOGY 2024:2024.06.07.597833. [PMID: 38895218 PMCID: PMC11185757 DOI: 10.1101/2024.06.07.597833] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 06/21/2024]
22
Ding C, Zhou W, Shi Y, Shan S, Yuan Y, Zhang Y, Li F, Qiu Z. Srcap haploinsufficiency induced autistic-like behaviors in mice through disruption of Satb2 expression. Cell Rep 2024;43:114231. [PMID: 38733588 DOI: 10.1016/j.celrep.2024.114231] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/03/2024] [Revised: 04/05/2024] [Accepted: 04/26/2024] [Indexed: 05/13/2024]  Open
23
Zhao B, Zhang H, Liu Y, Zu G, Zhang Y, Hu J, Liu S, You L. Forebrain excitatory neuron-specific loss of Brpf1 attenuates excitatory synaptic transmission and impairs spatial and fear memory. Neural Regen Res 2024;19:1133-1141. [PMID: 37862219 PMCID: PMC10749587 DOI: 10.4103/1673-5374.385307] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/06/2023] [Revised: 06/10/2023] [Accepted: 07/19/2023] [Indexed: 10/22/2023]  Open
24
Ellingford R, Tojo M, Basson MA, Andreae LC. Male-Dominant Effects of Chd8 Haploinsufficiency on Synaptic Phenotypes during Development in Mouse Prefrontal Cortex. ACS Chem Neurosci 2024;15:1635-1642. [PMID: 38557009 PMCID: PMC11027092 DOI: 10.1021/acschemneuro.3c00690] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/26/2023] [Revised: 03/22/2024] [Accepted: 03/22/2024] [Indexed: 04/04/2024]  Open
25
Tabbaa M, Levitt P. Chd8 haploinsufficiency impacts rearing experience in C57BL/6 mice. GENES, BRAIN, AND BEHAVIOR 2024;23:e12892. [PMID: 38560770 PMCID: PMC10982810 DOI: 10.1111/gbb.12892] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Received: 12/26/2023] [Revised: 02/14/2024] [Accepted: 03/05/2024] [Indexed: 04/04/2024]
26
Fenton TA, Haouchine OY, Hallam EL, Smith EM, Jackson KC, Rahbarian D, Canales C, Adhikari A, Nord AS, Ben-Shalom R, Silverman JL. Hyperexcitability and translational phenotypes in a preclinical mouse model of SYNGAP1-Related Intellectual Disability. RESEARCH SQUARE 2024:rs.3.rs-4067746. [PMID: 38562838 PMCID: PMC10984035 DOI: 10.21203/rs.3.rs-4067746/v1] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 04/04/2024]
27
Chen GT, Nair G, Osorio AJ, Holley SM, Ghassemzadeh K, Gonzalez J, Lu C, Sanjana NE, Cepeda C, Geschwind DH. Enhancer-targeted CRISPR-Activation Rescues Haploinsufficient Autism Susceptibility Genes. BIORXIV : THE PREPRINT SERVER FOR BIOLOGY 2024:2024.03.13.584921. [PMID: 38559217 PMCID: PMC10980046 DOI: 10.1101/2024.03.13.584921] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 04/04/2024]
28
Smith IR, Hendricks EL, Latcheva NK, Marenda DR, Liebl FLW. The CHD Protein Kismet Restricts the Synaptic Localization of Cell Adhesion Molecules at the Drosophila Neuromuscular Junction. Int J Mol Sci 2024;25:3074. [PMID: 38474321 PMCID: PMC10931923 DOI: 10.3390/ijms25053074] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/21/2024] [Revised: 03/01/2024] [Accepted: 03/05/2024] [Indexed: 03/14/2024]  Open
29
Basson MA. Neurodevelopmental functions of CHD8: new insights and questions. Biochem Soc Trans 2024;52:15-27. [PMID: 38288845 PMCID: PMC10903457 DOI: 10.1042/bst20220926] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/11/2023] [Revised: 01/03/2024] [Accepted: 01/05/2024] [Indexed: 02/29/2024]
30
O'Connor M, Qiao H, Odamah K, Cerdeira PC, Man HY. Heterozygous Nexmif female mice demonstrate mosaic NEXMIF expression, autism-like behaviors, and abnormalities in dendritic arborization and synaptogenesis. Heliyon 2024;10:e24703. [PMID: 38322873 PMCID: PMC10844029 DOI: 10.1016/j.heliyon.2024.e24703] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/13/2023] [Revised: 11/28/2023] [Accepted: 01/12/2024] [Indexed: 02/08/2024]  Open
31
Cossard A, Stam K, Smets A, Jossin Y. MKL/SRF and Bcl6 mutual transcriptional repression safeguards the fate and positioning of neocortical progenitor cells mediated by RhoA. SCIENCE ADVANCES 2023;9:eadd0676. [PMID: 37967194 PMCID: PMC10651131 DOI: 10.1126/sciadv.add0676] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Received: 05/18/2022] [Accepted: 10/16/2023] [Indexed: 11/17/2023]
32
Shi X, Lu C, Corman A, Nikish A, Zhou Y, Platt RJ, Iossifov I, Zhang F, Pan JQ, Sanjana NE. Heterozygous deletion of the autism-associated gene CHD8 impairs synaptic function through widespread changes in gene expression and chromatin compaction. Am J Hum Genet 2023;110:1750-1768. [PMID: 37802044 PMCID: PMC10577079 DOI: 10.1016/j.ajhg.2023.09.004] [Citation(s) in RCA: 15] [Impact Index Per Article: 7.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/14/2023] [Revised: 08/31/2023] [Accepted: 09/06/2023] [Indexed: 10/08/2023]  Open
33
Dugger SA, Dhindsa RS, Sampaio GDA, Ressler AK, Rafikian EE, Petri S, Letts VA, Teoh J, Ye J, Colombo S, Peng Y, Yang M, Boland MJ, Frankel WN, Goldstein DB. Neurodevelopmental deficits and cell-type-specific transcriptomic perturbations in a mouse model of HNRNPU haploinsufficiency. PLoS Genet 2023;19:e1010952. [PMID: 37782669 PMCID: PMC10569524 DOI: 10.1371/journal.pgen.1010952] [Citation(s) in RCA: 4] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/29/2023] [Revised: 10/12/2023] [Accepted: 09/01/2023] [Indexed: 10/04/2023]  Open
34
Astorkia M, Liu Y, Pedrosa EM, Lachman HM, Zheng D. Molecular and network disruptions in neurodevelopment uncovered by single cell transcriptomics analysis of CHD8 heterozygous cerebral organoids. BIORXIV : THE PREPRINT SERVER FOR BIOLOGY 2023:2023.09.27.559752. [PMID: 37808768 PMCID: PMC10557718 DOI: 10.1101/2023.09.27.559752] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 10/10/2023]
35
Silverman JL, Fenton T, Haouchine O, Hallam E, Smith E, Jackson K, Rahbarian D, Canales C, Adhikari A, Nord A, Ben-Shalom R. Hyperexcitability and translational phenotypes in a preclinical model of SYNGAP1 mutations. RESEARCH SQUARE 2023:rs.3.rs-3246655. [PMID: 37790402 PMCID: PMC10543290 DOI: 10.21203/rs.3.rs-3246655/v1] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 10/05/2023]
36
Fenton TA, Haouchine OY, Hallam EL, Smith EM, Jackson KC, Rahbarian D, Canales C, Adhikari A, Nord AS, Ben-Shalom R, Silverman JL. Hyperexcitability and translational phenotypes in a preclinical model of SYNGAP1 mutations. BIORXIV : THE PREPRINT SERVER FOR BIOLOGY 2023:2023.07.24.550093. [PMID: 37546838 PMCID: PMC10402099 DOI: 10.1101/2023.07.24.550093] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 08/08/2023]
37
Brockmeyer DL, Cheshier SH, Stevens J, Facelli JC, Rowe K, Heiss JD, Musolf A, Viskochil DH, Allen-Brady KL, Cannon-Albright LA. A likely HOXC4 predisposition variant for Chiari malformations. J Neurosurg 2023;139:266-274. [PMID: 36433874 PMCID: PMC10193467 DOI: 10.3171/2022.10.jns22956] [Citation(s) in RCA: 4] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/03/2022] [Accepted: 10/12/2022] [Indexed: 11/27/2022]
38
Kawamura A, Nishiyama M. Deletion of the autism-related gene Chd8 alters activity-dependent transcriptional responses in mouse postmitotic neurons. Commun Biol 2023;6:593. [PMID: 37268684 DOI: 10.1038/s42003-023-04968-y] [Citation(s) in RCA: 3] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/17/2022] [Accepted: 05/23/2023] [Indexed: 06/04/2023]  Open
39
Sandhu A, Kumar A, Rawat K, Gautam V, Sharma A, Saha L. Modernising autism spectrum disorder model engineering and treatment via CRISPR-Cas9: A gene reprogramming approach. World J Clin Cases 2023;11:3114-3127. [PMID: 37274051 PMCID: PMC10237133 DOI: 10.12998/wjcc.v11.i14.3114] [Citation(s) in RCA: 5] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/28/2022] [Revised: 02/13/2023] [Accepted: 04/06/2023] [Indexed: 05/16/2023]  Open
40
Weigel B, Tegethoff JF, Grieder SD, Lim B, Nagarajan B, Liu YC, Truberg J, Papageorgiou D, Adrian-Segarra JM, Schmidt LK, Kaspar J, Poisel E, Heinzelmann E, Saraswat M, Christ M, Arnold C, Ibarra IL, Campos J, Krijgsveld J, Monyer H, Zaugg JB, Acuna C, Mall M. MYT1L haploinsufficiency in human neurons and mice causes autism-associated phenotypes that can be reversed by genetic and pharmacologic intervention. Mol Psychiatry 2023;28:2122-2135. [PMID: 36782060 PMCID: PMC10575775 DOI: 10.1038/s41380-023-01959-7] [Citation(s) in RCA: 19] [Impact Index Per Article: 9.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/24/2022] [Revised: 12/30/2022] [Accepted: 01/11/2023] [Indexed: 02/15/2023]
41
Medina E, Peterson S, Ford K, Singletary K, Peixoto L. Critical periods and Autism Spectrum Disorders, a role for sleep. Neurobiol Sleep Circadian Rhythms 2023;14:100088. [PMID: 36632570 PMCID: PMC9826922 DOI: 10.1016/j.nbscr.2022.100088] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/21/2022] [Revised: 12/16/2022] [Accepted: 12/19/2022] [Indexed: 12/24/2022]  Open
42
Boulasiki P, Tan XW, Spinelli M, Riccio A. The NuRD Complex in Neurodevelopment and Disease: A Case of Sliding Doors. Cells 2023;12:cells12081179. [PMID: 37190088 DOI: 10.3390/cells12081179] [Citation(s) in RCA: 2] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/14/2023] [Revised: 04/12/2023] [Accepted: 04/14/2023] [Indexed: 05/17/2023]  Open
43
O'Geen H, Beitnere U, Garcia MS, Adhikari A, Cameron DL, Fenton TA, Copping NA, Deng P, Lock S, Halmai JANM, Villegas IJ, Liu J, Wang D, Fink KD, Silverman JL, Segal DJ. Transcriptional reprogramming restores UBE3A brain-wide and rescues behavioral phenotypes in an Angelman syndrome mouse model. Mol Ther 2023;31:1088-1105. [PMID: 36641623 PMCID: PMC10124086 DOI: 10.1016/j.ymthe.2023.01.013] [Citation(s) in RCA: 21] [Impact Index Per Article: 10.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/28/2022] [Revised: 12/19/2022] [Accepted: 01/10/2023] [Indexed: 01/15/2023]  Open
44
Li B, Zhao H, Tu Z, Yang W, Han R, Wang L, Luo X, Pan M, Chen X, Zhang J, Xu H, Guo X, Yan S, Yin P, Zhao Z, Liu J, Luo Y, Li Y, Yang Z, Zhang B, Tan Z, Xu H, Jiang T, Jiang YH, Li S, Zhang YQ, Li XJ. CHD8 mutations increase gliogenesis to enlarge brain size in the nonhuman primate. Cell Discov 2023;9:27. [PMID: 36878905 PMCID: PMC9988832 DOI: 10.1038/s41421-023-00525-3] [Citation(s) in RCA: 5] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/19/2022] [Accepted: 01/27/2023] [Indexed: 03/08/2023]  Open
45
Crawley JN. Twenty years of discoveries emerging from mouse models of autism. Neurosci Biobehav Rev 2023;146:105053. [PMID: 36682425 DOI: 10.1016/j.neubiorev.2023.105053] [Citation(s) in RCA: 12] [Impact Index Per Article: 6.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/09/2022] [Revised: 01/12/2023] [Accepted: 01/17/2023] [Indexed: 01/21/2023]
46
Tabbaa M, Knoll A, Levitt P. Mouse population genetics phenocopies heterogeneity of human Chd8 haploinsufficiency. Neuron 2023;111:539-556.e5. [PMID: 36738737 PMCID: PMC9960295 DOI: 10.1016/j.neuron.2023.01.009] [Citation(s) in RCA: 19] [Impact Index Per Article: 9.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/19/2022] [Revised: 11/13/2022] [Accepted: 01/11/2023] [Indexed: 02/05/2023]
47
Wang L, Wang B, Wu C, Wang J, Sun M. Autism Spectrum Disorder: Neurodevelopmental Risk Factors, Biological Mechanism, and Precision Therapy. Int J Mol Sci 2023;24:ijms24031819. [PMID: 36768153 PMCID: PMC9915249 DOI: 10.3390/ijms24031819] [Citation(s) in RCA: 38] [Impact Index Per Article: 19.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/29/2022] [Revised: 01/12/2023] [Accepted: 01/13/2023] [Indexed: 01/19/2023]  Open
48
Jiang D, Li T, Guo C, Tang TS, Liu H. Small molecule modulators of chromatin remodeling: from neurodevelopment to neurodegeneration. Cell Biosci 2023;13:10. [PMID: 36647159 PMCID: PMC9841685 DOI: 10.1186/s13578-023-00953-4] [Citation(s) in RCA: 21] [Impact Index Per Article: 10.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/22/2022] [Accepted: 01/03/2023] [Indexed: 01/18/2023]  Open
49
Lee SY, Kweon H, Kang H, Kim E. Age-differential sexual dimorphisms in CHD8-S62X-mutant mouse synapses and transcriptomes. Front Mol Neurosci 2023;16:1111388. [PMID: 36873104 PMCID: PMC9978779 DOI: 10.3389/fnmol.2023.1111388] [Citation(s) in RCA: 3] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/29/2022] [Accepted: 01/18/2023] [Indexed: 02/18/2023]  Open
50
Kerschbamer E, Arnoldi M, Tripathi T, Pellegrini M, Maturi S, Erdin S, Salviato E, Di Leva F, Sebestyén E, Dassi E, Zarantonello G, Benelli M, Campos E, Basson M, Gusella J, Gustincich S, Piazza S, Demichelis F, Talkowski M, Ferrari F, Biagioli M. CHD8 suppression impacts on histone H3 lysine 36 trimethylation and alters RNA alternative splicing. Nucleic Acids Res 2022;50:12809-12828. [PMID: 36537238 PMCID: PMC9825192 DOI: 10.1093/nar/gkac1134] [Citation(s) in RCA: 9] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/18/2021] [Revised: 11/03/2022] [Accepted: 11/10/2022] [Indexed: 12/24/2022]  Open
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