Pathogenic SYNGAP1 Mutations Impair Cognitive Development by Disrupting Maturation of Dendritic Spine Synapses
Clement, James P., Aceti, Massimiliano, Creson, Thomas K., Ozkan, Emin D., Shi, Yulin, Reish, Nicholas J., Almonte, Antoine G., Miller, Brooke H. +4 more·2012·Cell
Cited by (385)
Items 201–300 of 385
- Developmental and Epileptic Encephalopathy: Pathogenesis of Intellectual Disability Beyond ChannelopathiesAlexandra D. Medyanik, Polina E. Anisimova, Angelina O. Kustova, Victor S. Tarabykin, Elena V. Kondakova · 2025 · Biomolecules
- Developmental Connectivity and Molecular Phenotypes of Unique Cortical Projection Neurons that Express a Synapse-Associated Receptor Tyrosine KinaseRyan J. Kast, Hsiao‐Huei Wu, Pat R. Levitt · 2017 · Cerebral Cortex
- Methamphetamine Learning Induces Persistent and Selective Nonmuscle Myosin II-Dependent Spine Motility in the Basolateral AmygdalaErica J. Young, Lin Hua, Theodore M. Kamenecka, Gavin Rumbaugh, Courtney A. Miller · 2020 · Journal of Neuroscience
- Temporal control of neuronal wiringSaumya Jain, S Lawrence Zipursky · 2022 · Seminars in Cell and Developmental Biology
- Input‐specific regulation of hippocampal circuit maturation by non‐muscle myosin IIBEmin D. Ozkan, Massimiliano Aceti, Thomas K. Creson, Camilo Rojas, Christopher Hubbs, Megan N. McGuire, Priyanka Prakash Kakad, Courtney A. Miller, Gavin Rumbaugh · 2015 · Journal of Neurochemistry
- Transition between synaptic branch formation and synaptogenesis is regulated by the lin-4 microRNAYan Fang Xu, Christopher C. Quinn · 2016 · Developmental Biology
- Increased Excitatory Synaptic Transmission of Dentate Granule Neurons in Mice Lacking PSD-95-Interacting Adhesion Molecule Neph2/Kirrel3 during the Early Postnatal PeriodJunyeop Daniel Roh, Su‐Yeon Choi, Yi Sul Cho, Tae-Yong Choi, Jong-Sil Park, Tyler Cutforth, Woosuk Chung, Hanwool Park, Dongsoo Lee, Myeong-Heui Kim et al. · 2017 · Frontiers in Molecular Neuroscience
- Identification of an individual with a SYNGAP1 pathogenic mutation in IndiaVijaya Verma, Amit Mandora, Abhijeet Vilas Botre, James Premdoss Clement · 2020 · Molecular Biology Reports
- Sex-specific perturbations of neuronal development caused by mutations in the autism risk gene DDX3XAdele Mossa, Lauren Dierdorff, Jerónimo Lukin, Marta García-Forn, Wei Wang, Fatemeh Mamashli, Yeaji Park, Chiara Fiorenzani, Zeynep Akpinar, Janine Kamps et al. · 2025 · Nature Communications
- Wnt-related SynGAP1 is a neuroprotective factor of glutamatergic synapses against Aβ oligomersJuan Francisco Codocedo, Carla Montecinos-Oliva, Nibaldo C. Inestrosa · 2015 · Frontiers in Cellular Neuroscience
- Noonan syndrome-associated SHP2 mutation differentially modulates the expression of postsynaptic receptors according to developmental maturationJun-Young Oh, Sangmyung Rhee, Alcino J. Silva, Yong‐Seok Lee, Hyong Kyu Kim · 2017 · Neuroscience Letters
- Experiential modulation of social dominance in a SYNGAP1 rat model of Autism Spectrum DisordersEmma Harris, Honor Myers, Kapil Saxena, Rufus Mitchell‐Heggs, Peter C. Kind, Sumantra Chattarji, Richard Morris · 2021 · European Journal of Neuroscience
- Pharmacological intervention in young adolescents rescues synaptic physiology and behavioural deficits in Syngap1+/− miceVijaya Verma, Manjeet Kumar, Kavita Sharma, Sridhar Rajaram, Ravi Sondekoppa Muddashetty, Ravi R. Manjithaya, Thomas Behnisch, James Premdoss Clement · 2021 · Experimental Brain Research
- Module 12: Signalling Defects and DiseaseMichael John Berridge · 2012 · Cell Signalling Biology
- Disruption of MET Receptor Tyrosine Kinase, an Autism Risk Factor, Impairs Developmental Synaptic Plasticity in the HippocampusXiao-Kuang Ma, Ke Chen, Zhong-Min Lu, M. Piechowicz, Qiang Liu, Jie Wu, Shen-Feng Qiu · 2018 · Developmental Neurobiology
- Rodent genetic models of neurodevelopmental disorders and epilepsyAlfredo Gonzalez‐Sulser · 2019 · European Journal of Paediatric Neurology
- Protein synthesis as a modifiable target for autism‐related dendritic spine pathophysiologiesMing‐Hsuan Lu, Yi‐Ping Hsueh · 2021 · FEBS Journal
- Syngap1Disruption Induced by Recombination between Inverted loxP Sites Is Associated with Hippocampal Interneuron DysfunctionAbdessattar Khlaifia, Vidya Jadhav, Marc Danik, Théo Badra, Martin H. Berryer, Alexandre Dionne‐Laporte, Bidisha Chattopadhyaya, Graziella Di Cristo, Jean‐Claude Lacaille, Jacques L. Michaud · 2023 · eNeuro
- Understanding the role of AMPA receptors in autism: insights from circuit and synapse dysfunctionAndrés Jiménez-Gómez, Megan X. Nguyen, Jason S. Gill · 2024 · Frontiers in Psychiatry
- Hyperexcitability and translational phenotypes in a preclinical mouse model of SYNGAP1-related intellectual disabilityTimothy A. Fenton, Olivia Y Haouchine, Elizabeth B Hallam, Emily M. Smith, Kiya C. Jackson, Darlene Rahbarian, César P. Canales, Anna Adhikari, Alex S. Nord, Roy Ben‐Shalom et al. · 2024 · Translational Psychiatry
- Neuronal Synapses: Microscale Signal Processing Machineries Formed by Phase Separation?Zhe Feng, Menglong Zeng, Xudong Chen, Mingjie Zhang · 2018 · Biochemistry
- Regulation of Rap GTPases in mammalian neuronsBhavin Shah, Andreas W. Püschel · 2016 · Biological Chemistry
- Apparent Genetic Rescue of AdultShank3Exon 21 Insertion Mutation Mice Tempered by Appropriate Control ExperimentsHaley E. Speed, Mehreen Kouser, Zhong Xuan, Shunan Liu, Anne A. Duong, Craig M. Powell · 2019 · eNeuro
- AAV delivery of full-length SYNGAP1 rescues epileptic and behavioral phenotypes in a mouse model of SYNGAP1-related disordersMeagan A. Quinlan, Rong Guo, Andrew G. Clark, Emily M. Luber, Robert J. Christian, Refugio A. Martinez, Erin L Groce, Jiatai Liu, Yemeserach M. Bishaw, Ravi Bhowmik et al. · 2025 · Molecular Therapy
- Critical periods and Autism Spectrum Disorders, a role for sleepElizabeth Medina, Sarah Peterson, Kaitlyn Ford, Kristan G. Singletary, Lucı́a Peixoto · 2022 · Neurobiology of Sleep and Circadian Rhythms
- Haploinsufficiency ofSyngap1in Striatal Indirect Pathway Neurons Alters Motor and Goal-Directed Behaviors in MiceLaura M. Haetzel, Jillian Iafrati, Katherine R Cording, Mahmoud Farhan, Sasan D. Noveir, Gavin Rumbaugh, Helen S. Bateup · 2024 · Journal of Neuroscience
- Syngap1 promotes cognitive function through regulation of cortical sensorimotor dynamicsThomas Vaissière, Sheldon D. Michaelson, Thomas K. Creson, Jessie Goins, Daniel Fürth, Diána Balázsfi, Camilo Rojas, Randall M. Golovin, Konstantinos Meletis, Courtney A. Miller et al. · 2025 · Nature Communications
- Epigenetic modulation rescues neurodevelopmental deficits in Syngap1+/− miceAkash Kumar Singh, Ila Joshi, Neeharika M. N. Reddy, Sushmitha S. Purushotham, Muthusamy Eswaramoorthy, Madavan Vasudevan, Sourav Banerjee, James Premdoss Clement, Tapas Kumar Kundu · 2025 · Aging Cell
- Reversibility and therapeutic development for neurodevelopmental disorders, insights from genetic animal modelsPlaton Megagiannis, Rahul Suresh, Guy Armand Rouleau, Yang Zhou · 2022 · Advanced Drug Delivery Reviews
- The importance of de novo mutations for pediatric neurological disease—It is not all in utero or birth traumaRobert P. Erickson · 2016 · Mutation Research/Reviews in Mutation Research
- Differential auditory brain response abnormalities in two intellectual disability conditions: SYNGAP1 mutations and Down syndromeValérie Côté, Inga Sophia Knoth, Kristian Agbogba, Phetsamone Vannasing, Lucie Côté, Philippe Major, Jacques L. Michaud, Fanny Barlaam, Sarah Lippé · 2021 · Clinical Neurophysiology
- Human synaptic neoteny requires species-specific balancing of SRGAP2-SYNGAP1 cross-inhibitionBaptiste Libé‐Philippot, Ryohei Iwata, Aleksandra J. Recupero, Keimpe D. B. Wierda, Martyna Ditkowska, Vaiva Gaspariunaite, Ben Vermaercke, Eugénie Pezé-Heidsieck, Daan Remans, Cécile Charrier et al. · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
- Interactions between Ras and Rap signaling pathways during neurodevelopment in health and diseaseSalvatore J. Cherra, Reagan Lamb · 2024 · Frontiers in Molecular Neuroscience
- Derepression of inflammation-related genes link to microglia activation and neural maturation defect in a mouse model of Kleefstra syndromeAyumi Yamada, Takae Hirasawa, Kayako Nishimura, Chikako Shimura, Naomi Kogo, Kei Fukuda, Madoka Kato, Masaki Yokomori, Tetsutaro Hayashi, Mana Umeda et al. · 2021 · iScience
- The Fine Art of Writing a Message: RNA Metabolism in the Shaping and Remodeling of the Nervous SystemM Macías, Olivier Urwyler · 2021 · Frontiers in Molecular Neuroscience
- Review on the role of hippocampus in autism spectrum disorder: recent insights into neuropathology, genetics, and emerging therapeutic strategiesBhamidimarri, Poorna Manasa, Alhosani, Khalood, Cai, Heng, Al-Ali, Haya, Abukhaled, Yara Marwan, Tawamie, Hasan, Abdelaziz, Sahar, Fawaz, Mouna, Kashir, Junaid, Sajjad, Yasmin et al. · 2026 · Neurobiology of Disease
- The SYNGAP1 3′UTR Variant in ALS Patients Causes Aberrant SYNGAP1 Splicing and Dendritic Spine Loss by Recruiting HNRNPKSatoshi Yokoi, Takuji Ito, Kentaro Sahashi, Masahiro Nakatochi, Ryoichi Nakamura, Genki Tohnai, Yusuke Fujioka, Shinsuke Ishigaki, Tsuyoshi Udagawa, Yuishin Izumi et al. · 2022 · Journal of Neuroscience
- SYNGAP-1 Mutation And Catatonia: A Case Series and Systematic ReviewIsaac Baldwin, Alicia Cho, Gabe Orenstein, Natalie Wilner, D. Nicoli, Joshua Ryan Smith · 2024 · Journal of Child and Adolescent Psychopharmacology
- Clinical Transcriptome Sequencing Confirms Activation of a Cryptic Splice Site in Suspected SYNGAP1-Related DisorderElise Brimble, Christopher Lee‐Messer, Péter L. Nagy, Jennifer Propst, Maura R. Z. Ruzhnikov · 2018 · Molecular Syndromology
- Development of neuronal circuits: From synaptogenesis to synapse plasticityGraziella Di Cristo, Bidisha Chattopadhyaya · 2020 · Handbook of clinical neurology
- The Multifarious Hippocampal Functions of MicroRNA-137Aron Kos, Armaz Aschrafi, Nael Nadif Kasri · 2015 · The Neuroscientist
- SynGAP is expressed in the murine suprachiasmatic nucleus and regulates circadian‐gated locomotor activity and light‐entrainment capacitySydney Aten, Anisha Kalidindi, Hyojung Yoon, Gavin Rumbaugh, Kari R. Hoyt, Karl H. Obrietan · 2020 · European Journal of Neuroscience
- Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathyJuliana Ribeiro‐Constante, Alba Tristán‐Noguero, Fernando Francisco Martínez Calvo, Salvador Ibáñez‐Micó, José Luis Peña Segura, José Miguel Ramos‐Fernández, María del Carmen Moyano Chicano, Rafael Camino León, Victor Miguel Soto Insuga, Elena González Alguacil et al. · 2024 · Frontiers in Cell and Developmental Biology
- Adult Camk2a Gene Reinstatement Restores the Learning and Plasticity Deficits of Camk2a Knockout MicePomme M.F. Rigter, Ilse Wallaard, Mehrnoush Aghadavoud Jolfaei, Jenina Kingma, Laura C. Post, Minetta Elgersma, Ype Elgersma, Geeske M. van Woerden · 2022 · iScience
- Developmental Syngap1 Haploinsufficiency in Medial Ganglionic Eminence-Derived Interneurons Impairs Auditory Cortex Activity, Social Behavior, and Extinction of Fear MemoryVidya Jadhav, Maria Isabel Carreño-Muñoz, Pegah Chehrazi, Jacques L. Michaud, Bidisha Chattopadhyaya, Graziella Di Cristo · 2024 · Journal of Neuroscience
- The function of Mef2c toward the development of excitatory and inhibitory cortical neuronsClaire Ward, Lucas Sjulson, Renata Batista‐Brito · 2024 · Frontiers in Cellular Neuroscience
- Investigating the Role of SNARE Proteins in Trafficking of Postsynaptic Receptors using Conditional KnockoutsNa‐Ryum Bin, Mengjia Huang, Shuzo Sugita · 2018 · Neuroscience
- Cyfip1 Regulates SynGAP1 at Hippocampal SynapsesAbhishek Sahasrabudhe, Fatema Begum, Christopher A. Guevara, Chenel Morrison, Kuangfu Hsiao, Nebojsa Kezunovic, Ozlem Bozdagi-Gunal, Deanna L. Benson · 2021 · Frontiers in Synaptic Neuroscience
- A perspective on molecular signalling dysfunction, its clinical relevance and therapeutics in autism spectrum disorderSushmitha S. Purushotham, Neeharika M. N. Reddy, Michelle Ninochka D’Souza, Nilpawan Roy Choudhury, Anusa Ganguly, Niharika Gopalakrishna, Ravi Sondekoppa Muddashetty, James Premdoss Clement · 2022 · Experimental Brain Research
- Large-scale neural circuit mapping data analysis accelerated with the graphical processing unit (GPU)Yulin Shi, Alexander V. Veidenbaum, Alex Nicolau, Xiangmin Xu · 2014 · Journal of Neuroscience Methods
- Disrupted Timing of MET Signaling Derails the Developmental Maturation of Cortical Circuits and Leads to Altered Behavior in MiceXiaokuang Ma, Jing Wei, Yuehua Cui, Baomei Xia, Le Zhang, Antoine Nehme, Yi Zuo, Deveroux Ferguson, Pat R. Levitt, Shenfeng Qiu · 2021 · Cerebral Cortex
- Syngap1 Regulates Cortical Circuit Assembly by Controlling Membrane ExcitabilityVineet Arora, Sheldon D. Michaelson, Massimiliano Aceti, Murat Kilinic, Courtney A. Miller, Gavin Rumbaugh · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
- Syngap1 and the development of murine neocortical progenitor cellsSoraia Barão, Yijun Xu, Ingie Hong, Ulrich W. Mueller, Richard L. Huganir · 2025 · Nature Communications
- Activity-Dependent Stabilization of Nascent Dendritic Spines Requires Nonenzymatic CaMKIIα FunctionNicole Claiborne, Margarita Anisimova, Karen Zito · 2023 · Journal of Neuroscience
- Association of genetic variants with autism spectrum disorder in Japanese children revealed by targeted sequencingYuka Shiota, Tomoaki Nishiyama, Shigeru Yokoyama, Yuko Yoshimura, Chiaki Hasegawa, Sanae Tanaka, Sumie Iwasaki, Mitsuru Kikuchi · 2024 · Frontiers in Genetics
- Unique Sensory and Motor Behavior in Thy1-GFP-M Mice before and after Spinal Cord InjuryTimothy D. Faw, Jessica K. Lerch, Tyler T. Thaxton, Rochelle J. Deibert, Lesley C. Fisher, D. Michele Basso · 2018 · Journal of Neurotrauma
- Adult re-expression of IRSp53 rescues NMDA receptor function and social behavior in IRSp53-mutant miceYoung Woo Noh, Chaehyun Yook, Jaeseung Kang, Soowon Lee, Yeonghyeon Kim, Esther Yang, Hyun Kim, Eunjoon Kim · 2022 · Communications Biology
- Adult mice with noise-induced hearing loss exhibited temporal ordering memory deficits accompanied by microglia-associated neuroplastic changes in the medial prefrontal cortexQian Li, Xiaomin Kang, Linchen Liu, Yu Mei Xiao, Dan Xu, Hong Zhuang, Haiqing Liu, Jingyi Zhao, Han Zou, Jianing Yang et al. · 2023 · Neurobiology of Disease
- The autism-associated gene SYNGAP1 regulates human cortical neurogenesisMarcella Birtele, Ashley Del Dosso, Tiantian Xu, Tuan N. Nguyen, Brent Wilkinson, Negar Hosseini, Sarah C. Nguyen, Jean‐Paul Urenda, Gavin T. Knight, Camilo Rojas et al. · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
- Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic rangeStacy Guzman, Sarah McKeown Ruggiero, Shiva Ganesan, Colin A. Ellis, Abiola Harrison, Katie Rose Sullivan, Zornitza Stark, Natasha J. Brown, Sajel Lala Kana, Anabelle Tuttle et al. · 2025 · The American Journal of Human Genetics
- Epigenomic tomography for probing spatially defined chromatin state in the brainZhengzhi Liu, Chengyu Deng, Zirui Zhou, Ya Xiao, Shan Jiang, Bohan Zhu, Lynette B. Naler, Xiaoting Jia, Danfeng Daphne Yao, Chang Lu · 2024 · Cell Reports Methods
- DNA methylation clocks struggle to distinguish inflammaging from healthy aging, but feature rectification improves coherence and enhances detection of inflammagingColin M. Skinner, Michael J. Conboy, Irina M. Conboy · 2025 · GeroScience
- Enhanced hippocampal LTP but typical NMDA receptor and AMPA receptor function in a novel rat model of CDKL5 deficiency disorderLaura Simões de Oliveira, Heather O’Leary, MS Nawaz, Rita M. Loureiro, Elizabeth C. Davenport, Paul S. Baxter, SR Ribeiro dos Louros, OR Dando, E Perkins, Emily K. Osterweil et al. · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
- Novel De Novo Intronic Variant of SYNGAP1 Associated With the Neurodevelopmental DisordersBaoqiong Liao, Wuming Xie, Mei Shuai, Rutian Liu, Qi Zhang, 洪敏, Shuwen He · 2025 · Molecular Genetics & Genomic Medicine
- SYNGAP1-related disorder: pathophysiology, epilepsy, cognitive and behavioral phenotypes, and precision therapeutic approachesDebopam Samanta · 2026 · Epilepsy & Behavior
- SYNGAP1 ‐related developmental and epileptic encephalopathy: Genotypic and phenotypic characteristics and longitudinal insightsHye Jin Kim, Minhye Kim, Seoyun Jang, Jaeso Cho, Soo Yeon Kim, Anna Cho, Hunmin Kim, Byung Chan Lim, Jong‐Hee Chae, Jieun Choi et al. · 2024 · American Journal of Medical Genetics Part A
- Convergent depression of activity-dependent bulk endocytosis in rodent models of autism spectrum disorderKatherine Bonnycastle, Mohammed Sarfaraz Nawaz, Peter C. Kind, Michael Alan Cousin · 2025 · Molecular Autism
- Inhibition of Rac1 in ventral hippocampal excitatory neurons improves social recognition memory and synaptic plasticityHaiwang Zhang, Youssif Ben Zablah, Haorui Zhang, An Liu, Radu Gugustea, Dongju Lee, Xiao Luo, Yanghong Meng, Song Li, Changxi Zhou et al. · 2022 · Frontiers in Aging Neuroscience
- Physiological and pathological effects of phase separation in the central nervous systemJiaxin Wang, Hongrui Zhu, Ruijia Tian, Qian Zhang, Haoliang Zhang, Jin Jia Hu, Sheng Wang · 2024 · Journal of Molecular Medicine
- Behavioural and neurodevelopmental characteristics of SYNGAP1Nadja F. Bednarczuk, Harriet Housby, Irene Lee, David Skuse, Jeanne Wolstencroft · 2024 · Journal of Neurodevelopmental Disorders
- Novel Mutation of SYNGAP1 Associated with Autosomal Dominant Mental Retardation 5 in a Chinese PatientYuanyuan Pei, Wei Li, Li Lin Du, Fengxiang Wei · 2018 · Fetal and Pediatric Pathology
- CD40L Reverse Signaling Influences Dendrite Spine Morphology and Expression of PSD-95 and Rho Small GTPasesPaulina Carriba, Sean L. Wyatt, Alun Milward Davies · 2020 · Frontiers in Cell and Developmental Biology
- Hyperexcitability and translational phenotypes in a preclinical model of SYNGAP1 mutationsTimothy A. Fenton, Olivia Y Haouchine, Elizabeth L Hallam, Emily M. Smith, Kiya C. Jackson, Darlene Rahbarian, César P. Canales, Anna Adhikari, Alex S. Nord, Roy Ben‐Shalom et al. · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
- Animal models of autismElizabeth L. Berg, Jill L. Silverman · 2022 · Elsevier eBooks
- Critical developmental periods of vulnerability in dystoniaSimon A. Lowe · 2024 · Dystonia
- Hyperactivation of MEK1 in cortical glutamatergic neurons results in projection axon deficits and aberrant motor learningGeorge R. Bjorklund, Katherina P. Rees, Kavya Balasubramanian, Lauren T. Hewitt, Kenji J. Nishimura, Jason M. Newbern · 2024 · Disease Models & Mechanisms
- The Autistic Spectrum Disorders (ASD): From the Clinics to the Molecular AnalysisPierre L. Roubertoux, Sylvie Tordjman · 2014 · Neuromethods
- SynGAP regulates synaptic plasticity and cognition independent of its catalytic activityYoichi Araki, Kacey E. Rajkovich, Elizabeth E. Gerber, Timothy R. Gamache, Richard C. Johnson, Hai Tran, Bian Liu, Ingie Hong, Alfredo Kirkwood, Richard L. Huganir · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
- Mesoscale proximity labeling to study macro changes to chromatin occupancyCameron J. Douglas, Preston N. Samowitz, Feifei Tong, Alice Long, Carolyn Bradley, László Radnai, David W. C. MacMillan, Courtney A. Miller, Gavin Rumbaugh, Ciaran P. Seath · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
- Syngap1 regulates the synaptic drive and membrane excitability of Parvalbumin-positive interneurons in mouse auditory cortexRuggiero Francavilla, Bidisha Chattopadhyaya, Jorelle Linda Damo Kamda, Vidya Jadhav, Saı̈d Kourrich, Jacques L. Michaud, Graziella Di Cristo · 2024 · eLife
- Loss of Necdin causes social deficit and aberrant synaptic function through destabilization of SynGAPXiangyu Li, Ibrahim Bader, Xin Li, Renbin Lu, Dengfeng Liu, Zhiheng Chen, Suixin Deng, Yousheng Shu, Huadie Liu, Jing Zhang et al. · 2025 · Molecular Psychiatry
- Genetic Rescue of Disrupted Synaptic Protein Interaction Network Dynamics Following SYNGAP1 ReactivationVera Stamenković, Felicia M. Harsh, Breann Kniffen, Gavin Rumbaugh, Stephen E.P. Smith · 2026 · Molecular & Cellular Proteomics
- Setting the stage for a role of the postsynaptic proteome in inherited neurometabolic disordersÀlex Bayés · 2018 · Journal of Inherited Metabolic Disease
- Synaptoproteomic Analysis of the Prefrontal Cortex Reveals Spatio-Temporal Changes in SYNGAP1 Following Cannabinoid Exposure in Rat AdolescenceJohanna S. Qvist, María Scherma, Nitya Jayaram‐Lindström, Walter Fratta, Denise Bystryn Kandel, Eric R. Kandel, Paola Fadda, Philippe A. Melas · 2022 · International Journal of Molecular Sciences
- SYNGAP1 deficiency disrupts neoteny in human cortical neurons in vivoBen Vermaercke, Ryohei Iwata, Keimpe Weirda, Leïla Boubakar, Paula Rodríguez, Martyna Ditkowska, Vincent Bonin, Pierre Vanderhaeghen · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
- Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome SequencingGiulia Rosti, Silvia Boeri, Maria Teresa Divizia, Livia Pisciotta, Maria Margherita Mancardi, Margherita Lerone, Maria Cerminara, Martina Servetti, Giovanni Spirito, Diego Vozzi et al. · 2023 · Molecular Syndromology
- SYNGAP-1 developmental and epileptic encephalopathy: Utility of corpus callosotomy and neuromodulationStephanie M. DeGasperis, Rajesh RamachandranNair, Kevin Jones, Robyn Whitney · 2025 · Epilepsy Research
- Molecular Architecture and Neurobiology of the EpilepsiesRyan S. Dhindsa, Daniel H. Lowenstein, David B. Goldstein · 2016 · Elsevier eBooks
- Autism and Fragile X SyndromeHeather O’Leary, Tim A. Benke · 2017 · Elsevier eBooks
- Neuropathology of AutismYarden Kezerle · 2023 · Springer eBooks
- Identification and functional characterization of de novo variant in the SYNGAP1 gene causing intellectual disabilityBoxuan Li, Yu Wang, Dong Hou, Zhen Song, Lihua Zhang, Na Li, Ruifang Yang, Ping Sun · 2023 · Frontiers in Genetics
- Shifting rules in a brain disorderDaniel Choquet · 2024 · Science
- Synaptic Physiology Depends on Electrical Forces and Liquid–Liquid Phase SeparationColin McCaig · 2025 · Reviews of physiology, biochemistry and pharmacology
- Studying of Inhibitory Effect of Salinomycin on Glioblastoma U87 Cells健英 乔 · 2021 · Hans Journal of Biomedicine
- Genetic and Pharmacological Reversibility of Phenotypes in Mouse Models of Autism Spectrum DisorderJan C. Schroeder, Elena Deliu, Gaia Novarino, Michael J. Schmeißer · 2017 · Advances in anatomy, embryology and cell biology
- Estudo de genes candidatos aos Transtornos do Espectro AutistaCintia Marques Ribeiro · 2013
- Hyperactive MEK1 signaling in cortical GABAergic neurons causes embryonic parvalbumin-neuron death and defects in behavioral inhibitionMichael C. Holter, Lauren T. Hewitt, Kenji J. Nishimura, George R. Bjorklund, Shiv Shah, Noah Fry, Katherina P. Rees, Tanya A. Gupta, Carter W. Daniels, Guohui Li et al. · 2019 · bioRxiv (Cold Spring Harbor Laboratory)
- Human SYNGAP1 Regulates the Development of Neuronal Activity by Controlling Dendritic and Synaptic MaturationNerea Llamosas, Vineet Arora, Ridhima Vij, Murat Kılınç, Łukasz Bijoch, Camilo Rojas, Adrian M. Reich, BanuPriya Sridharan, Erik Willems, David R. Piper et al. · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
- Proximity Analysis of Native Proteomes Reveals Interactomes Predictive of Phenotypic Modifiers of Autism and Related Neurodevelopmental ConditionsYudong Gao, Matthew Trn, Daichi Shonai, Jieqing Zhao, Erik J. Soderblom, S. Alexandra Garcia-Moreno, Charles A. Gersbach, William C. Wetsel, Géraldine Dawson, Dmitry Velmeshev et al. · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
- Noradrenergic-dependent restoration of visual discrimination in a mouse model of SYNGAP1 -related disorderDanai Katsanevaki, Nathalie Dupuy, Sam A. Booker, Damien Wright, Aisling Kenny, Zihao Chen, Nina Kudryashova, Pippa Howitt, Andrew C. Stanfield, Peter C. Kind et al. · 2025 · bioRxiv (Cold Spring Harbor Laboratory)