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1993 1
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114 results

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Page 1
Non-synaptic function of the autism spectrum disorder-associated gene SYNGAP1 in cortical neurogenesis.
Birtele M, Del Dosso A, Xu T, Nguyen T, Wilkinson B, Hosseini N, Nguyen S, Urenda JP, Knight G, Rojas C, Flores I, Atamian A, Moore R, Sharma R, Pirrotte P, Ashton RS, Huang EJ, Rumbaugh G, Coba MP, Quadrato G. Birtele M, et al. Nat Neurosci. 2023 Dec;26(12):2090-2103. doi: 10.1038/s41593-023-01477-3. Epub 2023 Nov 9. Nat Neurosci. 2023. PMID: 37946050 Free PMC article.
Genes involved in synaptic function are enriched among those with autism spectrum disorder (ASD)-associated rare genetic variants. Dysregulated cortical neurogenesis has been implicated as a convergent mechanism in ASD pathophysiology, yet it remains unknown how 'sy …
Genes involved in synaptic function are enriched among those with autism spectrum disorder (ASD)-associated rare genetic varia …
Autism spectrum disorder: neuropathology and animal models.
Varghese M, Keshav N, Jacot-Descombes S, Warda T, Wicinski B, Dickstein DL, Harony-Nicolas H, De Rubeis S, Drapeau E, Buxbaum JD, Hof PR. Varghese M, et al. Acta Neuropathol. 2017 Oct;134(4):537-566. doi: 10.1007/s00401-017-1736-4. Epub 2017 Jun 5. Acta Neuropathol. 2017. PMID: 28584888 Free PMC article. Review.
Autism spectrum disorder (ASD) has a major impact on the development and social integration of affected individuals and is the most heritable of psychiatric disorders. ...Genetically modified models include those based on well-studied monogenic ASD genes (NLGN3, NLG …
Autism spectrum disorder (ASD) has a major impact on the development and social integration of affected individuals and is the …
Upregulation of SYNGAP1 expression in mice and human neurons by redirecting alternative splicing.
Yang R, Feng X, Arias-Cavieres A, Mitchell RM, Polo A, Hu K, Zhong R, Qi C, Zhang RS, Westneat N, Portillo CA, Nobrega MA, Hansel C, Garcia Iii AJ, Zhang X. Yang R, et al. Neuron. 2023 May 17;111(10):1637-1650.e5. doi: 10.1016/j.neuron.2023.02.021. Epub 2023 Mar 13. Neuron. 2023. PMID: 36917980 Free PMC article.
The Ras GTPase-activating protein SYNGAP1 plays a central role in synaptic plasticity, and de novo SYNGAP1 mutations are among the most frequent causes of autism and intellectual disability. ...We demonstrate that PTBP1/2 directly bind to and promote SYNGA …
The Ras GTPase-activating protein SYNGAP1 plays a central role in synaptic plasticity, and de novo SYNGAP1 mutations are among …
SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.
Vlaskamp DRM, Shaw BJ, Burgess R, Mei D, Montomoli M, Xie H, Myers CT, Bennett MF, XiangWei W, Williams D, Maas SM, Brooks AS, Mancini GMS, van de Laar IMBH, van Hagen JM, Ware TL, Webster RI, Malone S, Berkovic SF, Kalnins RM, Sicca F, Korenke GC, van Ravenswaaij-Arts CMA, Hildebrand MS, Mefford HC, Jiang Y, Guerrini R, Scheffer IE. Vlaskamp DRM, et al. Neurology. 2019 Jan 8;92(2):e96-e107. doi: 10.1212/WNL.0000000000006729. Epub 2018 Dec 12. Neurology. 2019. PMID: 30541864 Free PMC article.
We included patients with (likely) pathogenic SYNGAP1 variants or chromosome 6p21.32 microdeletions incorporating SYNGAP1. We analyzed patients' phenotypes using a standardized epilepsy questionnaire, medical records, EEG, MRI, and seizure videos. ...Other common fe …
We included patients with (likely) pathogenic SYNGAP1 variants or chromosome 6p21.32 microdeletions incorporating SYNGAP1. We …
SYNGAP1-Related Intellectual Disability.
Holder JL Jr, Hamdan FF, Michaud JL. Holder JL Jr, et al. 2019 Feb 21. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2019 Feb 21. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 30789692 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: SYNGAP1-related intellectual disability (SYNGAP1-ID) is characterized by developmental delay (DD) or intellectual disability (ID) (100% of affected individuals), generalized epilepsy (~84%), and autism spectrum disorder (ASD) …
CLINICAL CHARACTERISTICS: SYNGAP1-related intellectual disability (SYNGAP1-ID) is characterized by developmental delay (DD) or …
Mnk1/2 kinases regulate memory and autism-related behaviours via Syngap1.
Chalkiadaki K, Hooshmandi M, Lach G, Statoulla E, Simbriger K, Amorim IS, Kouloulia S, Zafeiri M, Pothos P, Bonneil É, Gantois I, Popic J, Kim SH, Wong C, Cao R, Komiyama NH, Atlasi Y, Jafarnejad SM, Khoutorsky A, Gkogkas CG. Chalkiadaki K, et al. Brain. 2023 May 2;146(5):2175-2190. doi: 10.1093/brain/awac398. Brain. 2023. PMID: 36315645 Free PMC article.
Knockdown of Syngap1 reversed memory deficits in Mnk double knockout mice and pharmacological inhibition of Mnks rescued autism-related phenotypes in Syngap1+/- mice. Thus, Syngap1 is a downstream effector of Mnk1, and the Mnks-Syngap1 axis regu …
Knockdown of Syngap1 reversed memory deficits in Mnk double knockout mice and pharmacological inhibition of Mnks rescued autism …
Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders.
Turner TN, Wilfert AB, Bakken TE, Bernier RA, Pepper MR, Zhang Z, Torene RI, Retterer K, Eichler EE. Turner TN, et al. Am J Hum Genet. 2019 Dec 5;105(6):1274-1285. doi: 10.1016/j.ajhg.2019.11.003. Epub 2019 Nov 27. Am J Hum Genet. 2019. PMID: 31785789 Free PMC article.
As expected, we observe significant enrichment on the X chromosome for females but also find autosomal genes with potential sex bias (females, CDK13, ITPR1; males, CHD8, MBD5, SYNGAP1); 6.5% of females harbor a DNM in a female-enriched gene, whereas 2.7% of males have a DN …
As expected, we observe significant enrichment on the X chromosome for females but also find autosomal genes with potential sex bias (female …
SYNGAP1: Mind the Gap.
Jeyabalan N, Clement JP. Jeyabalan N, et al. Front Cell Neurosci. 2016 Feb 15;10:32. doi: 10.3389/fncel.2016.00032. eCollection 2016. Front Cell Neurosci. 2016. PMID: 26912996 Free PMC article. Review.
Investigation of the underlying mechanisms using gain or loss of function approaches has revealed alterations in dendritic spine structure, function, and plasticity, consequently modulating the neuronal circuit formation and thereby raising the possibility of neurodevelopmental d …
Investigation of the underlying mechanisms using gain or loss of function approaches has revealed alterations in dendritic spine structure, …
New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing.
Bruno LP, Doddato G, Valentino F, Baldassarri M, Tita R, Fallerini C, Bruttini M, Lo Rizzo C, Mencarelli MA, Mari F, Pinto AM, Fava F, Fabbiani A, Lamacchia V, Carrer A, Caputo V, Granata S, Benetti E, Zguro K, Furini S, Renieri A, Ariani F. Bruno LP, et al. Int J Mol Sci. 2021 Dec 14;22(24):13439. doi: 10.3390/ijms222413439. Int J Mol Sci. 2021. PMID: 34948243 Free PMC article. Clinical Trial.
It encompasses a clinically and genetically heterogeneous group of neurodevelopmental disorders often associated with autism spectrum disorder (ASD). Social and communication abilities are strongly compromised in ASD. ...Here, we performed parent-offspring trio whol …
It encompasses a clinically and genetically heterogeneous group of neurodevelopmental disorders often associated with autism spectrum …
Species-conserved SYNGAP1 phenotypes associated with neurodevelopmental disorders.
Kilinc M, Creson T, Rojas C, Aceti M, Ellegood J, Vaissiere T, Lerch JP, Rumbaugh G. Kilinc M, et al. Mol Cell Neurosci. 2018 Sep;91:140-150. doi: 10.1016/j.mcn.2018.03.008. Epub 2018 Mar 24. Mol Cell Neurosci. 2018. PMID: 29580901 Free PMC article. Review.
SYNGAP1 loss-of-function variants are causally associated with intellectual disability, severe epilepsy, autism spectrum disorder and schizophrenia. ...Two additional domains are defined by integrating the current literature with new data indicating that S …
SYNGAP1 loss-of-function variants are causally associated with intellectual disability, severe epilepsy, autism spectrum di …
114 results