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Page 1
Mouse models of SYNGAP1-related intellectual disability.
Araki Y, Gerber EE, Rajkovich KE, Hong I, Johnson RC, Lee HK, Kirkwood A, Huganir RL. Araki Y, et al. Proc Natl Acad Sci U S A. 2023 Sep 12;120(37):e2308891120. doi: 10.1073/pnas.2308891120. Epub 2023 Sep 5. Proc Natl Acad Sci U S A. 2023. PMID: 37669379 Free PMC article.
Studies in rodent neurons have shown that Syngap1 regulates developing excitatory synapse structure and function, and heterozygous Syngap1 knockout mice have deficits in synaptic plasticity, learning, and memory and have seizures. ...To explore this, we utili …
Studies in rodent neurons have shown that Syngap1 regulates developing excitatory synapse structure and function, and heterozygous …
Mouse models of SYNGAP1 -related intellectual disability.
Araki Y, Gerber EE, Rajkovich KE, Hong I, Johnson RC, Lee HK, Kirkwood A, Huganir RL. Araki Y, et al. bioRxiv [Preprint]. 2023 May 26:2023.05.25.542312. doi: 10.1101/2023.05.25.542312. bioRxiv. 2023. PMID: 37293116 Free PMC article. Updated. Preprint.
Both SRID mouse models show 3550% reduction in mRNA and 50% reduction in Syngap1 protein.Both SRID mouse models display deficits in synaptic plasticity and behavioral phenotypes found in people. RNA-seq confirmed cryptic splice acceptor activity in one SRID …
Both SRID mouse models show 3550% reduction in mRNA and 50% reduction in Syngap1 protein.Both SRID mouse models display …
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
We demonstrate that PTBP1/2 directly bind to and promote SYNGAP1 A3SS inclusion. Genetic deletion of the Syngap1 A3SS in mice upregulates Syngap1 protein and alleviates the long-term potentiation and membrane excitability deficits caused by a Syngap …
We demonstrate that PTBP1/2 directly bind to and promote SYNGAP1 A3SS inclusion. Genetic deletion of the Syngap1 A3SS in mi …
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
Here, we show that the synaptic Ras GTPase-activating (RASGAP) protein 1 (SYNGAP1, a top ASD risk gene) is expressed within the apical domain of human radial glia cells (hRGCs). ...Additionally, we confirmed an imbalance in the ratio of progenitors to neurons in a mouse …
Here, we show that the synaptic Ras GTPase-activating (RASGAP) protein 1 (SYNGAP1, a top ASD risk gene) is expressed within the apica …
Syngap1 Disruption Induced by Recombination between Inverted loxP Sites Is Associated with Hippocampal Interneuron Dysfunction.
Khlaifia A, Jadhav V, Danik M, Badra T, Berryer MH, Dionne-Laporte A, Chattopadhyaya B, Di Cristo G, Lacaille JC, Michaud JL. Khlaifia A, et al. eNeuro. 2023 May 5;10(5):ENEURO.0475-22.2023. doi: 10.1523/ENEURO.0475-22.2023. Print 2023 May. eNeuro. 2023. PMID: 37072176 Free PMC article.
SYNGAP1 is highly expressed in cortical excitatory neurons and, reducing its expression in mice accelerates the maturation of excitatory synapses during sensitive developmental periods, restricts the critical period window for plasticity, and impairs cognition. ...T …
SYNGAP1 is highly expressed in cortical excitatory neurons and, reducing its expression in mice accelerates the maturation of …
Hyperexcitability and translational phenotypes in a preclinical model of SYNGAP1 mutations.
Silverman JL, Fenton T, Haouchine O, Hallam E, Smith E, Jackson K, Rahbarian D, Canales C, Adhikari A, Nord A, Ben-Shalom R. Silverman JL, et al. Res Sq [Preprint]. 2023 Sep 13:rs.3.rs-3246655. doi: 10.21203/rs.3.rs-3246655/v1. Res Sq. 2023. PMID: 37790402 Free PMC article. Preprint.
Primary neurons from Syngap1(+/-) mice displayed increased network firing activity, greater spikes per burst, and shorter inter-burst intervals between peaks using high density micro-electrode arrays (HD-MEA). This work is translational, innovative, and highly signi …
Primary neurons from Syngap1(+/-) mice displayed increased network firing activity, greater spikes per burst, and shorter inte …
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.
We identified the synaptic Ras GTPase activating protein 1 (Syngap1), encoded by a syndromic autism gene, as a downstream target of Mnk1 because Syngap1 immunoprecipitated with Mnk1 and showed reduced phosphorylation (S788) in Mnk double knockout mice. Knockd …
We identified the synaptic Ras GTPase activating protein 1 (Syngap1), encoded by a syndromic autism gene, as a downstream target of M …
Interneuron-Targeted Disruption of SYNGAP1 Alters Sensory Representations in the Neocortex and Impairs Sensory Learning.
Zhao M, Kwon SE. Zhao M, et al. J Neurosci. 2023 Aug 30;43(35):6212-6226. doi: 10.1523/JNEUROSCI.1997-22.2023. Epub 2023 Aug 9. J Neurosci. 2023. PMID: 37558489 Free PMC article.
In summary, our findings indicate that a reduction of SynGAP in inhibitory interneurons impairs sensory representation in the primary sensory cortex by disrupting neuronal correlations, which likely contributes to the observed cognitive deficits in mice with pan-neuronal …
In summary, our findings indicate that a reduction of SynGAP in inhibitory interneurons impairs sensory representation in the primary sensor …
Sensorimotor Integration Supporting Perception Requires Syngap1 Expression in Cortex.
Vaissiere T, Michaelson S, Creson T, Goins J, Fürth D, Balazsfi D, Rojas C, Golovin R, Meletis K, Miller CA, O'Connor D, Rumbaugh G. Vaissiere T, et al. bioRxiv [Preprint]. 2023 Sep 27:2023.09.27.559787. doi: 10.1101/2023.09.27.559787. bioRxiv. 2023. PMID: 37808765 Free PMC article. Preprint.
Here, we demonstrate that expression of the autism/intellectual disability gene, Syngap1, in mouse cortical excitatory neurons promotes touch sensitivity required to elicit perceptual behaviors. ...Deficient Syngap1 expression likely contributes to cognitive …
Here, we demonstrate that expression of the autism/intellectual disability gene, Syngap1, in mouse cortical excitatory neurons …
RNA-based translation activators for targeted gene upregulation.
Cao Y, Liu H, Lu SS, Jones KA, Govind AP, Jeyifous O, Simmons CQ, Tabatabaei N, Green WN, Holder JL Jr, Tahmasebi S, George AL Jr, Dickinson BC. Cao Y, et al. Nat Commun. 2023 Oct 26;14(1):6827. doi: 10.1038/s41467-023-42252-z. Nat Commun. 2023. PMID: 37884512 Free PMC article.
We minimize the taRNA scaffold to 94 nucleotides, identify two translation initiation factor proteins responsible for taRNA activity, and validate the technology by amplifying SYNGAP1 expression, a haploinsufficiency disease target, in patient-derived cells. Finally, taRNA …
We minimize the taRNA scaffold to 94 nucleotides, identify two translation initiation factor proteins responsible for taRNA activity, and va …
15 results