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Mutation Report for: R451C_mouse-3neur

Mode of mutation|Site directed mutagenesis
Amino Acid change|R451C
Torpedo number|388
    Title: Glucocorticoids rescue cell surface trafficking of R451C Neuroligin3 and enhance synapse formation
    Diamanti T, Trobiani L, Mautone L, Serafini F, Gioia R, Ferrucci L, Lauro C, Bianchi S, Perfetto C and De Jaco A <9 more author(s)>
    Ref: Traffic, 25:e12930, 2024 : PubMed


    Title: Faster Gastrointestinal Transit, Reduced Small Intestinal Smooth Muscle Tone and Dysmotility in the Nlgn3(R451C) Mouse Model of Autism
    Hosie S, Abo-Shaban T, Mou K, Balasuriya GK, Mohsenipour M, Alamoudi MU, Filippone RT, Belz GT, Franks AE and Hill-Yardin EL <2 more author(s)>
    Ref: Int J Mol Sci, 25:, 2024 : PubMed


    Title: Mice with an autism-associated R451C mutation in neuroligin-3 show intact attention orienting but atypical responses to methylphenidate and atomoxetine in the mouse-Posner task
    Li S, May C, Pang TY, Churilov L, Hannan AJ, Johnson KA, Burrows EL
    Ref: Psychopharmacology (Berl), :, 2024 : PubMed


    Title: Impaired cecal motility and secretion alongside expansion of gut-associated lymphoid tissue in the Nlgn3(R451C) mouse model of autism
    Lee CYQ, Balasuriya GK, Herath M, Franks AE, Hill-Yardin EL
    Ref: Sci Rep, 13:12687, 2023 : PubMed


    Title: NMDA receptor hypofunction underlies deficits in parvalbumin interneurons and social behavior in neuroligin 3 R451C knockin mice
    Cao W, Li JH, Lin S, Xia QQ, Du YL, Yang Q, Ye YZ, Zeng LH, Li XY and Luo JH <1 more author(s)>
    Ref: Cell Rep, 41:111771, 2022 : PubMed


    Title: The Emerging Role of the Gut-Brain-Microbiota Axis in Neurodevelopmental Disorders
    Hosie S, Abo-Shaban T, Lee CYQ, Matta SM, Shindler A, Gore R, Sharna SS, Herath M, Crack PJ and Hill-Yardin EL <1 more author(s)>
    Ref: Advances in Experimental Medicine & Biology, 1383:141, 2022 : PubMed


    Title: Analyses of the autism-associated neuroligin-3 R451C mutation in human neurons reveal a gain-of-function synaptic mechanism
    Wang L, Mirabella VR, Dai R, Su X, Xu R, Jadali A, Bernabucci M, Singh I, Chen Y and Pang ZP <9 more author(s)>
    Ref: Mol Psychiatry, :, 2022 : PubMed


    Title: Mice with an autism-associated R451C mutation in neuroligin-3 show a cautious but accurate response style in touchscreen attention tasks
    Burrows EL, May C, Hill T, Churliov L, Johnson KA, Hannan AJ
    Ref: Genes Brain Behav, :e12757, 2021 : PubMed


    Title: An Autism-Associated Neuroligin-3 Mutation Affects Developmental Synapse Elimination in the Cerebellum
    Lai ESK, Nakayama H, Miyazaki T, Nakazawa T, Tabuchi K, Hashimoto K, Watanabe M, Kano M
    Ref: Front Neural Circuits, 15:676891, 2021 : PubMed


    Title: Environmental enrichment modulates affiliative and aggressive social behaviour in the neuroligin-3 R451C mouse model of autism spectrum disorder
    Burrows EL, Koyama L, May C, Hill-Yardin EL, Hannan AJ
    Ref: Pharmacol Biochem Behav, 195:172955, 2020 : PubMed


    Title: An altered glial phenotype in the NL3(R451C) mouse model of autism
    Matta SM, Moore Z, Walker FR, Hill-Yardin EL, Crack PJ
    Ref: Sci Rep, 10:14492, 2020 : PubMed


    Title: Altered Caecal Neuroimmune Interactions in the Neuroligin-3(R451C) Mouse Model of Autism
    Sharna SS, Balasuriya GK, Hosie S, Nithianantharajah J, Franks AE, Hill-Yardin EL
    Ref: Front Cell Neurosci, 14:85, 2020 : PubMed


    Title: Gastrointestinal dysfunction in patients and mice expressing the autism-associated R451C mutation in neuroligin-3
    Hosie S, Ellis M, Swaminathan M, Ramalhosa F, Seger GO, Balasuriya GK, Gillberg C, Rastam M, Churilov L and Hill-Yardin EL <9 more author(s)>
    Ref: Autism Res, 12:1043, 2019 : PubMed


    Title: Mutations in neuroligin-3 in male mice impact behavioral flexibility but not relational memory in a touchscreen test of visual transitive inference
    Norris RHC, Churilov L, Hannan AJ, Nithianantharajah J
    Ref: Mol Autism, 10:42, 2019 : PubMed


    Title: Gamma Oscillation Dysfunction in mPFC Leads to Social Deficits in Neuroligin 3 R451C Knockin Mice
    Cao W, Lin S, Xia QQ, Du YL, Yang Q, Zhang MY, Lu YQ, Xu J, Duan SM and Luo JH <2 more author(s)>
    Ref: Neuron, 97:1253, 2018 : PubMed


    Title: Altered Amygdala Excitation and CB1 Receptor Modulation of Aggressive Behavior in the Neuroligin-3(R451C) Mouse Model of Autism
    Hosie S, Malone DT, Liu S, Glass M, Adlard PA, Hannan AJ, Hill-Yardin EL
    Ref: Front Cell Neurosci, 12:234, 2018 : PubMed


    Title: The neurobiological bases of autism spectrum disorders: the R451C-neuroligin 3 mutation hampers the expression of long-term synaptic depression in the dorsal striatum
    Martella G, Meringolo M, Trobiani L, De Jaco A, Pisani A, Bonsi P
    Ref: European Journal of Neuroscience, 47:701, 2018 : PubMed


    Title: Social Isolation Alters Social and Mating Behavior in the R451C Neuroligin Mouse Model of Autism
    Burrows EL, Eastwood AF, May C, Kolbe SC, Hill T, McLachlan NM, Churilov L, Hannan AJ
    Ref: Neural Plast, 2017:8361290, 2017 : PubMed


    Title: A neuroligin-3 mutation implicated in autism causes abnormal aggression and increases repetitive behavior in mice
    Burrows EL, Laskaris L, Koyama L, Churilov L, Bornstein JC, Hill-Yardin EL, Hannan AJ
    Ref: Mol Autism, 6:62, 2015 : PubMed


    Title: Reduced susceptibility to induced seizures in the Neuroligin-3(R451C) mouse model of autism
    Hill-Yardin EL, Argyropoulos A, Hosie S, Rind G, Anderson P, Hannan AJ, O'Brien TJ
    Ref: Neuroscience Letters, 589:57, 2015 : PubMed


    Title: Autism-related neuroligin-3 mutation alters social behavior and spatial learning
    Jaramillo TC, Liu S, Pettersen A, Birnbaum SG, Powell CM
    Ref: Autism Res, 7:264, 2014 : PubMed


    Title: Autism-linked neuroligin-3 R451C mutation differentially alters hippocampal and cortical synaptic function
    Etherton M, Foldy C, Sharma M, Tabuchi K, Liu X, Shamloo M, Malenka RC, Sudhof TC
    Ref: Proc Natl Acad Sci U S A, 108:13764, 2011 : PubMed


    Title: Minimal aberrant behavioral phenotypes of neuroligin-3 R451C knockin mice
    Chadman KK, Gong S, Scattoni ML, Boltuck SE, Gandhy SU, Heintz N, Crawley JN
    Ref: Autism Res, 1:147, 2008 : PubMed


    Title: A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice
    Tabuchi K, Blundell J, Etherton MR, Hammer RE, Liu X, Powell CM, Sudhof TC
    Ref: Science, 318:71, 2007 : PubMed


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Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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