Neuroligin 3 Autism AUTSX1 Asperger syndrome ASPGX1

Alternative name(s) : Asperger syndrome susceptibility, X-linked 1 ASPGX1, Autism, susceptibility to, X-linked\; AUTSX1, Autism Spectrum Disorder

Gene_locus : human-NLGN3

Mutation : 4 mutations R451C_human-NLGN3 R597W_human-NLGN3 P514S_human-NLGN3 V184A_human-NLGN3

OMIM : 300336 , 300425

Comment
(from OMIM) In 2 brothers with autism, one with typical autism and the other with Asperger syndrome, Jamain et al. (2003) identified a mutation in the human-NLGN3 gene. Recently new findings support the neuroligin pathway in autism. In particular the R451C mutant mice (R451C_mouse-3neur<\/A> identical to human mutation R451C_human-NLGN3<\/A>) showed impaired social interactions but enhanced spatial learning abilities. Tabuchi et al.<\/A> Comments in Garber et al.<\/A>, Crawley et al.<\/A> (OMIM 300494 incorporated in 300425

References (30)

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Author(s) : Hosie S , Abo-Shaban T , Mou K , Balasuriya GK , Mohsenipour M , Alamoudi MU , Filippone RT , Belz GT , Franks AE , Bornstein JC , Nurgali K , Hill-Yardin EL
Ref : Int J Mol Sci , 25 : , 2024
PubMedID: 38255906
Gene_locus related to this paper: mouse-3neur

Title : Glucocorticoids rescue cell surface trafficking of R451C Neuroligin3 and enhance synapse formation - Diamanti_2024_Traffic_25_e12930
Author(s) : Diamanti T , Trobiani L , Mautone L , Serafini F , Gioia R , Ferrucci L , Lauro C , Bianchi S , Perfetto C , Guglielmo S , Sollazzo R , Giorda E , Setini A , Ragozzino D , Miranda E , Comoletti D , Di Angelantonio S , Cacci E , De Jaco A
Ref : Traffic , 25 :e12930 , 2024
PubMedID: 38272450
Gene_locus related to this paper: human-NLGN3 , mouse-3neur

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_2024_Psychopharmacology.(Berl)__
Author(s) : Li S , May C , Pang TY , Churilov L , Hannan AJ , Johnson KA , Burrows EL
Ref : Psychopharmacology (Berl) , : , 2024
PubMedID: 38170320
Gene_locus related to this paper: human-NLGN3 , mouse-3neur

Title : Towards understanding sex differences in autism spectrum disorders - Leow_2024_Brain.Res_1833_148877
Author(s) : Leow KQ , Tonta MA , Lu J , Coleman HA , Parkington HC
Ref : Brain Research , 1833 :148877 , 2024
PubMedID: 38513995

Title : Impaired cecal motility and secretion alongside expansion of gut-associated lymphoid tissue in the Nlgn3(R451C) mouse model of autism - Lee_2023_Sci.Rep_13_12687
Author(s) : Lee CYQ , Balasuriya GK , Herath M , Franks AE , Hill-Yardin EL
Ref : Sci Rep , 13 :12687 , 2023
PubMedID: 37542090
Gene_locus related to this paper: mouse-3neur

Title : Genetic analysis of the postsynaptic transmembrane X-linked neuroligin 3 gene in autism - Hegde_2021_Genomics.Inform_19_e44
Author(s) : Hegde R , Hegde S , Kulkarni SS , Pandurangi A , Gai PB , Das KK
Ref : Genomics Inform , 19 :e44 , 2021
PubMedID: 35012288
Gene_locus related to this paper: human-NLGN3

Title : Mice with an autism-associated R451C mutation in neuroligin-3 show a cautious but accurate response style in touchscreen attention tasks - Burrows_2021_Genes.Brain.Behav__e12757
Author(s) : Burrows EL , May C , Hill T , Churliov L , Johnson KA , Hannan AJ
Ref : Genes Brain Behav , :e12757 , 2021
PubMedID: 34085373
Gene_locus related to this paper: human-NLGN3

Title : An Autism-Associated Neuroligin-3 Mutation Affects Developmental Synapse Elimination in the Cerebellum - Lai_2021_Front.Neural.Circuits_15_676891
Author(s) : Lai ESK , Nakayama H , Miyazaki T , Nakazawa T , Tabuchi K , Hashimoto K , Watanabe M , Kano M
Ref : Front Neural Circuits , 15 :676891 , 2021
PubMedID: 34262438
Gene_locus related to this paper: human-NLGN3

Title : The neuroligins and the synaptic pathway in Autism Spectrum Disorder - Trobiani_2020_Neurosci.Biobehav.Rev_119_37
Author(s) : Trobiani L , Meringolo M , Diamanti T , Bourne Y , Marchot P , Martella G , Dini L , Pisani A , De Jaco A , Bonsi P
Ref : Neurosci Biobehav Rev , 119 :37 , 2020
PubMedID: 32991906

Title : Altered Caecal Neuroimmune Interactions in the Neuroligin-3(R451C) Mouse Model of Autism - Sharna_2020_Front.Cell.Neurosci_14_85
Author(s) : Sharna SS , Balasuriya GK , Hosie S , Nithianantharajah J , Franks AE , Hill-Yardin EL
Ref : Front Cell Neurosci , 14 :85 , 2020
PubMedID: 32327975
Gene_locus related to this paper: human-NLGN3

Title : Environmental enrichment modulates affiliative and aggressive social behaviour in the neuroligin-3 R451C mouse model of autism spectrum disorder - Burrows_2020_Pharmacol.Biochem.Behav_195_172955
Author(s) : Burrows EL , Koyama L , May C , Hill-Yardin EL , Hannan AJ
Ref : Pharmacol Biochem Behav , 195 :172955 , 2020
PubMedID: 32474162

Title : Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment - Quartier_2019_Hum.Mutat_40_2021
Author(s) : Quartier A , Courraud J , Thi Ha T , McGillivray G , Isidor B , Rose K , Drouot N , Savidan MA , Feger C , Jagline H , Chelly J , Shaw M , Laumonnier F , Gecz J , Mandel JL , Piton A
Ref : Hum Mutat , 40 :2021 , 2019
PubMedID: 31184401
Gene_locus related to this paper: human-NLGN3

Title : Altered Amygdala Excitation and CB1 Receptor Modulation of Aggressive Behavior in the Neuroligin-3(R451C) Mouse Model of Autism - Hosie_2018_Front.Cell.Neurosci_12_234
Author(s) : Hosie S , Malone DT , Liu S , Glass M , Adlard PA , Hannan AJ , Hill-Yardin EL
Ref : Front Cell Neurosci , 12 :234 , 2018
PubMedID: 30123111
Gene_locus related to this paper: mouse-3neur

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_2018_Eur.J.Neurosci_47_701
Author(s) : Martella G , Meringolo M , Trobiani L , De Jaco A , Pisani A , Bonsi P
Ref : European Journal of Neuroscience , 47 :701 , 2018
PubMedID: 28921757
Gene_locus related to this paper: mouse-3neur , human-NLGN3

Title : Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing - Redin_2014_J.Med.Genet_51_724
Author(s) : Redin C , Gerard B , Lauer J , Herenger Y , Muller J , Quartier A , Masurel-Paulet A , Willems M , Lesca G , El-Chehadeh S , Le Gras S , Vicaire S , Philipps M , Dumas M , Geoffroy V , Feger C , Haumesser N , Alembik Y , Barth M , Bonneau D , Colin E , Dollfus H , Doray B , Delrue MA , Drouin-Garraud V , Flori E , Fradin M , Francannet C , Goldenberg A , Lumbroso S , Mathieu-Dramard M , Martin-Coignard D , Lacombe D , Morin G , Polge A , Sukno S , Thauvin-Robinet C , Thevenon J , Doco-Fenzy M , Genevieve D , Sarda P , Edery P , Isidor B , Jost B , Olivier-Faivre L , Mandel JL , Piton A
Ref : Journal of Medical Genetics , 51 :724 , 2014
PubMedID: 25167861
Gene_locus related to this paper: human-NLGN3

Title : Autism-linked neuroligin-3 R451C mutation differentially alters hippocampal and cortical synaptic function - Etherton_2011_Proc.Natl.Acad.Sci.U.S.A_108_13764
Author(s) : 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
PubMedID: 21808020
Gene_locus related to this paper: human-NLGN3

Title : Neuroscience. Autism's cause may reside in abnormalities at the synapse -
Author(s) : Garber K
Ref : Science , 317 :190 , 2007
PubMedID: 17626859
Gene_locus related to this paper: human-NLGN3 , human-NLGN4X

Title : Synaptic arrangement of the neuroligin\/beta-neurexin complex revealed by X-ray and neutron scattering - Comoletti_2007_Structure_15_693
Author(s) : Comoletti D , Grishaev A , Whitten AE , Tsigelny I , Taylor P , Trewhella J
Ref : Structure , 15 :693 , 2007
PubMedID: 17562316
Gene_locus related to this paper: human-NLGN3 , human-NLGN4X

Title : A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice - Tabuchi_2007_Science_318_71
Author(s) : Tabuchi K , Blundell J , Etherton MR , Hammer RE , Liu X , Powell CM , Sudhof TC
Ref : Science , 318 :71 , 2007
PubMedID: 17823315
Gene_locus related to this paper: human-NLGN3 , human-NLGN4X

Title : Neurexin-neuroligin signaling in synapse development - Craig_2007_Curr.Opin.Neurobiol_17_43
Author(s) : Craig AM , Kang Y
Ref : Current Opinion in Neurobiology , 17 :43 , 2007
PubMedID: 17275284
Gene_locus related to this paper: human-NLGN3 , human-NLGN4X

Title : Medicine. Testing hypotheses about autism -
Author(s) : Crawley JN
Ref : Science , 318 :56 , 2007
PubMedID: 17916718
Gene_locus related to this paper: human-NLGN3 , human-NLGN4X

Title : Neurexin Ibeta and neuroligin are localized on opposite membranes in mature central synapses - Berninghausen_2007_J.Neurochem_103_1855
Author(s) : Berninghausen O , Rahman MA , Silva JP , Davletov B , Hopkins C , Ushkaryov YA
Ref : Journal of Neurochemistry , 103 :1855 , 2007
PubMedID: 17868325
Gene_locus related to this paper: human-NLGN3 , human-NLGN4X

Title : Neuroligin-3 is a neuronal adhesion protein at GABAergic and glutamatergic synapses - Budreck_2007_Eur.J.Neurosci_26_1738
Author(s) : Budreck EC , Scheiffele P
Ref : European Journal of Neuroscience , 26 :1738 , 2007
PubMedID: 17897391
Gene_locus related to this paper: human-NLGN3 , human-NLGN4X

Title : Adhesion molecules in the nervous system: structural insights into function and diversity - Shapiro_2007_Annu.Rev.Neurosci_30_451
Author(s) : Shapiro L , Love J , Colman DR
Ref : Annual Review of Neuroscience , 30 :451 , 2007
PubMedID: 17600523
Gene_locus related to this paper: human-NLGN3 , human-NLGN4X

Title : Neuroligins 3 and 4X interact with syntrophin-gamma2, and the interactions are affected by autism-related mutations - Yamakawa_2007_Biochem.Biophys.Res.Commun_355_41
Author(s) : Yamakawa H , Oyama S , Mitsuhashi H , Sasagawa N , Uchino S , Kohsaka S , Ishiura S
Ref : Biochemical & Biophysical Research Communications , 355 :41 , 2007
PubMedID: 17292328
Gene_locus related to this paper: human-NLGN3 , human-NLGN4X

Title : Analysis of four neuroligin genes as candidates for autism - Ylisaukko-oja_2005_Eur.J.Hum.Genet_13_1285
Author(s) : Ylisaukko-oja T , Rehnstrom K , Auranen M , Vanhala R , Alen R , Kempas E , Ellonen P , Turunen JA , Makkonen I , Riikonen R , Nieminen-von Wendt T , von Wendt L , Peltonen L , Jarvela I
Ref : Eur J Hum Genet , 13 :1285 , 2005
PubMedID: 16077734
Gene_locus related to this paper: human-NLGN4Y , human-NLGN1 , human-NLGN3 , human-NLGN4X

Title : NLGN3\/NLGN4 gene mutations are not responsible for autism in the Quebec population - Gauthier_2005_Am.J.Med.Genet.B.Neuropsychiatr.Genet_132B_74
Author(s) : Gauthier J , Bonnel A , St-Onge J , Karemera L , Laurent S , Mottron L , Fombonne E , Joober R , Rouleau GA
Ref : American Journal of Medicine Genet B Neuropsychiatr Genet , 132B :74 , 2005
PubMedID: 15389766
Gene_locus related to this paper: human-NLGN4X

Title : Do known mutations in neuroligin genes (NLGN3 and NLGN4) cause autism? -
Author(s) : Talebizadeh Z , Bittel DC , Veatch OJ , Butler MG , Takahashi TN , Miles JH
Ref : J Autism Dev Disord , 34 :735 , 2004
PubMedID: 15679194

Title : Mutation screening of X-chromosomal neuroligin genes: no mutations in 196 autism probands - Vincent_2004_Am.J.Med.Genet.B.Neuropsychiatr.Genet_129B_82
Author(s) : Vincent JB , Kolozsvari D , Roberts WS , Bolton PF , Gurling HM , Scherer SW
Ref : American Journal of Medicine Genet B Neuropsychiatr Genet , 129B :82 , 2004
PubMedID: 15274046

Title : Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism - Jamain_2003_Nat.Genet_34_27
Author(s) : Jamain S , Quach H , Betancur C , Rastam M , Colineaux C , Gillberg IC , Soderstrom H , Giros B , Leboyer M , Gillberg C , Bourgeron T
Ref : Nat Genet , 34 :27 , 2003
PubMedID: 12669065
Gene_locus related to this paper: human-NLGN2 , human-NLGN4X , human-NLGN4Y , mouse-4neur , human-NLGN3