Gene Locus : human-NLGN3
Mode of mutation : Natural mutant
Disease : Neuroligin 3 Autism AUTSX1 Asperger syndrome ASPGX1
Summary : Natural mutation Mutation found in mother and 2 sibs, one with autism and the other with Asperger syndrom Jamain_2003_Nat.Genet_34_27 || Natural mutation Defect in protein processing De Jaco_2005_Chem.Biol.Interact_157-158_371 || Natural mutation Defect in protein processing De Jaco_2006_J.Biol.Chem_281_9667 || Natural mutation Defect in protein processing Comoletti_2004_J.Neurosci_24_4889
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : 368
Kinetic Parameter : No kinetic parameter
News : DECEMBER-12-2007
Comment :
| 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 |
| Abstract : |
| PubMedSearch : Diamanti_2024_Traffic_25_e12930 |
| 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 |
| Abstract : |
| PubMedSearch : Li_2024_Psychopharmacology.(Berl)__ |
| PubMedID: 38170320 |
| Gene_locus related to this paper: human-NLGN3 , mouse-3neur |
| Title : Faster Gastrointestinal Transit, Reduced Small Intestinal Smooth Muscle Tone and Dysmotility in the Nlgn3(R451C) Mouse Model of Autism - Hosie_2024_Int.J.Mol.Sci_25_ |
| 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 |
| Abstract : |
| PubMedSearch : Hosie_2024_Int.J.Mol.Sci_25_ |
| PubMedID: 38255906 |
| Gene_locus related to this paper: mouse-3neur |
| Title : Analyses of the autism-associated neuroligin-3 R451C mutation in human neurons reveal a gain-of-function synaptic mechanism - Wang_2022_Mol.Psychiatry__ |
| Author(s) : Wang L , Mirabella VR , Dai R , Su X , Xu R , Jadali A , Bernabucci M , Singh I , Chen Y , Tian J , Jiang P , Kwan KY , Pak C , Liu C , Comoletti D , Hart RP , Chen C , Sudhof TC , Pang ZP |
| Ref : Mol Psychiatry , : , 2022 |
| Abstract : |
| PubMedSearch : Wang_2022_Mol.Psychiatry__ |
| PubMedID: 36280753 |
| 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 |
| Abstract : |
| PubMedSearch : Lai_2021_Front.Neural.Circuits_15_676891 |
| PubMedID: 34262438 |
| Gene_locus related to this paper: human-NLGN3 |
| Title : Gastrointestinal dysfunction in patients and mice expressing the autism-associated R451C mutation in neuroligin-3 - Hosie_2019_Autism.Res_12_1043 |
| Author(s) : Hosie S , Ellis M , Swaminathan M , Ramalhosa F , Seger GO , Balasuriya GK , Gillberg C , Rastam M , Churilov L , McKeown SJ , Yalcinkaya N , Urvil P , Savidge T , Bell CA , Bodin O , Wood J , Franks AE , Bornstein JC , Hill-Yardin EL |
| Ref : Autism Res , 12 :1043 , 2019 |
| Abstract : |
| PubMedSearch : Hosie_2019_Autism.Res_12_1043 |
| PubMedID: 31119867 |
| Gene_locus related to this paper: mouse-3neur , human-NLGN3 |
| 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 |
| Abstract : |
| PubMedSearch : Martella_2018_Eur.J.Neurosci_47_701 |
| PubMedID: 28921757 |
| Gene_locus related to this paper: mouse-3neur , 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 |
| Abstract : |
| PubMedSearch : Hosie_2018_Front.Cell.Neurosci_12_234 |
| PubMedID: 30123111 |
| Gene_locus related to this paper: mouse-3neur |
| Title : Autism-associated R451C mutation in neuroligin3 leads to activation of the unfolded protein response in a PC12 Tet-On inducible system - Ulbrich_2016_Biochem.J_473_423 |
| Author(s) : Ulbrich L , Favaloro FL , Trobiani L , Marchetti V , Patel V , Pascucci T , Comoletti D , Marciniak SJ , De Jaco A |
| Ref : Biochemical Journal , 473 :423 , 2016 |
| Abstract : |
| PubMedSearch : Ulbrich_2016_Biochem.J_473_423 |
| PubMedID: 26621873 |
| 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 |
| Abstract : |
| PubMedSearch : Etherton_2011_Proc.Natl.Acad.Sci.U.S.A_108_13764 |
| PubMedID: 21808020 |
| Gene_locus related to this paper: human-NLGN3 |
| 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 |
| Abstract : |
| PubMedSearch : Tabuchi_2007_Science_318_71 |
| PubMedID: 17823315 |
| Gene_locus related to this paper: human-NLGN3 , human-NLGN4X |
| Title : A mutation linked with autism reveals a common mechanism of endoplasmic reticulum retention for the alpha,beta-hydrolase fold protein family - De Jaco_2006_J.Biol.Chem_281_9667 |
| Author(s) : De Jaco A , Comoletti D , Kovarik Z , Gaietta G , Radic Z , Lockridge O , Ellisman MH , Taylor P |
| Ref : Journal of Biological Chemistry , 281 :9667 , 2006 |
| Abstract : |
| PubMedSearch : De Jaco_2006_J.Biol.Chem_281_9667 |
| PubMedID: 16434405 |
| Title : A single mutation near the C-terminus in alpha\/beta hydrolase fold protein family causes a defect in protein processing - De Jaco_2005_Chem.Biol.Interact_157-158_371 |
| Author(s) : De Jaco A , Kovarik Z , Comoletti D , Jennings LL , Gaietta G , Ellisman MH , Taylor P |
| Ref : Chemico-Biological Interactions , 157-158 :371 , 2005 |
| Abstract : |
| PubMedSearch : De Jaco_2005_Chem.Biol.Interact_157-158_371 |
| PubMedID: 16429495 |
| Title : The Arg451Cys-neuroligin-3 mutation associated with autism reveals a defect in protein processing - Comoletti_2004_J.Neurosci_24_4889 |
| Author(s) : Comoletti D , De Jaco A , Jennings LL , Flynn RE , Gaietta G , Tsigelny I , Ellisman MH , Taylor P |
| Ref : Journal of Neuroscience , 24 :4889 , 2004 |
| Abstract : |
| PubMedSearch : Comoletti_2004_J.Neurosci_24_4889 |
| PubMedID: 15152050 |
| 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 |
| Abstract : |
| PubMedSearch : Jamain_2003_Nat.Genet_34_27 |
| PubMedID: 12669065 |
| Gene_locus related to this paper: human-NLGN2 , human-NLGN4X , human-NLGN4Y , mouse-4neur , human-NLGN3 |