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Mutation Report for: R451C_human-NLGN3

Mode of mutation|Natural mutant
Amino Acid change|R451C
Torpedo number|368
    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: 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: 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: 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: 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: Autism-associated R451C mutation in neuroligin3 leads to activation of the unfolded protein response in a PC12 Tet-On inducible system
    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 : 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: 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


    Title: A mutation linked with autism reveals a common mechanism of endoplasmic reticulum retention for the alpha,beta-hydrolase fold protein family
    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 : PubMed


    Title: A single mutation near the C-terminus in alpha/beta hydrolase fold protein family causes a defect in protein processing
    De Jaco A, Kovarik Z, Comoletti D, Jennings LL, Gaietta G, Ellisman MH, Taylor P
    Ref: Chemico-Biological Interactions, 157-158:371, 2005 : PubMed


    Title: The Arg451Cys-neuroligin-3 mutation associated with autism reveals a defect in protein processing
    Comoletti D, De Jaco A, Jennings LL, Flynn RE, Gaietta G, Tsigelny I, Ellisman MH, Taylor P
    Ref: Journal of Neuroscience, 24:4889, 2004 : PubMed


    Title: Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
    Jamain S, Quach H, Betancur C, Rastam M, Colineaux C, Gillberg IC, Soderstrom H, Giros B, Leboyer M and Bourgeron T <1 more author(s)>
    Ref: Nat Genet, 34:27, 2003 : PubMed


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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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