Alternative name(s) : Autism, susceptibility to, 20\; AUTS20
Gene_locus : human-NLGN1
Mutation : 5 mutations T271fs_human-NLGN1 P89L_human-NLGN1 L269P_human-NLGN1 T90I_human-NLGN1 G297E_human-NLGN1
Comment
a frameshift mutation, c.875_876insTT, in the neuroligin 1 gene (NLGN1) in a patient with AD and familial history of AD. The insertion generates a premature stop codon in the extracellular domain of NL1 (p.Thr271fs). Also Rare variant in autism. A pair of siblings affected with a non-syndromic autism| Title : A Neuroligin-1 mutation associated with Alzheimer's disease produces memory and age-dependent impairments in hippocampal plasticity - Arias-Aragon_2023_iScience_26_106868 |
| Author(s) : Arias-Aragon F , Tristan-Clavijo E , Martinez-Gallego I , Robles-Lanuza E , Coatl-Cuaya H , Martin-Cuevas C , Sanchez-Hidalgo AC , Rodriguez-Moreno A , Martinez-Mir A , Scholl FG |
| Ref : iScience , 26 :106868 , 2023 |
| Abstract : Arias-Aragon_2023_iScience_26_106868 |
| ESTHER : Arias-Aragon_2023_iScience_26_106868 |
| PubMedSearch : Arias-Aragon_2023_iScience_26_106868 |
| PubMedID: 37260747 |
| Gene_locus related to this paper: human-NLGN1 |
| Title : Functional significance of rare neuroligin 1 variants found in autism - Nakanishi_2017_PLoS.Genet_13_e1006940 |
| Author(s) : Nakanishi M , Nomura J , Ji X , Tamada K , Arai T , Takahashi E , Bucan M , Takumi T |
| Ref : PLoS Genet , 13 :e1006940 , 2017 |
| Abstract : Nakanishi_2017_PLoS.Genet_13_e1006940 |
| ESTHER : Nakanishi_2017_PLoS.Genet_13_e1006940 |
| PubMedSearch : Nakanishi_2017_PLoS.Genet_13_e1006940 |
| PubMedID: 28841651 |
| Gene_locus related to this paper: human-NLGN1 |
| Title : A truncating mutation in Alzheimer's disease inactivates neuroligin-1 synaptic function - Tristan-Clavijo_2015_Neurobiol.Aging_36_3171 |
| Author(s) : Tristan-Clavijo E , Camacho-Garcia RJ , Robles-Lanuza E , Ruiz A , van der Zee J , Van Broeckhoven C , Hernandez I , Martinez-Mir A , Scholl FG |
| Ref : Neurobiology of Aging , 36 :3171 , 2015 |
| Abstract : Tristan-Clavijo_2015_Neurobiol.Aging_36_3171 |
| ESTHER : Tristan-Clavijo_2015_Neurobiol.Aging_36_3171 |
| PubMedSearch : Tristan-Clavijo_2015_Neurobiol.Aging_36_3171 |
| PubMedID: 26440732 |