Gene Locus : human-NLGN1
Mode of mutation : Natural
Disease : Neuroligin 1 Alzheimer's disease (AD) Autism
Summary : truncation Tristan-Clavijo_2015_Neurobiol.Aging_36_3171
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : 210
Kinetic Parameter : No kinetic parameter
News : No news
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). Expression of mutant NL1 shows accumulation of truncated NL1 proteins in the endoplasmic reticulum.
| 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 : 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 |