| http://purl.uniprot.org/citations/30201312 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/30201312 | http://www.w3.org/2000/01/rdf-schema#comment | "An increasing number of rare mutations linked to autism spectrum disorders have been reported in genes encoding for proteins involved in synapse formation and maintenance, such as the post-synaptic cell adhesion proteins neuroligins. Most of the autism-linked mutations in the neuroligin genes map on the extracellular protein domain. The autism-linked substitution R451C in Neuroligin3 (NLGN3) induces a local misfolding of the extracellular domain, causing defective trafficking and retention of the mutant protein in the endoplasmic reticulum (ER). The activation of the unfolded protein response (UPR), due to misfolded proteins accumulating in the ER, has been implicated in pathological and physiological conditions of the nervous system. It was previously shown that the over-expression of R451C NLGN3 in a cellular system leads to the activation of the UPR. Here, we have investigated whether this protective cellular response is detectable in the knock-in mouse model of autism endogenously expressing R451C NLGN3. Our data showed up-regulation of UPR markers uniquely in the cerebellum of the R451C mice compared to WT littermates, at both embryonic and adult stages, but not in other brain regions. Miniature excitatory currents in the Purkinje cells of the R451C mice showed higher frequency than in the WT, which was rescued inhibiting the PERK branch of UPR. Taken together, our data indicate that the R451C mutation in neuroligin3 elicits UPR in vivo, which appears to trigger alterations of synaptic function in the cerebellum of a mouse model expressing the R451C autism-linked mutation."xsd:string |
| http://purl.uniprot.org/citations/30201312 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.nbd.2018.08.026"xsd:string |
| http://purl.uniprot.org/citations/30201312 | http://purl.uniprot.org/core/author | "Comoletti D."xsd:string |
| http://purl.uniprot.org/citations/30201312 | http://purl.uniprot.org/core/author | "Miranda E."xsd:string |
| http://purl.uniprot.org/citations/30201312 | http://purl.uniprot.org/core/author | "Canterini S."xsd:string |
| http://purl.uniprot.org/citations/30201312 | http://purl.uniprot.org/core/author | "De Jaco A."xsd:string |
| http://purl.uniprot.org/citations/30201312 | http://purl.uniprot.org/core/author | "De Stefano M.E."xsd:string |
| http://purl.uniprot.org/citations/30201312 | http://purl.uniprot.org/core/author | "Limatola C."xsd:string |
| http://purl.uniprot.org/citations/30201312 | http://purl.uniprot.org/core/author | "Cariello M."xsd:string |
| http://purl.uniprot.org/citations/30201312 | http://purl.uniprot.org/core/author | "Favaloro F.L."xsd:string |
| http://purl.uniprot.org/citations/30201312 | http://purl.uniprot.org/core/author | "Di Castro M.A."xsd:string |
| http://purl.uniprot.org/citations/30201312 | http://purl.uniprot.org/core/author | "Trobiani L."xsd:string |
| http://purl.uniprot.org/citations/30201312 | http://purl.uniprot.org/core/author | "Di Mattia M."xsd:string |
| http://purl.uniprot.org/citations/30201312 | http://purl.uniprot.org/core/date | "2018"xsd:gYear |
| http://purl.uniprot.org/citations/30201312 | http://purl.uniprot.org/core/name | "Neurobiol Dis"xsd:string |
| http://purl.uniprot.org/citations/30201312 | http://purl.uniprot.org/core/pages | "139-150"xsd:string |
| http://purl.uniprot.org/citations/30201312 | http://purl.uniprot.org/core/title | "UPR activation specifically modulates glutamate neurotransmission in the cerebellum of a mouse model of autism."xsd:string |
| http://purl.uniprot.org/citations/30201312 | http://purl.uniprot.org/core/volume | "120"xsd:string |
| http://purl.uniprot.org/citations/30201312 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/30201312 |
| http://purl.uniprot.org/citations/30201312 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/30201312 |
| http://purl.uniprot.org/uniprot/#_A0A0A6YXF5-mappedCitation-30201312 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/30201312 |
| http://purl.uniprot.org/uniprot/#_A0A1B0GRU0-mappedCitation-30201312 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/30201312 |
| http://purl.uniprot.org/uniprot/#_A0A338P713-mappedCitation-30201312 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/30201312 |
| http://purl.uniprot.org/uniprot/#_A0A338P746-mappedCitation-30201312 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/30201312 |