http://purl.uniprot.org/citations/18626010 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/18626010 | http://www.w3.org/2000/01/rdf-schema#comment | "Regulated intramembrane proteolysis by gamma-secretase cleaves proteins in their transmembrane domain and is involved in important signaling pathways. At least four different gamma-secretase complexes have been identified, but little is known about their biological role and specificity. Previous work has demonstrated the involvement of the Aph1A-gamma-secretase complex in Notch signaling, but no specific function could be assigned to Aph1B/C-gamma-secretase. We demonstrate here that the Aph1B/C-gamma-secretase complex is expressed in brain areas relevant to schizophrenia pathogenesis and that Aph1B/C deficiency causes pharmacological and behavioral abnormalities that can be reversed by antipsychotic drugs. At the molecular level we find accumulation of Nrg1 fragments in the brain of Aph1BC(-/-) mice. Our observations gain clinical relevance by the demonstration that a Val-to-Leu mutation in the Nrg1 transmembrane domain, associated with increased risk for schizophrenia, affects gamma-secretase cleavage of Nrg1. This finding suggests that dysregulation of intramembrane proteolysis of Nrg1 could increase risk for schizophrenia and related disorders."xsd:string |
http://purl.uniprot.org/citations/18626010 | http://purl.org/dc/terms/identifier | "doi:10.1073/pnas.0800507105"xsd:string |
http://purl.uniprot.org/citations/18626010 | http://purl.uniprot.org/core/author | "De Strooper B."xsd:string |
http://purl.uniprot.org/citations/18626010 | http://purl.uniprot.org/core/author | "Haass C."xsd:string |
http://purl.uniprot.org/citations/18626010 | http://purl.uniprot.org/core/author | "Willem M."xsd:string |
http://purl.uniprot.org/citations/18626010 | http://purl.uniprot.org/core/author | "Serneels L."xsd:string |
http://purl.uniprot.org/citations/18626010 | http://purl.uniprot.org/core/author | "D'Hooge R."xsd:string |
http://purl.uniprot.org/citations/18626010 | http://purl.uniprot.org/core/author | "Schafer M.K."xsd:string |
http://purl.uniprot.org/citations/18626010 | http://purl.uniprot.org/core/author | "Horre K."xsd:string |
http://purl.uniprot.org/citations/18626010 | http://purl.uniprot.org/core/author | "Dejaegere T."xsd:string |
http://purl.uniprot.org/citations/18626010 | http://purl.uniprot.org/core/author | "Herreman A."xsd:string |
http://purl.uniprot.org/citations/18626010 | http://purl.uniprot.org/core/author | "Depboylu C."xsd:string |
http://purl.uniprot.org/citations/18626010 | http://purl.uniprot.org/core/author | "Alvarez-Fischer D."xsd:string |
http://purl.uniprot.org/citations/18626010 | http://purl.uniprot.org/core/author | "Hoglinger G.U."xsd:string |
http://purl.uniprot.org/citations/18626010 | http://purl.uniprot.org/core/author | "Van Biervliet J."xsd:string |
http://purl.uniprot.org/citations/18626010 | http://purl.uniprot.org/core/date | "2008"xsd:gYear |
http://purl.uniprot.org/citations/18626010 | http://purl.uniprot.org/core/name | "Proc Natl Acad Sci U S A"xsd:string |
http://purl.uniprot.org/citations/18626010 | http://purl.uniprot.org/core/pages | "9775-9780"xsd:string |
http://purl.uniprot.org/citations/18626010 | http://purl.uniprot.org/core/title | "Deficiency of Aph1B/C-gamma-secretase disturbs Nrg1 cleavage and sensorimotor gating that can be reversed with antipsychotic treatment."xsd:string |
http://purl.uniprot.org/citations/18626010 | http://purl.uniprot.org/core/volume | "105"xsd:string |
http://purl.uniprot.org/citations/18626010 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/18626010 |
http://purl.uniprot.org/citations/18626010 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/18626010 |
http://purl.uniprot.org/uniprot/Q8C7N7#attribution-1E398068CEB1893C50BE15024B17FAAD | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/18626010 |
http://purl.uniprot.org/uniprot/Q9DCZ9#attribution-1E398068CEB1893C50BE15024B17FAAD | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/18626010 |