{"id":"https://openalex.org/W2148079945","doi":"https://doi.org/10.1016/s0197-4580(96)80151-5","title":"149 The Presenilin 1 and 2 mutations linked to familial Alzheimer's Disease increase the extracellular concentration of amyloid 0 protein (A\u03b2) ending at A\u03b242(43)","display_name":"149 The Presenilin 1 and 2 mutations linked to familial Alzheimer's Disease increase the extracellular concentration of amyloid 0 protein (A\u03b2) ending at A\u03b242(43)","publication_year":1996,"publication_date":"1996-01-01","ids":{"openalex":"https://openalex.org/W2148079945","doi":"https://doi.org/10.1016/s0197-4580(96)80151-5","mag":"2148079945"},"language":"en","primary_location":{"id":"doi:10.1016/s0197-4580(96)80151-5","doi":"https://doi.org/10.1016/s0197-4580(96)80151-5","is_oa":false,"landing_page_url":"https://doi.org/10.1016/s0197-4580(96)80151-5","pdf_url":null,"source":{"id":"https://openalex.org/S284573","display_name":"Neurobiology of Aging","issn_l":"0197-4580","issn":["0197-4580","1558-1497"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurobiology of Aging","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5048696382","display_name":"S.G. Younkin","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"S. Younkin","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081084192","display_name":"Donalyn Scheuner","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"D. Scheuner","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057955529","display_name":"X.H. Song","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"X. Song","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109252354","display_name":"Christopher B. Eckman","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"C. Eckman","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004033835","display_name":"Martin Citron","orcid":"https://orcid.org/0000-0001-6893-8204","observed_orcids":["https://orcid.org/0000-0001-6893-8204"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M. Citron","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044331468","display_name":"Nobuhiro Suzuki","orcid":"https://orcid.org/0000-0001-8420-5852","observed_orcids":["https://orcid.org/0000-0001-8420-5852"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"N. Suzuki","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112371406","display_name":"Thomas D. Bird","orcid":"https://orcid.org/0000-0001-9598-3529","observed_orcids":["https://orcid.org/0000-0001-9598-3529"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"T. Bird","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020514779","display_name":"John Hardy","orcid":"https://orcid.org/0000-0002-3122-0423","observed_orcids":["https://orcid.org/0000-0002-3122-0423"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J. Hardy","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033450104","display_name":"M. Hutton","orcid":"https://orcid.org/0000-0002-0553-5851","observed_orcids":["https://orcid.org/0000-0002-0553-5851"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M. Hutton","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018345023","display_name":"Lars Lannfelt","orcid":"https://orcid.org/0000-0001-9839-659X","observed_orcids":["https://orcid.org/0000-0001-9839-659X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"L. Lannfelt","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050696160","display_name":"Ephrat Levy\u2010Lahad","orcid":"https://orcid.org/0000-0002-2637-1921","observed_orcids":["https://orcid.org/0000-0002-2637-1921"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"E. Levy-Lahad","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016305380","display_name":"Elaine R. Peskind","orcid":"https://orcid.org/0000-0002-3667-9129","observed_orcids":["https://orcid.org/0000-0002-3667-9129"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"E. Peskind","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027997420","display_name":"Parvoneh Poorkaj","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"P. Poorkaj","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091305213","display_name":"Gerard D. Schellenberg","orcid":"https://orcid.org/0000-0003-1115-2475","observed_orcids":["https://orcid.org/0000-0003-1115-2475"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"G. Schellenberg","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050004777","display_name":"Rudolph E. Tanzi","orcid":"https://orcid.org/0000-0002-7032-1454","observed_orcids":["https://orcid.org/0000-0002-7032-1454"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"R. Tanzi","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018825962","display_name":"Matti H. Viitanen","orcid":"https://orcid.org/0000-0001-5760-5367","observed_orcids":["https://orcid.org/0000-0001-5760-5367"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M. Viitanen","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030541168","display_name":"Wilma Wasco","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"W. Wasco","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5087935119","display_name":"Dennis J. Selkoe","orcid":"https://orcid.org/0000-0001-8846-9767","observed_orcids":["https://orcid.org/0000-0001-8846-9767"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"D. Selkoe","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3430,"currency":"USD","value_usd":3430},"apc_paid":null,"fwci":0.2502,"has_fulltext":false,"cited_by_count":3,"citation_normalized_percentile":{"value":0.47825198,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"17","issue":"4","first_page":"S38","last_page":"S38"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10086","display_name":"Alzheimer's disease research and treatments","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10086","display_name":"Alzheimer's disease research and treatments","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10009","display_name":"Dementia and Cognitive Impairment Research","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2738","display_name":"Psychiatry and Mental health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11266","display_name":"Neuroinflammation and Neurodegeneration Mechanisms","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2808","display_name":"Neurology"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/presenilin-1","display_name":"presenilin 1","score":0.9829999804496765},{"id":"https://openalex.org/keywords/psen2","display_name":"presenilin 2","score":1.0},{"id":"https://openalex.org/keywords/familial-alzheimer-s-disease","display_name":"familial Alzheimer's disease","score":0.9779999852180481},{"id":"https://openalex.org/keywords/amyloid-beta","display_name":"amyloid-beta","score":0.6359999775886536},{"id":"https://openalex.org/keywords/amyloid-beta-1-42","display_name":"amyloid-beta 42","score":0.824999988079071},{"id":"https://openalex.org/keywords/presenilin-mutations","display_name":"presenilin mutations","score":0.7279999852180481}],"concepts":[{"id":"https://openalex.org/C175344181","wikidata":"https://www.wikidata.org/wiki/Q907198","display_name":"Presenilin","level":4,"score":0.8621733784675598},{"id":"https://openalex.org/C28406088","wikidata":"https://www.wikidata.org/wiki/Q5571762","display_name":"Extracellular","level":2,"score":0.6502147912979126},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.5310044288635254},{"id":"https://openalex.org/C2777633098","wikidata":"https://www.wikidata.org/wiki/Q2736051","display_name":"Amyloid (mycology)","level":2,"score":0.5257792472839355},{"id":"https://openalex.org/C31705614","wikidata":"https://www.wikidata.org/wiki/Q423510","display_name":"Amyloid precursor protein","level":4,"score":0.48220741748809814},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.43583351373672485},{"id":"https://openalex.org/C502032728","wikidata":"https://www.wikidata.org/wiki/Q11081","display_name":"Alzheimer's disease","level":3,"score":0.35628700256347656},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3548126220703125},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.32814478874206543},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.32703834772109985},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.326602965593338},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.27861374616622925},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.21717438101768494},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.20697513222694397},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.13603180646896362}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/s0197-4580(96)80151-5","doi":"https://doi.org/10.1016/s0197-4580(96)80151-5","is_oa":false,"landing_page_url":"https://doi.org/10.1016/s0197-4580(96)80151-5","pdf_url":null,"source":{"id":"https://openalex.org/S284573","display_name":"Neurobiology of Aging","issn_l":"0197-4580","issn":["0197-4580","1558-1497"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurobiology of Aging","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9391000270843506,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W59807620","https://openalex.org/W2101077392","https://openalex.org/W2430781495","https://openalex.org/W2498571771","https://openalex.org/W2005681172","https://openalex.org/W2072871903","https://openalex.org/W42168637","https://openalex.org/W2026353828","https://openalex.org/W3021128057","https://openalex.org/W2289562127"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-11-06T12:05:46.655746","created_date":"2016-06-24T00:00:00"}
