{"id":"https://openalex.org/W2062211063","doi":"https://doi.org/10.1007/s000180050219","title":"Monogenic determinants of familial Alzheimer's disease: presenilin-1 mutations","display_name":"Monogenic determinants of familial Alzheimer's disease: presenilin-1 mutations","publication_year":1998,"publication_date":"1998-09-01","ids":{"openalex":"https://openalex.org/W2062211063","doi":"https://doi.org/10.1007/s000180050219","mag":"2062211063","pmid":"https://pubmed.ncbi.nlm.nih.gov/9791532","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/11147232"},"language":"en","primary_location":{"id":"doi:10.1007/s000180050219","doi":"https://doi.org/10.1007/s000180050219","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s000180050219","pdf_url":null,"source":{"id":"https://openalex.org/S60362788","display_name":"Cellular and Molecular Life Sciences","issn_l":"1420-682X","issn":["1420-682X","1420-9071"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cellular and Molecular Life Sciences CMLS","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11147232","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"D. M. Kovacs","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"D. M. Kovacs","raw_affiliation_strings":["Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Charlestown 02129, USA","Genetics and Aging Unit, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Building 149, 13th St., Charlestown (Massachusetts 02129, USA), Fax +1 617 726 5677,  e-mail: tanzi@helix.mgh.harvard.edu"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Charlestown 02129, USA","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Genetics and Aging Unit, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Building 149, 13th St., Charlestown (Massachusetts 02129, USA), Fax +1 617 726 5677,  e-mail: tanzi@helix.mgh.harvard.edu","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210087915"]}]},{"author_position":"last","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":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"R. E. Tanzi","raw_affiliation_strings":["Genetics and Aging Unit, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Building 149, 13th St., Charlestown (Massachusetts 02129, USA), Fax +1 617 726 5677,  e-mail: tanzi@helix.mgh.harvard.edu, US","Genetics and Aging Unit, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Building 149, 13th St., Charlestown (Massachusetts 02129, USA), Fax +1 617 726 5677,  e-mail: tanzi@helix.mgh.harvard.edu"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetics and Aging Unit, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Building 149, 13th St., Charlestown (Massachusetts 02129, USA), Fax +1 617 726 5677,  e-mail: tanzi@helix.mgh.harvard.edu, US","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Genetics and Aging Unit, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Building 149, 13th St., Charlestown (Massachusetts 02129, USA), Fax +1 617 726 5677,  e-mail: tanzi@helix.mgh.harvard.edu","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210087915"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":4290,"currency":"USD","value_usd":4290},"apc_paid":null,"fwci":2.2463,"has_fulltext":false,"cited_by_count":29,"citation_normalized_percentile":{"value":0.87879046,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"54","issue":"9","first_page":"902","last_page":"909"},"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/2737","display_name":"Physiology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10086","display_name":"Alzheimer's disease research and treatments","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"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/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":0.9710000157356262},{"id":"https://openalex.org/keywords/familial-alzheimer-s-disease","display_name":"familial Alzheimer's disease","score":0.875},{"id":"https://openalex.org/keywords/early-onset-alzheimer-s-disease","display_name":"early-onset Alzheimer's disease","score":0.9179999828338623},{"id":"https://openalex.org/keywords/amyloid-beta-1-42","display_name":"amyloid-beta 42","score":0.7310000061988831},{"id":"https://openalex.org/keywords/notch-signalling-pathway","display_name":"Notch signalling pathway","score":0.8840000033378601},{"id":"https://openalex.org/keywords/neurodegeneration","display_name":"neurodegeneration","score":0.9340000152587891},{"id":"https://openalex.org/keywords/ps1-mutations","display_name":"PS1 mutations","score":0.6230000257492065},{"id":"https://openalex.org/keywords/transgenic-mice","display_name":"transgenic mice","score":0.492000013589859},{"id":"https://openalex.org/keywords/cell-death","display_name":"cell death","score":0.3529999852180481}],"concepts":[{"id":"https://openalex.org/C175344181","wikidata":"https://www.wikidata.org/wiki/Q907198","display_name":"Presenilin","level":4,"score":0.9059493541717529},{"id":"https://openalex.org/C2776925932","wikidata":"https://www.wikidata.org/wiki/Q1755122","display_name":"Neurodegeneration","level":3,"score":0.8849989771842957},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.618330180644989},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5974583625793457},{"id":"https://openalex.org/C102230213","wikidata":"https://www.wikidata.org/wiki/Q430117","display_name":"Transgene","level":3,"score":0.4850553572177887},{"id":"https://openalex.org/C141035611","wikidata":"https://www.wikidata.org/wiki/Q5532934","display_name":"Genetically modified mouse","level":4,"score":0.4533991813659668},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.45108848810195923},{"id":"https://openalex.org/C502032728","wikidata":"https://www.wikidata.org/wiki/Q11081","display_name":"Alzheimer's disease","level":3,"score":0.44101816415786743},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.43312498927116394},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.42370742559432983},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.3976868987083435},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.33200809359550476},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.20294147729873657},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.19757568836212158}],"mesh":[{"descriptor_ui":"D000544","descriptor_name":"Alzheimer Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000544","descriptor_name":"Alzheimer Disease","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001057","descriptor_name":"Apolipoproteins E","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002460","descriptor_name":"Cell Line","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008565","descriptor_name":"Membrane Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008565","descriptor_name":"Membrane Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D008822","descriptor_name":"Mice, Transgenic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009410","descriptor_name":"Nerve Degeneration","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010446","descriptor_name":"Peptide Fragments","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010446","descriptor_name":"Peptide Fragments","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014162","descriptor_name":"Transfection","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015801","descriptor_name":"Helminth Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015870","descriptor_name":"Gene Expression","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016229","descriptor_name":"Amyloid beta-Peptides","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D016229","descriptor_name":"Amyloid beta-Peptides","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D017668","descriptor_name":"Age of Onset","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D029742","descriptor_name":"Caenorhabditis elegans Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D053764","descriptor_name":"Presenilin-1","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1007/s000180050219","doi":"https://doi.org/10.1007/s000180050219","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s000180050219","pdf_url":null,"source":{"id":"https://openalex.org/S60362788","display_name":"Cellular and Molecular Life Sciences","issn_l":"1420-682X","issn":["1420-682X","1420-9071"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cellular and Molecular Life Sciences CMLS","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:11147232","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11147232","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cell Mol Life Sci","raw_type":"Text"},{"id":"pmid:9791532","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9791532","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cellular and molecular life sciences : CMLS","raw_type":"Journal Article"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:11147232","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11147232","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cell Mol Life Sci","raw_type":"Text"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9763000011444092}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":67,"referenced_works":["https://openalex.org/W28105269","https://openalex.org/W244393757","https://openalex.org/W267936353","https://openalex.org/W1582068444","https://openalex.org/W1663198600","https://openalex.org/W1851679826","https://openalex.org/W1952363942","https://openalex.org/W1963923664","https://openalex.org/W1966743862","https://openalex.org/W1967027232","https://openalex.org/W1969810313","https://openalex.org/W1972706019","https://openalex.org/W1975790328","https://openalex.org/W1978566291","https://openalex.org/W1979432217","https://openalex.org/W1979773315","https://openalex.org/W1980906872","https://openalex.org/W1981845572","https://openalex.org/W1987101576","https://openalex.org/W1991142832","https://openalex.org/W1996599959","https://openalex.org/W1997074474","https://openalex.org/W1999631936","https://openalex.org/W2001391027","https://openalex.org/W2003302709","https://openalex.org/W2009187638","https://openalex.org/W2025779969","https://openalex.org/W2029205666","https://openalex.org/W2035176443","https://openalex.org/W2038681771","https://openalex.org/W2041148032","https://openalex.org/W2043415277","https://openalex.org/W2043817111","https://openalex.org/W2045153164","https://openalex.org/W2046766517","https://openalex.org/W2053156705","https://openalex.org/W2054499580","https://openalex.org/W2058876174","https://openalex.org/W2060579161","https://openalex.org/W2062876006","https://openalex.org/W2067521893","https://openalex.org/W2068137765","https://openalex.org/W2070068402","https://openalex.org/W2070654470","https://openalex.org/W2071629463","https://openalex.org/W2071677771","https://openalex.org/W2075175573","https://openalex.org/W2077674018","https://openalex.org/W2079438371","https://openalex.org/W2081998222","https://openalex.org/W2082040667","https://openalex.org/W2082669967","https://openalex.org/W2082795767","https://openalex.org/W2083594148","https://openalex.org/W2083633251","https://openalex.org/W2086523105","https://openalex.org/W2088152552","https://openalex.org/W2088519917","https://openalex.org/W2090043240","https://openalex.org/W2095745901","https://openalex.org/W2098546816","https://openalex.org/W2108320273","https://openalex.org/W2122391469","https://openalex.org/W2126800086","https://openalex.org/W2139930052","https://openalex.org/W2156292819","https://openalex.org/W2157944371"],"related_works":["https://openalex.org/W1779594890","https://openalex.org/W2571803537","https://openalex.org/W2127601584","https://openalex.org/W58149416","https://openalex.org/W2071750867","https://openalex.org/W2086523105","https://openalex.org/W1989630577","https://openalex.org/W2088858515","https://openalex.org/W2025911651","https://openalex.org/W2133132878"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2014,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}