{"id":"https://openalex.org/W2980711048","doi":"https://doi.org/10.1093/braincomms/fcz024","title":"Amyloid precursor protein processing in human neurons with an allelic series of the PSEN1 intron 4 deletion mutation and total presenilin-1 knockout","display_name":"Amyloid precursor protein processing in human neurons with an allelic series of the PSEN1 intron 4 deletion mutation and total presenilin-1 knockout","publication_year":2019,"publication_date":"2019-01-01","ids":{"openalex":"https://openalex.org/W2980711048","doi":"https://doi.org/10.1093/braincomms/fcz024","mag":"2980711048","pmid":"https://pubmed.ncbi.nlm.nih.gov/32395715","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/7212081"},"language":"en","primary_location":{"id":"doi:10.1093/braincomms/fcz024","doi":"https://doi.org/10.1093/braincomms/fcz024","is_oa":true,"landing_page_url":"https://doi.org/10.1093/braincomms/fcz024","pdf_url":"https://academic.oup.com/braincomms/article-pdf/1/1/fcz024/33639459/fcz024.pdf","source":{"id":"https://openalex.org/S4210235363","display_name":"Brain Communications","issn_l":"2632-1297","issn":["2632-1297"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-d","doyens","jufo-1","ki-jl-1","norway-1","oarl","poland-20","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Brain Communications","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://academic.oup.com/braincomms/article-pdf/1/1/fcz024/33639459/fcz024.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5055552839","display_name":"Charles Arber","orcid":"https://orcid.org/0000-0002-9743-8134","observed_orcids":["https://orcid.org/0000-0002-9743-8134"]},"institutions":[{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Charles Arber","raw_affiliation_strings":["Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London WC1N 1PJ, UK"],"raw_orcid":"https://orcid.org/0000-0002-9743-8134","affiliations":[{"raw_affiliation_string":"Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London WC1N 1PJ, UK","institution_ids":["https://openalex.org/I4405260083","https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027361265","display_name":"Claudio Villegas-Llerena","orcid":"https://orcid.org/0000-0002-2634-5504","observed_orcids":["https://orcid.org/0000-0002-2634-5504"]},"institutions":[{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Claudio Villegas-Llerena","raw_affiliation_strings":["Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London WC1N 1PJ, UK","Department of Neuroinflammation, UCL Queen Square Institute of Neurology, London WC1N 1PJ, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London WC1N 1PJ, UK","institution_ids":["https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"raw_affiliation_string":"Department of Neuroinflammation, UCL Queen Square Institute of Neurology, London WC1N 1PJ, UK","institution_ids":["https://openalex.org/I4405260083","https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038017738","display_name":"Jamie Toombs","orcid":"https://orcid.org/0000-0002-0062-0264","observed_orcids":["https://orcid.org/0000-0002-0062-0264"]},"institutions":[{"id":"https://openalex.org/I4210126463","display_name":"UK Dementia Research Institute","ror":"https://ror.org/02wedp412","country_code":"GB","type":"facility","lineage":["https://openalex.org/I4210126463"]},{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Jamie Toombs","raw_affiliation_strings":["Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London WC1N 1PJ, UK","UK Dementia Research Institute at UCL, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London WC1N 1PJ, UK","institution_ids":["https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"raw_affiliation_string":"UK Dementia Research Institute at UCL, London, UK","institution_ids":["https://openalex.org/I4210126463","https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068969195","display_name":"Jennifer M. Pocock","orcid":"https://orcid.org/0000-0001-5812-9331","observed_orcids":["https://orcid.org/0000-0001-5812-9331"]},"institutions":[{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Jennifer M Pocock","raw_affiliation_strings":["Department of Neuroinflammation, UCL Queen Square Institute of Neurology, London WC1N 1PJ, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neuroinflammation, UCL Queen Square Institute of Neurology, London WC1N 1PJ, UK","institution_ids":["https://openalex.org/I4405260083","https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086893120","display_name":"Natalie Sarah Ryan","orcid":"https://orcid.org/0000-0003-0361-7455","observed_orcids":["https://orcid.org/0000-0003-0361-7455"]},"institutions":[{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Natalie S Ryan","raw_affiliation_strings":["Department of Neurodegenerative Disease, Dementia Research Centre, UCL Queen Square Institute of Neurology, London WC1N 1PJ, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurodegenerative Disease, Dementia Research Centre, UCL Queen Square Institute of Neurology, London WC1N 1PJ, UK","institution_ids":["https://openalex.org/I4405260083","https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018836358","display_name":"Nick C. Fox","orcid":"https://orcid.org/0000-0002-6660-657X","observed_orcids":["https://orcid.org/0000-0002-6660-657X"]},"institutions":[{"id":"https://openalex.org/I4210126463","display_name":"UK Dementia Research Institute","ror":"https://ror.org/02wedp412","country_code":"GB","type":"facility","lineage":["https://openalex.org/I4210126463"]},{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Nick C Fox","raw_affiliation_strings":["Department of Neurodegenerative Disease, Dementia Research Centre, UCL Queen Square Institute of Neurology, London WC1N 1PJ, UK","Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London WC1N 1PJ, UK","UK Dementia Research Institute at UCL, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurodegenerative Disease, Dementia Research Centre, UCL Queen Square Institute of Neurology, London WC1N 1PJ, UK","institution_ids":["https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"raw_affiliation_string":"Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London WC1N 1PJ, UK","institution_ids":["https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"raw_affiliation_string":"UK Dementia Research Institute at UCL, London, UK","institution_ids":["https://openalex.org/I4210126463","https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079766290","display_name":"Henrik Zetterberg","orcid":"https://orcid.org/0000-0003-3930-4354","observed_orcids":["https://orcid.org/0000-0003-3930-4354","https://orcid.org/0000-0002-4671-6763"]},"institutions":[{"id":"https://openalex.org/I2801112325","display_name":"Sahlgrenska University Hospital","ror":"https://ror.org/04vgqjj36","country_code":"SE","type":"healthcare","lineage":["https://openalex.org/I2801112325"]},{"id":"https://openalex.org/I4210126463","display_name":"UK Dementia Research Institute","ror":"https://ror.org/02wedp412","country_code":"GB","type":"facility","lineage":["https://openalex.org/I4210126463"]},{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]},{"id":"https://openalex.org/I881427289","display_name":"University of Gothenburg","ror":"https://ror.org/01tm6cn81","country_code":"SE","type":"education","lineage":["https://openalex.org/I881427289"]}],"countries":["GB","SE"],"is_corresponding":false,"raw_author_name":"Henrik Zetterberg","raw_affiliation_strings":["Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, M\u00f6lndal, Sweden","Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London WC1N 1PJ, UK","Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, The Sahlgrenska Academy, University of Gothenburg, M\u00f6lndal, Sweden","UK Dementia Research Institute at UCL, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, M\u00f6lndal, Sweden","institution_ids":["https://openalex.org/I2801112325"]},{"raw_affiliation_string":"Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London WC1N 1PJ, UK","institution_ids":["https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"raw_affiliation_string":"Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, The Sahlgrenska Academy, University of Gothenburg, M\u00f6lndal, Sweden","institution_ids":["https://openalex.org/I881427289"]},{"raw_affiliation_string":"UK Dementia Research Institute at UCL, London, UK","institution_ids":["https://openalex.org/I4210126463","https://openalex.org/I45129253"]}]},{"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":[{"id":"https://openalex.org/I4210126463","display_name":"UK Dementia Research Institute","ror":"https://ror.org/02wedp412","country_code":"GB","type":"facility","lineage":["https://openalex.org/I4210126463"]},{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"John Hardy","raw_affiliation_strings":["Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London WC1N 1PJ, UK","UK Dementia Research Institute at UCL, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London WC1N 1PJ, UK","institution_ids":["https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"raw_affiliation_string":"UK Dementia Research Institute at UCL, London, UK","institution_ids":["https://openalex.org/I4210126463","https://openalex.org/I45129253"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5050181909","display_name":"Selina Wray","orcid":"https://orcid.org/0000-0003-3062-7050","observed_orcids":["https://orcid.org/0000-0003-3062-7050"]},"institutions":[{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"Selina Wray","raw_affiliation_strings":["Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London WC1N 1PJ, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London WC1N 1PJ, UK","institution_ids":["https://openalex.org/I4405260083","https://openalex.org/I45129253"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5050181909"],"corresponding_institution_ids":["https://openalex.org/I4405260083","https://openalex.org/I45129253"],"apc_list":{"value":3051,"currency":"GBP","value_usd":4024},"apc_paid":{"value":3051,"currency":"GBP","value_usd":4024},"fwci":0.9128,"has_fulltext":true,"cited_by_count":20,"citation_normalized_percentile":{"value":0.69054371,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":93,"max":98},"biblio":{"volume":"1","issue":"1","first_page":"fcz024","last_page":"fcz024"},"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":0.9589999914169312},{"id":"https://openalex.org/keywords/gamma-secretase","display_name":"gamma-secretase","score":0.8169999718666077},{"id":"https://openalex.org/keywords/app-processing","display_name":"APP processing","score":0.9850000143051147},{"id":"https://openalex.org/keywords/familial-alzheimer-s-disease","display_name":"familial Alzheimer's disease","score":0.925000011920929},{"id":"https://openalex.org/keywords/amyloid-beta","display_name":"amyloid-beta","score":0.7409999966621399},{"id":"https://openalex.org/keywords/nicastrin","display_name":"nicastrin","score":0.8889999985694885},{"id":"https://openalex.org/keywords/gene-dosage","display_name":"gene dosage","score":0.6050000190734863}],"concepts":[{"id":"https://openalex.org/C175344181","wikidata":"https://www.wikidata.org/wiki/Q907198","display_name":"Presenilin","level":4,"score":0.9521474242210388},{"id":"https://openalex.org/C31705614","wikidata":"https://www.wikidata.org/wiki/Q423510","display_name":"Amyloid precursor protein","level":4,"score":0.7022017240524292},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6260803937911987},{"id":"https://openalex.org/C2776485563","wikidata":"https://www.wikidata.org/wiki/Q18253272","display_name":"PSEN1","level":5,"score":0.6226919293403625},{"id":"https://openalex.org/C107459253","wikidata":"https://www.wikidata.org/wiki/Q674925","display_name":"Induced pluripotent stem cell","level":4,"score":0.5878201723098755},{"id":"https://openalex.org/C2779658117","wikidata":"https://www.wikidata.org/wiki/Q7024546","display_name":"Nicastrin","level":5,"score":0.5861393213272095},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5093086957931519},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.4857195019721985},{"id":"https://openalex.org/C182704531","wikidata":"https://www.wikidata.org/wiki/Q1364740","display_name":"Knockout mouse","level":3,"score":0.46937063336372375},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.42813020944595337},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4161593019962311},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.35862964391708374},{"id":"https://openalex.org/C502032728","wikidata":"https://www.wikidata.org/wiki/Q11081","display_name":"Alzheimer's disease","level":3,"score":0.2739650011062622},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.205272376537323},{"id":"https://openalex.org/C145103041","wikidata":"https://www.wikidata.org/wiki/Q1151519","display_name":"Embryonic stem cell","level":3,"score":0.11153891682624817},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.08572489023208618},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.06932377815246582},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.0}],"mesh":[],"locations_count":4,"locations":[{"id":"doi:10.1093/braincomms/fcz024","doi":"https://doi.org/10.1093/braincomms/fcz024","is_oa":true,"landing_page_url":"https://doi.org/10.1093/braincomms/fcz024","pdf_url":"https://academic.oup.com/braincomms/article-pdf/1/1/fcz024/33639459/fcz024.pdf","source":{"id":"https://openalex.org/S4210235363","display_name":"Brain Communications","issn_l":"2632-1297","issn":["2632-1297"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-d","doyens","jufo-1","ki-jl-1","norway-1","oarl","poland-20","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Brain Communications","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:7212081","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/7212081","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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Brain Commun","raw_type":"Text"},{"id":"pmid:32395715","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/32395715","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":"Brain communications","raw_type":"Journal Article"},{"id":"pmh:oai:eprints.ucl.ac.uk.OAI2:10083789","doi":null,"is_oa":false,"landing_page_url":"https://discovery.ucl.ac.uk/id/eprint/10083789/","pdf_url":null,"source":{"id":"https://openalex.org/S4306400024","display_name":"UCL Discovery (University College London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I45129253","host_organization_name":"University College London","host_organization_lineage":["https://openalex.org/I45129253"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Brain Communications (2019) (In press).","raw_type":"Article"}],"best_oa_location":{"id":"doi:10.1093/braincomms/fcz024","doi":"https://doi.org/10.1093/braincomms/fcz024","is_oa":true,"landing_page_url":"https://doi.org/10.1093/braincomms/fcz024","pdf_url":"https://academic.oup.com/braincomms/article-pdf/1/1/fcz024/33639459/fcz024.pdf","source":{"id":"https://openalex.org/S4210235363","display_name":"Brain Communications","issn_l":"2632-1297","issn":["2632-1297"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-d","doyens","jufo-1","ki-jl-1","norway-1","oarl","poland-20","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Brain Communications","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9074000120162964,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G241875673","display_name":"Using genetic variability in whole transcriptome expression in cells and tissues to understand the pathogenesis of Parkinson's and Alzheimer's disease","funder_award_id":"MR/K01417X/1","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G2987511349","display_name":null,"funder_award_id":"AS\u2010JF\u201018\u2010008","funder_id":"https://openalex.org/F4320317015","funder_display_name":"Alzheimer's Society"},{"id":"https://openalex.org/G3323682383","display_name":null,"funder_award_id":"MC_U12266B","funder_id":"https://openalex.org/F4320320286","funder_display_name":"University College London"},{"id":"https://openalex.org/G3327757157","display_name":null,"funder_award_id":"G-0907","funder_id":"https://openalex.org/F4320320021","funder_display_name":"Parkinson's UK"},{"id":"https://openalex.org/G4719527389","display_name":null,"funder_award_id":"MC_U12266B","funder_id":"https://openalex.org/F4320319990","funder_display_name":"National Institute for Health and Care Research"},{"id":"https://openalex.org/G589339204","display_name":"Understanding the genes for Parkinson's disease","funder_award_id":"MR/N026004/1","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G7271375985","display_name":"UKDP: Integrated DEmentiA research environment (IDEA)","funder_award_id":"MR/M02492X/1","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G8259594545","display_name":null,"funder_award_id":"NIHR-INF-0413","funder_id":"https://openalex.org/F4320319990","funder_display_name":"National Institute for Health and Care Research"},{"id":"https://openalex.org/G830246384","display_name":null,"funder_award_id":"MC_ U12266B","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G8452586996","display_name":null,"funder_award_id":"M668-CD1","funder_id":"https://openalex.org/F4320320320","funder_display_name":"Rosetrees Trust"}],"funders":[{"id":"https://openalex.org/F4320317015","display_name":"Alzheimer's Society","ror":"https://ror.org/0472gwq90"},{"id":"https://openalex.org/F4320319990","display_name":"National Institute for Health and Care Research","ror":"https://ror.org/0187kwz08"},{"id":"https://openalex.org/F4320320021","display_name":"Parkinson's UK","ror":"https://ror.org/02417p338"},{"id":"https://openalex.org/F4320320286","display_name":"University College London","ror":"https://ror.org/02jx3x895"},{"id":"https://openalex.org/F4320320320","display_name":"Rosetrees Trust","ror":"https://ror.org/04e3zg361"},{"id":"https://openalex.org/F4320329727","display_name":"Alzheimer\u2019s Society","ror":null},{"id":"https://openalex.org/F4320329730","display_name":"UK Dementia Research Institute","ror":"https://ror.org/02wedp412"},{"id":"https://openalex.org/F4320334626","display_name":"Medical Research Council","ror":"https://ror.org/03x94j517"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2980711048.pdf","grobid_xml":"https://content.openalex.org/works/W2980711048.grobid-xml"},"referenced_works_count":38,"referenced_works":["https://openalex.org/W1579606275","https://openalex.org/W1580479524","https://openalex.org/W1639521477","https://openalex.org/W1655404681","https://openalex.org/W1928655587","https://openalex.org/W1991549727","https://openalex.org/W1998750669","https://openalex.org/W2016193774","https://openalex.org/W2023652080","https://openalex.org/W2030182984","https://openalex.org/W2041981163","https://openalex.org/W2044128314","https://openalex.org/W2051201963","https://openalex.org/W2055247763","https://openalex.org/W2083922876","https://openalex.org/W2084972185","https://openalex.org/W2088989293","https://openalex.org/W2098476040","https://openalex.org/W2142257714","https://openalex.org/W2180506828","https://openalex.org/W2285096912","https://openalex.org/W2338126930","https://openalex.org/W2341922669","https://openalex.org/W2343876552","https://openalex.org/W2412965878","https://openalex.org/W2526202265","https://openalex.org/W2538894230","https://openalex.org/W2742157915","https://openalex.org/W2899807648","https://openalex.org/W2906429538","https://openalex.org/W2908723002","https://openalex.org/W2937299859","https://openalex.org/W2946826056","https://openalex.org/W2962924206","https://openalex.org/W2967807085","https://openalex.org/W4231640017","https://openalex.org/W4252175039","https://openalex.org/W6766982508"],"related_works":["https://openalex.org/W2571803537","https://openalex.org/W2341922669","https://openalex.org/W2022802499","https://openalex.org/W2150684193","https://openalex.org/W1655404681","https://openalex.org/W3165736778","https://openalex.org/W2133561989","https://openalex.org/W2051201963","https://openalex.org/W2400995665","https://openalex.org/W2785522297"],"abstract_inverted_index":{"Abstract":[0],"Mutations":[1],"in":[2,75,94,105,110],"presenilin-1":[3,79,96,126,158],"(PSEN1),":[4],"encoding":[5],"the":[6,10,21,58,95,129,160],"catalytic":[7],"subunit":[8],"of":[9,23,45,120,125,150,157,162],"amyloid":[11,106,136],"precursor":[12,107,137],"protein-processing":[13],"enzyme":[14],"\u03b3-secretase,":[15],"cause":[16],"familial":[17,151],"Alzheimer\u2019s":[18,152],"disease.":[19],"However,":[20],"mechanism":[22],"disease":[24],"is":[25],"yet":[26,90],"to":[27,77],"be":[28],"fully":[29],"understood":[30],"and":[31,68,99,128,143,155],"it":[32],"remains":[33],"contentious":[34],"whether":[35],"mutations":[36,154],"exert":[37],"their":[38],"effects":[39,124],"predominantly":[40],"through":[41],"gain":[42],"or":[43],"loss":[44],"function.":[46],"To":[47],"address":[48],"this":[49],"question,":[50],"we":[51],"generated":[52],"an":[53],"isogenic":[54],"allelic":[55],"series":[56],"for":[57],"PSEN1":[59,111,130],"mutation":[60,134],"intron":[61,112,131],"4":[62,113,132],"deletion;":[63],"represented":[64],"by":[65],"control,":[66],"heterozygous":[67],"homozygous":[69],"mutant":[70,101],"induced":[71],"pluripotent":[72,83],"stem":[73,84],"cells":[74],"addition":[76],"a":[78,100],"knockout":[80,97,127,156],"line.":[81],"Induced":[82],"cell-derived":[85],"cortical":[86],"neurons":[87],"reveal":[88],"reduced,":[89],"detectable":[91],"amyloid-beta":[92,144],"levels":[93],"line,":[98],"gene":[102],"dosage-dependent":[103],"defect":[104],"protein":[108],"processing":[109],"deletion":[114,133],"lines,":[115],"consistent":[116],"with":[117],"reduced":[118],"processivity":[119],"\u03b3-secretase.":[121,163],"The":[122],"different":[123],"on":[135,159],"protein-C99":[138],"fragment":[139],"accumulation,":[140],"nicastrin":[141],"maturation":[142],"peptide":[145],"generation":[146],"support":[147],"distinct":[148],"consequences":[149],"disease-associated":[153],"function":[161]},"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":4},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":4},{"year":2020,"cited_by_count":2}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2019-10-25T00:00:00"}