{"doi":"10.1016/j.neulet.2008.04.029","title":"Novel presenilin 1 variant (P117A) causing Alzheimer's disease in the fourth decade of life","abstract":null,"journal":"Neuroscience Letters","year":2008,"id":610483,"datarank":0.3958585994422889,"base_score":2.639057329615259,"endowment":2.639057329615259,"self_citation_contribution":0.3958585994422889,"citation_network_contribution":0.0,"self_endowment_contribution":0.3958585994422889,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":13,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":242464,"name":"Jun Wang","orcid":"0000-0002-8104-7470","position":1,"is_corresponding":false},{"id":1569601,"name":"Sumi Chakraverty","orcid":null,"position":2,"is_corresponding":false},{"id":817611,"name":"Alison M. Goate","orcid":null,"position":3,"is_corresponding":false},{"id":1569602,"name":"Andres F. Henao-Martinez","orcid":null,"position":4,"is_corresponding":false},{"id":324418,"name":"John S.K. Kauwe","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Novel presenilin 1 variant (P117A) causing Alzheimer's disease in the fourth decade of life","abstract":"Over 160 rare genetic variants in presenilin 1 (PSEN1) are known to cause Alzheimer's disease (AD). In this study we screened a family with early-onset AD for mutations in PSEN1 using direct DNA sequencing. We identified a novel PSEN1 genetic variant which results in the substitution of a Proline with an Alanine at codon 117 (P117A). The P117A variant was present in all demented individuals and fifty percent of at risk individuals. This variant occurs at a site where three other disease-causing variants have been previously observed. In vitro functional studies demonstrate that the P117A variant results in an altered Abeta42/total Abeta ratio consistent with an AD causing mutation. The P117A variant is a novel mutation in PSEN1, which causes early-onset AD in an autosomal dominant manner.","is_dataset_classified":null,"base_score":0.0,"endowment":0.0,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"18479822","pmcid":"PMC2838423","openalex_id":null,"authors":[],"funders":[{"funder_name":"NIA NIH HHS","grant_id":"P50 AG05681","title":null},{"funder_name":"NIA NIH HHS","grant_id":"P50 AG005681","title":null},{"funder_name":"NIA NIH HHS","grant_id":"R01 AG016208","title":null}],"total_grants":3,"fwci":null,"citation_percentile":null,"influential_citations":0,"citation_trend":[],"oa_status":"green","license":"https://doi.org/10.15223/policy-004","oa_locations":[{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2838423","host_type":"repository"},{"url":"https://api.elsevier.com/content/article/PII:S0304394008004667?httpAccept=text/xml","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S0304394008004667?httpAccept=text/plain","host_type":"publisher"}],"fields_of_study":[],"mesh_terms":["Brain","Cell Line","Humans","Alzheimer Disease","Chromosome Disorders","Disease Progression","Genetic Predisposition to Disease","Peptide Fragments","Genetic Markers","Amino Acid Substitution","Pedigree","DNA Mutational Analysis","Gene Frequency","Genotype","Genes, Dominant","Point Mutation","Polymorphism, Genetic","Adult","Female","Male","Presenilin-1","Genetic Testing","Amyloid beta-Peptides"],"keywords":[],"sdg_mappings":[],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-07-31T22:28:41.675972Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}