{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,2]],"date-time":"2026-04-02T09:58:51Z","timestamp":1775123931168,"version":"3.50.1"},"reference-count":30,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"5226","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Science"],"published-print":{"date-parts":[[1995,8,18]]},"abstract":"<jats:p>\n            A candidate gene for the chromosome 1 Alzheimer's disease (AD) locus was identified (\n            <jats:italic>STM2<\/jats:italic>\n            ). The predicted amino acid sequence for\n            <jats:italic>STM2<\/jats:italic>\n            is homologous to that of the recently cloned chromosome 14 AD gene (S182). A point mutation in\n            <jats:italic>STM2<\/jats:italic>\n            , resulting in the substitution of an isoleucine for an asparagine (N141I), was identified in affected people from Volga German AD kindreds. This N141I mutation occurs at an amino acid residue that is conserved in human S182 and in the mouse S182 homolog. The presence of missense mutations in AD subjects in two highly similar genes strongly supports the hypothesis that mutations in both are pathogenic.\n          <\/jats:p>","DOI":"10.1126\/science.7638622","type":"journal-article","created":{"date-parts":[[2006,10,27]],"date-time":"2006-10-27T18:19:42Z","timestamp":1161973182000},"page":"973-977","source":"Crossref","is-referenced-by-count":1973,"title":["Candidate Gene for the Chromosome 1 Familial Alzheimer's Disease Locus"],"prefix":"10.1126","volume":"269","author":[{"given":"Ephrat","family":"Levy-Lahad","sequence":"first","affiliation":[{"name":"Geriatric Research Education, and Clinical Center (182B), Veterans Affairs Medical Center, Seattle, WA 98108, USA."}]},{"given":"Wilma","family":"Wasco","sequence":"additional","affiliation":[{"name":"Genetics and Aging Unit, Massachusetts General Hospital, Charlestown, MA 02129, USA."}]},{"given":"Parvoneh","family":"Poorkaj","sequence":"additional","affiliation":[{"name":"Geriatric Research Education, and Clinical Center (182B), Veterans Affairs Medical Center, Seattle, WA 98108, USA."}]},{"given":"Donna M.","family":"Romano","sequence":"additional","affiliation":[{"name":"Genetics and Aging Unit, Massachusetts General Hospital, Charlestown, MA 02129, USA."}]},{"given":"Junko","family":"Oshima","sequence":"additional","affiliation":[{"name":"Geriatric Research Education, and Clinical Center (182B), Veterans Affairs Medical Center, Seattle, WA 98108, USA."}]},{"given":"Warren H.","family":"Pettingell","sequence":"additional","affiliation":[{"name":"Genetics and Aging Unit, Massachusetts General Hospital, Charlestown, MA 02129, USA."}]},{"given":"Chang-en","family":"Yu","sequence":"additional","affiliation":[{"name":"Geriatric Research Education, and Clinical Center (182B), Veterans Affairs Medical Center, Seattle, WA 98108, USA."}]},{"given":"Paul D.","family":"Jondro","sequence":"additional","affiliation":[{"name":"Genetics and Aging Unit, Massachusetts General Hospital, Charlestown, MA 02129, USA."}]},{"given":"Stephen D.","family":"Schmidt","sequence":"additional","affiliation":[{"name":"Genetics and Aging Unit, Massachusetts General Hospital, Charlestown, MA 02129, USA."}]},{"given":"Kai","family":"Wang","sequence":"additional","affiliation":[{"name":"Darwin Molecular, Bothell, WA 98021, USA."}]},{"given":"Annette C.","family":"Crowley","sequence":"additional","affiliation":[{"name":"Genetics and Aging Unit, Massachusetts General Hospital, Charlestown, MA 02129, USA."}]},{"given":"Ying-Hui","family":"Fu","sequence":"additional","affiliation":[{"name":"Darwin Molecular, Bothell, WA 98021, USA."}]},{"given":"Suzanne Y.","family":"Guenette","sequence":"additional","affiliation":[{"name":"Genetics and Aging Unit, Massachusetts General Hospital, Charlestown, MA 02129, USA."}]},{"given":"David","family":"Galas","sequence":"additional","affiliation":[{"name":"Darwin Molecular, Bothell, WA 98021, USA."}]},{"given":"Ellen","family":"Nemens","sequence":"additional","affiliation":[{"name":"Geriatric Research Education, and Clinical Center (182B), Veterans Affairs Medical Center, Seattle, WA 98108, USA."}]},{"given":"Ellen M.","family":"Wijsman","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Medicine and Department of Biostatistics, University of Washington, Seattle, WA 98195, USA."}]},{"given":"Thomas D.","family":"Bird","sequence":"additional","affiliation":[{"name":"Division of Neurology, Veterans Affairs Medical Center, Seattle, WA 98108, USA."}]},{"given":"Gerard D.","family":"Schellenberg","sequence":"additional","affiliation":[{"name":"Geriatric Research Education, and Clinical Center (182B), Veterans Affairs Medical Center, Seattle, WA 98108, USA."}]},{"given":"Rudolph E.","family":"Tanzi","sequence":"additional","affiliation":[{"name":"Genetics and Aging Unit, Massachusetts General Hospital, Charlestown, MA 02129, USA."}]}],"member":"221","reference":[{"key":"e_1_2_1_1_1","doi-asserted-by":"crossref","first-page":"1609","DOI":"10.1016\/S0021-9258(18)45989-3","volume":"267","year":"1992","unstructured":"AZUMA, T, HUMAN GASTRIC CATHEPSIN-E GENE - MULTIPLE TRANSCRIPTS RESULT FROM ALTERNATIVE POLYADENYLATION OF THE PRIMARY TRANSCRIPTS OF A SINGLE GENE LOCUS AT 1Q31-Q32, JOURNAL OF BIOLOGICAL CHEMISTRY 267: 1609 (1992).","journal-title":"JOURNAL OF BIOLOGICAL CHEMISTRY"},{"key":"e_1_2_1_2_1","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1016\/0006-8993(94)91509-1","volume":"667","year":"1994","unstructured":"BERNSTEIN, H.G., AN IMMUNOHISTOCHEMICAL STUDY OF CATHEPSIN-E IN ALZHEIMER-TYPE DEMENTIA BRAINS, BRAIN RESEARCH 667: 287 (1994).","journal-title":"BRAIN RESEARCH"},{"key":"e_1_2_1_3_1","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1002\/ana.410230106","volume":"23","year":"1988","unstructured":"BIRD, T.D., FAMILIAL ALZHEIMERS-DISEASE IN AMERICAN DESCENDANTS OF THE VOLGA GERMANS - PROBABLE GENETIC FOUNDER EFFECT, ANNALS OF NEUROLOGY 23: 25 (1988).","journal-title":"ANNALS OF NEUROLOGY"},{"key":"e_1_2_1_4_1","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1002\/ana.410250104","volume":"25","year":"1989","unstructured":"BIRD, T.D., PHENOTYPIC HETEROGENEITY IN FAMILIAL ALZHEIMERS-DISEASE - 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