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Candidate gene for the chromosome 1 familial Alzheimer’s disease locus
Abstract
A candidate gene for the chromosome 1 Alzheimer's disease (AD) locus was identified (STM2). The predicted amino acid sequence for STM2 is homologous to that of the recently cloned chromosome 14 AD gene (S182). A point mutation in STM2, resulting in the substitution of an isoleucine for an asparagine (N141l), was identified in affected people from Volga German AD kindreds. This N141l 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.
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“In addition to lipid derangements, loss of function of GBA directly impairs global lysosomal function and protease activity, resulting in reduced alpha-synuclein clearance via macroautophagy.98”
From The lysosome and proteostatic stress at the intersection of pediatric neurological disorders and adult neurodegenerative diseases (2025) · cites this paper as [98]
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Mitochondrial Function and Neurodegenerative Diseases
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E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles
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Metadata
- Authors
- Levy-Lahad, E., Wasco, W., Poorkaj, P., Romano, D. M., Oshima, J., Pettingell, W. H., Yu, C.-E., Jondro, P. D., Schmidt, S. D., Wang, K., Crowley, A. C., Fu, Y.-H., Guenette, S. Y., Galas, D., Nemens, E., Wijsman, E. M., Bird, T. D., Schellenberg, G. D., & Tanzi, R. E.
- Affiliations
- Geriatric Research Education, and Clinical Center (182B), Veterans Affairs Medical Center, Seattle, WA 98108, USA.
- Massachusetts General Hospital (US)
- United States Department of Veterans Affairs (US)
- Darwin Molecular, Bothell, WA 98021, USA.
- Genetics and Aging Unit, Massachusetts General Hospital, Charlestown, MA 02129, USA.
- University of Washington (US)
- ORCID
- Venue
- Science
- Published
- 1995-08-18
- Volume
- 269
- Issue
- 5226
- Pages
- 973-977
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2083633251
- Cited by
- 2,577
- References
- 25
- Citations by year
- 2026: 17 · 2025: 46 · 2024: 66 · 2023: 47 · 2022: 43 · 2021: 65 · 2020: 84 · 2019: 72 · 2018: 65 · 2017: 77 · 2016: 90 · 2015: 63 · 2014: 78 · 2013: 82 · 2012: 83
- FWCI
- 99.06
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (5r01ag011899-03)
- National Institute on Aging (AG0513C, R01AG011762, R01 AG 11762, R01-AG11899)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Life Sciences › Neuroscience › Neurology › Neuroinflammation and Neurodegeneration Mechanisms
- Keywords
- familial Alzheimer's disease, candidate genes, missense mutations, gene homology, pathogenic variants
- MeSH terms
- Adult, Aged, Alzheimer Disease, Amino Acid Sequence, Base Sequence, Chromosome Mapping, Chromosomes, Human, Pair 1, Cloning, Molecular, Female, Germany, Humans, Lod Score, Male, Membrane Proteins, Middle Aged, Molecular Sequence Data, Mutation, Pedigree, Gene Expression, Point Mutation, DNA, Complementary, Presenilin-2
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