The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families
Open accessAbstract
Genetic linkage studies place a gene causing early onset familial Alzheimer's disease (FAD) on chromosome 14q24.3 (refs 1-4). Five mutations within the S182 (Presenilin 1: PS-1) gene, which maps to this region, have recently been reported in several early onset FAD kindreds. We have localized the PS-1 gene to a 75 kb region and present the structure of this gene, evidence for alternative splicing and describe six novel mutations in early onset FAD pedigrees all of which alter residues conserved in the STM2 (Presenilin 2: PS-2) gene.
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Lysosomal fusion is implicated in the development of the growth cone and presynapse.
“On the axonal side of the synapse, lysosomal fusion is implicated in the development of the growth cone and presynapse.33”
From The lysosome and proteostatic stress at the intersection of pediatric neurological disorders and adult neurodegenerative diseases (2025) · cites this paper as [33]
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References 21 · Cited by 474
- Authors
- Clark, R. F., Hutton, M., Fuldner, M., Froelich, S., Karran, E., Talbot, C., Crook, R., Lendon, C., Prihar, G., He, C., Korenblat, K., Martinez, A., Wragg, M., Busfield, F., Behrens, M. I., Myers, A., Norton, J., Morris, J., Mehta, N., Pearson, C., Lincoln, S., Baker, M., Duff, K., Zehr, C., Perez-Tur, J., Houlden, H., Ruiz, A., Ossa, J., Lopera, F., Arcos, M., Madrigal, L., Collinge, J., Humphreys, C., Ashworth, A., Sarner, S., Fox, N., Harvey, R., Kennedy, A., Roques, P., Cline, R. T., Philips, C. A., Venter, J. C., Forsell, L., Axelman, K., Lilius, L., Johnston, J., Cowburn, R., Viitanen, M., Winblad, B., Kosik, K., Haltia, M., Poyhonen, M., Dickson, D., Mann, D., Neary, D., Snowden, J., Lantos, P., Lannfelt, L., Rossor, M., Roberts, G. W., Adams, M. D., Hardy, J., & Goate, A.
- Affiliations
- Washington University in St. Louis (US)
- University of South Florida (US)
- Karolinska Institutet (SE)
- Universidad de Antioquia (CO)
- National Hospital for Neurology and Neurosurgery (GB)
- Brigham and Women's Hospital (US)
- University of Helsinki (FI)
- Albert Einstein College of Medicine (US)
- University of Manchester (GB)
- ORCID
- Venue
- Nature Genetics
- Published
- 1995-10
- Volume
- 11
- Issue
- 2
- Pages
- 219-222
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2029486567
- Cited by
- 474
- References
- 21
- Citations by year
- 2026: 4 · 2025: 8 · 2024: 11 · 2023: 4 · 2022: 14 · 2021: 13 · 2020: 15 · 2019: 11 · 2018: 7 · 2017: 9 · 2016: 10 · 2015: 9 · 2014: 6 · 2013: 4 · 2012: 4
- FWCI
- 32.47
- Type
- journal article
- Language
- en
- Open access
- Licence
- other-oa
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Repositorio Digital - Academia Colombiana de Ciencias Exactas, Fisicas y Naturales (submittedVersion, other-oa)
- Funders
- National Institutes of Health (5r01ag012028-02)
- National Institute on Aging (AG1187, AG-00634, AG 12028)
- Topics
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Keywords
- presenilin 1, early-onset familial Alzheimer's disease, novel mutations, alternative splicing, presenilin 2, gene mapping, mutation detection
- MeSH terms
- Age Factors, Alzheimer Disease, Amino Acid Sequence, Base Sequence, Chromosome Mapping, Chromosomes, Human, Pair 14, Exons, Family, Humans, Introns, Genetic Linkage, Membrane Proteins, Molecular Sequence Data, Pedigree, Genomic Library, Polymerase Chain Reaction, Point Mutation, Alternative Splicing, Age of Onset, DNA Primers, Presenilin-1
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