The DOI matches its Crossref record; 48 of the 48 references it cites were found in a registry or an index.
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
Abstract
Some cases of Alzheimer's disease are inherited as an autosomal dominant trait. Genetic linkage studies have mapped a locus (AD3) associated with susceptibility to a very aggressive form of Alzheimer's disease to chromosome 14q24.3. We have defined a minimal cosegregating region containing the AD3 gene, and isolated at least 19 different transcripts encoded within this region. One of these transcripts (S182) corresponds to a novel gene whose product is predicted to contain multiple transmembrane domains and resembles an integral membrane protein. Five different missense mutations have been found that cosegregate with early-onset familial Alzheimer's disease. Because these changes occurred in conserved domains of this gene, and are not present in normal controls, they are likely to be causative of AD3.
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“Early onset Alzheimer's disease can be caused by mutations in the APP (Chartier-Harlin et al., 1991;Goate et al., 1991;Murrell et al., 1991;Mullan et al., 1992), presenilin 1 (PS1) (Sherrington et al., 1995), and presenilin 2 (PS2) (Levy-Lahad et al., 1995) genes.”
From Age-Dependent Changes in Brain, CSF, and Plasma Amyloid β Protein in the Tg2576 Transgenic Mouse Model of Alzheimer's Disease (2001) · cites this paper as Sherrington et al., 1995
In the citing paper
“The amyloid cascade hypothesis of Alzheimer disease (AD), which proposes that deposition of the amyloid-β (Aβ) peptide in the brain is a central event in disease pathology (Figure 1), is strongly supported by neuropathological and human genetic evidence”
From The amyloid hypothesis in Alzheimer disease: new insights from new therapeutics (2022) · cites this paper as [3]
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Cites
Basic local alignment search tool
Altschul, S. F., Gish, W., Miller, W., Myers, E. W., & Lipman, D. J. (1990) · Journal of Molecular Biology · doi:10.1006/jmbi.1990.9999 · Cited by 98,669
A simple method for displaying the hydropathic character of a protein
Kyte, J., & Doolittle, R. F. (1982) · Journal of Molecular Biology · doi:10.1016/0022-2836(82)90515-0 · Cited by 22,927
MACDONALD, M. (1993) · Cell · doi:10.1016/0092-8674(93)90585-e · Cited by 8,366
Goate, A., Chartier-Harlin, M.-C., Mullan, M., Brown, J., Crawford, F., Fidani, L., Giuffra, L., Haynes, A., Irving, N., James, L., et al. (1991) · Nature · doi:10.1038/349704a0 · Cited by 4,659
Self-citationStrittmatter, W. J., Saunders, A. M., Schmechel, D., Pericak-Vance, M., Enghild, J., Salvesen, G. S., & Roses, A. D. (1993) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.90.5.1977 · Cited by 4,268
Self-citationIdentification of the Cystic Fibrosis Gene: Genetic Analysis
Kerem, B.-S., Rommens, J. M., Buchanan, J. A., Markiewicz, D., Cox, T. K., Chakravarti, A., Buchwald, M., & Tsui, L.-C. (1989) · Science · doi:10.1126/science.2570460 · Cited by 4,142
Self-citationAssociation of apolipoprotein E allele ϵ4 with late‐onset familial and sporadic Alzheimer's disease
Saunders, A. M., Strittmatter, W. J., Schmechel, D., St. George-Hyslop, P. H., Pericak-Vance, M. A., Joo, S. H., Rosi, B. L., Gusella, J. F., Crapper-MacLachlan, D. R., Alberts, M. J., et al. (1993) · Neurology · doi:10.1212/wnl.43.8.1467 · Cited by 3,786
Self-citationThe 1993–94 Généthon human genetic linkage map
Gyapay, G., Morissette, J., Alain Vignal, A., Dib, C., Fizames, C., Millasseau, P., Marc, S., Bernardi, G., Lathrop, M. G., & Weissenbach, J. (1994) · Nature Genetics · doi:10.1038/ng0694supp-246 · Cited by 1,835
Structural features in eukaryotic mRNAs that modulate the initiation of translation.
Kozak, M. (1991) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)54860-2 · Cited by 1,826
A second-generation linkage map of the human genome
Weissenbach, J., Gyapay, G., Dib, C., Alain Vignal, A., Morissette, J., Millasseau, P., Vaysseix, G., & Lathrop, M. G. (1992) · Nature · doi:10.1038/359794a0 · Cited by 1,672
Research works printed but not linked: 8
- Foncin, J.-F. et al. Rev. Neurol. 141, 194–202 (1985).
- Bergamini, L. et al. Acta neurol. 13, 534–538 (1991).
- Cruts, M. et al. Neurobiol Aging 15, S129 (1994).
- Saleeba, J. A. & Cotton, R. G. Meth. Enzym. 217, 285–295 (1993).
- Liu, Q. & Sommer, S. S. BioTechniques 18, 470–476 (1995).
- Altschul, S. F., Gish, W., Miller, W., Myers, E. W. & Lipman, D. J. molec. Biol. 215, 403–410 (1990). · DOI · Paper page
- Schellenberg, G. D. et al. Am. J. hum. Genet. 53, 619–628 (1993).
- Kosik, K. & Greenberg, S. M. in Alzheimer Disease (eds Terry, R. D., Katzman, R. & Bick, K. L.) 335–344 (Raven, New York, 1994).
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Initial sequencing and analysis of the human genome
International Human Genome Sequencing Consortium, Whitehead Institute for Biomedical Research, C. F. G. R., Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., Dewar, K., et al. (2001) · Nature · doi:10.1038/35057062 · Cited by 24,216
Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease
Polymeropoulos, M. H., Lavedan, C., Leroy, E., Ide, S. E., Dehejia, A., Dutra, A., Pike, B., Root, H., Rubenstein, J., Boyer, R., et al. (1997) · Science · doi:10.1126/science.276.5321.2045 · Cited by 8,240
Alzheimer's Disease: Genes, Proteins, and Therapy
Selkoe, D. J. (2001) · Physiological Reviews · doi:10.1152/physrev.2001.81.2.741 · Cited by 6,063
Gauthier, S. G., Reisberg, ., Zaudig, M., Petersen, R. C., Ritchie, K. A., Broich, K., Belleville, S., Brodaty, H., Bennett, D. A., Chertkow, H. M., et al. (2006) · The Lancet · doi:10.1016/s0140-6736(06)68542-5 · Cited by 4,094
Blennow, K., de Leon, M. J., & Zetterberg, H. (2006) · The Lancet · doi:10.1016/s0140-6736(06)69113-7 · Cited by 3,134
Metadata
- Authors
- Sherrington, R., Rogaev, E. I., Liang, Y., Rogaeva, E. A., Levesque, G., Ikeda, M., Chi, H., Lin, C., Li, G., Holman, K., Tsuda, T., Mar, L., Foncin, J.-F., Bruni, A. C., Montesi, M. P., Sorbi, S., Rainero, I., Pinessi, L., Nee, L., Chumakov, I., Pollen, D., Brookes, A., Sanseau, P., Polinsky, R. J., Wasco, W., Da Silva, H. A. R., Haines, J. L., Pericak-Vance, M. A., Tanzi, R. E., Roses, A. D., Fraser, P. E., Rommens, J. M., & St George-Hyslop, P. H.
- Affiliations
- University of Toronto (CA)
- Inserm (FR)
- University of Florence (IT)
- University of Turin (IT)
- National Institutes of Health (US)
- Fondation Jean Dausset-CEPH (FR)
- University of Massachusetts Chan Medical School (US)
- Western General Hospital (GB)
- Sandoz Group AG (Switzerland) (CH)
- Harvard University (US)
- Duke University (US)
- ORCID
- Venue
- Nature
- Published
- 1995-06
- Volume
- 375
- Issue
- 6534
- Pages
- 754-760
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W2046209489
- Cited by
- 4,051
- References
- 48
- Citations by year
- 2026: 36 · 2025: 70 · 2024: 78 · 2023: 54 · 2022: 93 · 2021: 93 · 2020: 118 · 2019: 107 · 2018: 105 · 2017: 116 · 2016: 140 · 2015: 100 · 2014: 132 · 2013: 120 · 2012: 134
- FWCI
- 144.01
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Florence Research (University of Florence) (submittedVersion)
- Institutional Research Information System University of Turin (University of Turin) (submittedVersion)
- Funders
- Canadian Institutes of Health Research (64309)
- 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
- early-onset familial Alzheimer's disease, missense mutations, autosomal dominant inheritance, gene cloning, co-segregation, transmembrane proteins, novel genes, susceptibility genes
- MeSH terms
- Alzheimer Disease, Amino Acid Sequence, Animals, Base Sequence, Chromosome Mapping, Chromosomes, Human, Pair 14, Cloning, Molecular, Female, Humans, Male, Membrane Proteins, Molecular Sequence Data, Mutation, Pedigree, Transcription, Genetic, Open Reading Frames, Protein Structure, Secondary, Mice, Presenilin-1
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