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Mutations of the presenilin I gene in families with early-onset Alzheimer's disease
Abstract
We analyzed 12 families with autosomal dominant early-onset Alzheimer' s disease (EOAD)for mutations in the coding region of the presenilin I (PSNLI) gene corresponding to the AD3 locus on chromosome 14q24.3. A total of eight missense mutations at codons 82, 115, 139, 163, 231, 264, 392, and 410 including six novel mutations, were identified in eight families. Cosegregation of the mutations with EOAD was confirmed in three families, one including 36 affected individuals. This study underlines the great allelic heterogeneity and the large distribution of the mutations within the PSNLI coding region. Our results support the notion that PSNLI is the major gene involved in autosomal dominant EOAD.
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Cited by
Borchelt, D. R., Thinakaran, G., Eckman, C. B., Lee, M. K., Davenport, F., Ratovitsky, T., Prada, C.-M., Kim, G., Seekins, S., Yager, D., et al. (1996) · Neuron · doi:10.1016/s0896-6273(00)80230-5 · Cited by 1,478
Skeletal and CNS Defects in Presenilin-1-Deficient Mice
Shen, J., Bronson, R. T., Chen, D. F., Xia, W., Selkoe, D. J., & Tonegawa, S. (1997) · Cell · doi:10.1016/s0092-8674(00)80244-5 · Cited by 959
Campion, D., Dumanchin, C., Hannequin, D., Dubois, B., Belliard, S., Puel, M., Thomas-Anterion, C., Michon, A., Martin, C., Charbonnier, F., et al. (1999) · The American Journal of Human Genetics · doi:10.1086/302553 · Cited by 785
Self-citationAmyloid cascade hypothesis: Pathogenesis and therapeutic strategies in Alzheimer's disease
Barage, S. H., & Sonawane, K. D. (2015) · Neuropeptides · doi:10.1016/j.npep.2015.06.008 · Cited by 579
Cruts, M., van Duijn, C. M., Backhovens, H., Van den Broeck, M., Wehnert, A., Serneels, S., Sherrington, R., Hutton, M., Hardy, J., St George-Hyslop, P. H., et al. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.1.43 · Cited by 432
Metadata
- Authors
- Campion, D., Flaman, J.-M., Brice, A., Hannequin, D., Dubois, B., Martin, C., Moreau, V., Charbonnier, F., Didierjean, O., Tardieu, S., Penet, C., Puel, M., Pasquier, F., Le Doze, F., Bellis, G., Calenda, A., Heilig, R., Martinez, M., Mallet, J., Bellis, M., Clerget-Darpoux, F., Agid, Y., & Frebourg, T.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 1995
- Volume
- 4
- Issue
- 12
- Pages
- 2373-2377
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2011924331
- Cited by
- 277
- References
- 0
- FWCI
- 14.36
- Type
- journal article
- Language
- en
- Open access
- closed
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- Campion, D., Flaman, J.-M., Brice, A., Hannequin, D., Dubois, B., Martin, C., Moreau, V., Charbonnier, F., Didierjean, O., Tardieu, S., Penet, C., Puel, M., Pasquier, F., Le Doze, F., Bellis, G., Calenda, A., Heilig, R., Martinez, M., Mallet, J., . . . Frebourg, T. (1995). Mutations of the presenilin I gene in families with early-onset Alzheimer's disease. Human Molecular Genetics. https://doi.org/10.1093/hmg/4.12.2373
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