The DOI matches its Crossref record; 19 of the 19 references it cites were found in a registry or an index.
A Recessive Mutation in the APP Gene with Dominant-Negative Effect on Amyloidogenesis
Open accessAbstract
β-Amyloid precursor protein (APP) mutations cause familial Alzheimer's disease with nearly complete penetrance. We found an APP mutation [alanine-673→valine-673 (A673V)] that causes disease only in the homozygous state, whereas heterozygous carriers were unaffected, consistent with a recessive Mendelian trait of inheritance. The A673V mutation affected APP processing, resulting in enhanced β-amyloid (Aβ) production and formation of amyloid fibrils in vitro. Co-incubation of mutated and wild-type peptides conferred instability on Aβ aggregates and inhibited amyloidogenesis and neurotoxicity. The highly amyloidogenic effect of the A673V mutation in the homozygous state and its anti-amyloidogenic effect in the heterozygous state account for the autosomal recessive pattern of inheritance and have implications for genetic screening and the potential treatment of Alzheimer's disease.
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Cites
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Cited by
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A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline
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Metadata
- Authors
- Di Fede, G., Catania, M., Morbin, M., Rossi, G., Suardi, S., Mazzoleni, G., Merlin, M., Giovagnoli, A. R., Prioni, S., Erbetta, A., Falcone, C., Gobbi, M., Colombo, L., Bastone, A., Beeg, M., Manzoni, C., Francescucci, B., Spagnoli, A., Cantù, L., Del Favero, E., Levy, E., Salmona, M., & Tagliavini, F.
- Venue
- Science
- Published
- 2009-03-13
- Volume
- 323
- Issue
- 5920
- Pages
- 1473-1477
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2037001270
- Cited by
- 416
- References
- 19
- FWCI
- 13.38
- Type
- journal article
- Language
- en
- Open access
- green
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- Di Fede, G., Catania, M., Morbin, M., Rossi, G., Suardi, S., Mazzoleni, G., Merlin, M., Giovagnoli, A. R., Prioni, S., Erbetta, A., Falcone, C., Gobbi, M., Colombo, L., Bastone, A., Beeg, M., Manzoni, C., Francescucci, B., Spagnoli, A., Cantù, L., . . . Tagliavini, F. (2009). A Recessive Mutation in the APP Gene with Dominant-Negative Effect on Amyloidogenesis. Science. https://doi.org/10.1126/science.1168979
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
