ArticleProceedings of the National Academy of Sciences of the United States of America1999
Unusual phenotypic alteration of beta amyloid precursor protein (betaAPP) maturation by a new Val-715 --> Met betaAPP-770 mutation responsible for probable early-onset Alzheimer's disease.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers.
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Who cites it
54 citing papers in PubMed, 177 citations in OpenAlex.
- Insights into Missense SNPs on Amyloidogenic Proteins.Proteomes · 2025Article
- Key questions for the future of amyloid research in dementia: a framework for integrating complex datasets.Molecular psychiatry · 2025Review
- Modeling Alzheimer's Disease: A Review of Gene-Modified and Induced Animal Models, Complex Cell Culture Models, and Computational Modeling.Brain sciences · 2025Review
- Advances in the cell biology of the trafficking and processing of amyloid precursor protein: impact of familial Alzheimer's disease mutations.The Biochemical journal · 2024Review
- AβACS chemical neuroscience · 2023Article
- Clinical characteristics and genotype-phenotype correlation analysis of familial Alzheimer's disease patients with pathogenic/likely pathogenic amyloid protein precursor mutations.Frontiers in aging neuroscience · 2022Article
- Screening for Genetic Mutations Associated with Early-Onset Alzheimer's Disease in Han Chinese.Current Alzheimer research · 2022Article
- The role of genetics in neurodegenerative dementia: a large cohort study in South China.NPJ genomic medicine · 2021Article
- N-Truncated Aβ Starting at Position Four-Biochemical Features, Preclinical Models, and Potential as Drug Target in Alzheimer's Disease.Frontiers in aging neuroscience · 2021Article
- Alzheimer's Disease: An Overview of Major Hypotheses and Therapeutic Options in Nanotechnology.Nanomaterials (Basel, Switzerland) · 2020Review
- Gene mutations associated with early onset familial Alzheimer's disease in China: An overview and current status.Molecular genetics & genomic medicine · 2020Review
- Central and Peripheral Metabolic Defects Contribute to the Pathogenesis of Alzheimer's Disease: Targeting Mitochondria for Diagnosis and Prevention.Antioxidants & redox signaling · 2020Review
- The Genetics of Alzheimer's Disease in the Chinese Population.International journal of molecular sciences · 2020Review
- Influence of the familial Alzheimer's disease-associated T43I mutation on the transmembrane structure and γ-secretase processing of the C99 peptide.The Journal of biological chemistry · 2019Article
- Processing of Mutant β-Amyloid Precursor Protein and the Clinicopathological Features of Familial Alzheimer's Disease.Aging and disease · 2019Review
- Capturing Aβ42 aggregation in the cell.The Journal of biological chemistry · 2019Article
- Are N- and C-terminally truncated Aβ species key pathological triggers in Alzheimer's disease?The Journal of biological chemistry · 2018Review
- Efficient production of a mature and functional gamma secretase protease.Scientific reports · 2018Article
- Coupled Transmembrane Substrate Docking and Helical Unwinding in Intramembrane Proteolysis of Amyloid Precursor Protein.Scientific reports · 2018Article
- Understanding the roles of mutations in the amyloid precursor protein in Alzheimer disease.Molecular psychiatry · 2018Review
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We have identified a novel beta amyloid precursor protein (betaAPP) mutation (V715M-betaAPP770) that cosegregates with early-onset Alzheimer's disease (AD) in a pedigree. Unlike other familial AD-linked betaAPP mutations reported to date, overexpression of V715M-betaAPP in human HEK293 cells and murine neurons reduces total Abeta production and increases the recovery of the physiologically secreted product, APPalpha. V715M-betaAPP significantly reduces Abeta40 secretion without affecting Abeta42 production in HEK293 cells. However, a marked increase in N-terminally truncated Abeta ending at position 42 (x-42Abeta) is observed, whereas its counterpart x-40Abeta is not affected. These results suggest that, in some cases, familial AD may be associated with a reduction in the overall production of Abeta but may be caused by increased production of truncated forms of Abeta ending at the 42 position.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.