Increased in Vivo Amyloid-β42 Production, Exchange, and Loss in Presenilin Mutation Carriers
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Aβ42 kinetics are altered in the central nervous system of patients with autosomal dominant Alzheimer’s disease.
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Similar to PSEN1, PSEN2 mutations may also cause increased production of long Aβ peptide species.
“Similar to PSEN1 , PSEN2 mutations may also cause increased production of long A 𝛃 peptide species (481, 523), although this needs more investigation.”
From Blood-Brain Barrier: From Physiology to Disease and Back (2019) · cites this paper as [481]
One possible explanation is that the large rise in aggregated tau sequesters phosphorylated tau in the brain, lowering CSF levels.
“One possible explanation for this is similar to what has been observed with soluble/aggregated Aβ52: that the dramatic increase of aggregated tau sequesters phosphorylated tau53 in the brain, decreasing CSF levels.”
From A soluble phosphorylated tau signature links tau, amyloid and the evolution of stages of dominantly inherited Alzheimer’s disease (2020) · cites this paper as [52]
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- Authors
- Potter, R., Patterson, B. W., Elbert, D. L., Ovod, V., Kasten, T., Sigurdson, W., Mawuenyega, K., Blazey, T., Goate, A., Chott, R., Yarasheski, K. E., Holtzman, D. M., Morris, J. C., Benzinger, T. L. S., & Bateman, R. J.
- Affiliations
- Washington University in St. Louis (US)
- Corresponding author
- Potter, Rachel
- Patterson, Bruce W.
- Bateman, Randall J.
- ORCID
- Venue
- Science Translational Medicine
- Published
- 2013-06-12
- Volume
- 5
- Issue
- 189
- Pages
- 189ra77-189ra77
- ISSN
- 1946-6234 (ISSN-L)
- 1946-6242
- PMC
- PMC3838868
- OpenAlex
- W2164765564
- Cited by
- 236
- References
- 47
- Citations by year
- 2026: 10 · 2025: 12 · 2024: 14 · 2023: 21 · 2022: 17 · 2021: 17 · 2020: 30 · 2019: 15 · 2018: 22 · 2017: 21 · 2016: 19 · 2015: 16 · 2014: 16 · 2013: 6
- FWCI
- 13.23
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Science Translational Medicine (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health (5p60dk020579-35, 5p41rr000954-34, UL1TR000448)
- National Institute on Aging (5P01 AG026272, 5P01AG026276-S1, P01AG026276, U24AG021886)
- National Institute of General Medical Sciences (R24GM136766, P41GM103422)
- National Institute of Diabetes and Digestive and Kidney Diseases (P60-DK-020579, P30DK056341, P30DK020579)
- National Institute of Neurological Disorders and Stroke (R01NS065667)
- National Center for Research Resources (P41-RR000954, UL1RR024992)
- National Center for Advancing Translational Sciences
- Topics
- Health Sciences › Medicine › Physiology › 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
- amyloid-beta 42, Aβ40, presenilin mutations, autosomal dominant Alzheimer's disease, presenilin 1, presenilin 2, amyloid plaques, cerebrospinal fluid amyloid, Pittsburgh compound B PET, mutation carriers
- MeSH terms
- Adult, Alzheimer Disease, Amyloid, Female, Humans, Male, Middle Aged, Mutation, Amyloid beta-Peptides, Positron-Emission Tomography, Presenilins
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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