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Genetics of β-Amyloid Precursor Protein in Alzheimer's Disease
Tcw J, Goate AM.. Cold Spring Harbor perspectives in medicine, 2017-06-01
Topic: Disease mechanisms in lab and animal studies
Plain-language summary
Alzheimer's disease (AD) is characterized neuropathologically by neuronal cell loss, extracellular neuritic plaques composed of β-amyloid (Aβ), and intracellular neurofibrillary tangles composed of hyperphosphorylated tau protein. Aβ is generated by proteolytic processing of the β-amyloid precursor protein (APP). Most individuals with Down syndrome (DS) have three copies of APP , leading to elevated APP expression, increased Aβ deposition, and characteristic AD neuropathology. Sequencing of APP in familial early-onset AD identified missense mutations that cause AD, while a recently discovered coding variant, APP A673T, reduces the risk for AD. Cellular and animal studies show that risk-associated mutations increase total Aβ levels, Aβ42 levels, or Aβ fibrillogenesis, while protective alleles reduce Aβ levels. Together, these studies provide compelling evidence for the Aβ hypothesis and suggest that therapeutics that reduces Aβ levels or Aβ fibrillogenesis should lower the risk for or prevent AD.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Tcw, J., & Goate, A. M. (2017). Genetics of β-Amyloid Precursor Protein in Alzheimer's Disease. Cold Spring Harbor perspectives in medicine. https://doi.org/10.1101/cshperspect.a024539
Vancouver
Tcw J, Goate AM. Genetics of β-Amyloid Precursor Protein in Alzheimer's Disease. Cold Spring Harbor perspectives in medicine. 2017. doi:10.1101/cshperspect.a024539. PMID: 28003277.
BibTeX
@article{tcw2017-28003277,
author = {Tcw, J. and Goate, A. M.},
title = {{Genetics of β-Amyloid Precursor Protein in Alzheimer's Disease}},
journal = {Cold Spring Harbor perspectives in medicine},
year = {2017},
doi = {10.1101/cshperspect.a024539},
pmid = {28003277},
url = {https://doi.org/10.1101/cshperspect.a024539}
}
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Key findings
- Together, these studies provide compelling evidence for the Aβ hypothesis and suggest that therapeutics that reduces Aβ levels or Aβ fibrillogenesis should lower the risk for or prevent AD.
Study details
- Evidence strengthLow
How this study scored 38/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported, studied in people and randomized / blinded because the record does not state it. We have no data on journal's citation record, times cited, citations per year, impact for its field and year, cited by studies here, still being cited, senior author's track record, institution's track record and multicenter collaboration, so those were left out: it earned 22 of the 58 points we could judge it on, which is 38 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Cold Spring Harbor perspectives in medicine) |
| Journal's citation record | — / 4 | No journal record from OpenAlex — left out of this score |
| Study design | 0 / 12 | No study design recorded — scores zero, not guessed (not stated in the record — scored 0) |
| Strength of evidence | 1 / 5 | Rated “low” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 2 / 5 | 2017 — within 10 year(s) of the newest study here |
| Sample size | 0 / 4 | Participant count not stated — scores zero (not stated in the record — scored 0) |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 0 / 3 | Not stated whether this was studied in people — scores zero (not stated in the record — scored 0) |
| Randomized / blinded | 0 / 2 | No randomization or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | — / 7 | No citation count (not found in OpenAlex) — left out of this score |
| Citations per year | — / 5 | No citation count or no year — left out of this score |
| Impact for its field and year | — / 6 | No field-weighted citation impact (OpenAlex has none yet) — left out of this score |
| Cited by studies here | — / 6 | Not yet checked against this library's citation graph — left out of this score |
| Still being cited | — / 4 | No yearly citation counts — left out of this score |
| Senior author's track record | — / 4 | Senior author's record not available — left out of this score |
| Institution's track record | — / 3 | No institution listed in OpenAlex — left out of this score |
| Multicenter collaboration | — / 3 | Institutions not listed — left out of this score |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 28003277) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Points | 22 / 58 | Scored on 11 of 20 parts. We have no data for the rest, so they are left out: 22 of the 58 points we could judge it on is 38 out of 100. |
| Total | 38 / 100 | — |
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