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Pathological and physiological functions of presenilins
Vetrivel KS, Zhang YW, Xu H, Thinakaran G.. Molecular neurodegeneration, 2006-06-12
Topic: Brain proteins, microglia and lab models
Mutations in PSEN1 and PSEN2 genes account for the majority of cases of early-onset familial Alzheimer disease. Since the first prediction of a genetic link between PSEN1 and PSEN2 with Alzheimer's disease, many research groups from both academia and pharmaceutical industry have sought to unravel how pathogenic mutations in PSEN cause presenile dementia. PSEN genes encode polytopic membrane proteins termed presenilins (PS1 and PS2), which function as the catalytic subunit of gamma-secretase, an intramembrane protease that has a wide spectrum of type I membrane protein substrates.
Key findings
- Since the first prediction of a genetic link between PSEN1 and PSEN2 with Alzheimer's disease, many research groups from both academia and pharmaceutical industry have sought to unravel how pathogenic mutations in PSEN cause presenile dementia.
- PSEN genes encode polytopic membrane proteins termed presenilins (PS1 and PS2), which function as the catalytic subunit of gamma-secretase, an intramembrane protease that has a wide spectrum of type I membrane protein substrates.
- Sequential cleavage of amyloid precursor protein by BACE and gamma-secretase releases highly fibrillogenic beta-amyloid peptides, which accumulate in the brains of aged individuals and patients with Alzheimer's disease.
- Familial Alzheimer's disease-associated presenilin variants are thought to exert their pathogenic function by selectively elevating the levels of highly amyloidogenic Abeta42 peptides.
Why it matters
This review describes how mutations in PSEN1 and PSEN2 cause early-onset familial Alzheimer's disease and how presenilins work as the catalytic subunit of gamma-secretase. It explains disease biology and does not report a treatment or cure.
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Study details
- Evidence strengthLow
How this study scored 44/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported, studied in people and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Molecular neurodegeneration) |
| Journal's citation record | 2 / 4 | Molecular Neurodegeneration: journal h-index 164 (OpenAlex, 2026-10-29) |
| 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 | 1 / 5 | 2006 — older than 20 years, still counted |
| 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) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 5 / 7 | Cited 156 times (OpenAlex, 2026-10-10) |
| Citations per year | 2 / 5 | 7.1 citations a year over 22 year(s) since 2006 |
| Impact for its field and year | 3 / 6 | Cited 7.9× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 2 / 6 | Cited by 4 other studies in this library |
| Still being cited | 1 / 4 | Cited 14 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Gopal Thinakaran: h-index 67 (OpenAlex, whole career) |
| Institution's track record | 2 / 3 | University of Chicago: institution h-index 1,769 (OpenAlex) |
| Multi-centre collaboration | 1 / 3 | OpenAlex lists 2 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 16930451) |
| Free to read | 2 / 2 | Free to read |
| Total | 44 / 100 | — |
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Read the original
- DOI: 10.1186/1750-1326-1-4
- PubMed: 16930451
- Original source →
- Free full text: Molecular Neurodegeneration →
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. Check the citation against the original before you use it.
APA 7th
Vetrivel, K. S., Zhang, Y. W., Xu, H., & Thinakaran, G. (2006). Pathological and physiological functions of presenilins. Molecular neurodegeneration. https://doi.org/10.1186/1750-1326-1-4
Vancouver
Vetrivel KS, Zhang YW, Xu H, Thinakaran G. Pathological and physiological functions of presenilins. Molecular neurodegeneration. 2006. doi:10.1186/1750-1326-1-4. PMID: 16930451.
BibTeX
@article{vetrivel2006-16930451,
author = {Vetrivel, K. S. and Zhang, Y. W. and Xu, H. and Thinakaran, G.},
title = {{Pathological and physiological functions of presenilins}},
journal = {Molecular neurodegeneration},
year = {2006},
doi = {10.1186/1750-1326-1-4},
pmid = {16930451},
url = {https://doi.org/10.1186/1750-1326-1-4}
}
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