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Presenilin mutations and their impact on neuronal differentiation in Alzheimer's disease
Mercedes A Hernandez-Sapiens, Edwin E Reza-Zaldívar, Ana L Márquez-Aguirre, Ulises Gómez-Pinedo, Jorge Matias-Guiu, Ricardo R Cevallos, Juan C Mateos-Díaz, Víctor J Sánchez-González et al.. Neural regeneration research, 2022-01
Topic: Disease mechanisms in lab and animal studies
The presenilin genes (PSEN1 and PSEN2) are mainly responsible for causing early-onset familial Alzheimer's disease, harboring ~300 causative mutations, and representing ~90% of all mutations associated with a very aggressive disease form. Presenilin 1 is the catalytic core of the γ-secretase complex that conducts the intramembranous proteolytic excision of multiple transmembrane proteins like the amyloid precursor protein, Notch-1, N- and E-cadherin, LRP, Syndecan, Delta, Jagged, CD44, ErbB4, and Nectin1a. Presenilin 1 plays an essential role in neural progenitor maintenance, neurogenesis, neurite outgrowth, synaptic function, neuronal function, myelination, and plasticity. Therefore, an imbalance caused by mutations in presenilin 1/γ-secretase might cause aberrant signaling, synaptic dysfunction, memory impairment, and increased Aβ42/Aβ40 ratio, contributing to neurodegeneration during the initial stages of Alzheimer's disease pathogenesis. This review focuses on the neuronal differentiation dysregulation mediated by PSEN1 mutations in Alzheimer's disease. Furthermore, we emphasize the importance of Alzheimer's disease-induced pluripotent stem cells models in analyzing PSEN1 mutations implication over the early stages of the Alzheimer's disease pathogenesis throughout neuronal differentiation impairment.
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APA 7th
Hernandez-Sapiens, M. A., Reza-Zaldívar, E. E., Márquez-Aguirre, A. L., Gómez-Pinedo, U., Matias-Guiu, J., Cevallos, R. R., et al. (2022). Presenilin mutations and their impact on neuronal differentiation in Alzheimer's disease. Neural regeneration research. https://doi.org/10.4103/1673-5374.313016
Vancouver
Hernandez-Sapiens MA, Reza-Zaldívar EE, Márquez-Aguirre AL, Gómez-Pinedo U, Matias-Guiu J, Cevallos RR, et al. Presenilin mutations and their impact on neuronal differentiation in Alzheimer's disease. Neural regeneration research. 2022. doi:10.4103/1673-5374.313016. PMID: 34100423.
BibTeX
@article{hernandezsapiens2022-34100423,
author = {Hernandez-Sapiens, Mercedes A and Reza-Zaldívar, Edwin E and Márquez-Aguirre, Ana L and Gómez-Pinedo, Ulises and Matias-Guiu, Jorge and Cevallos, Ricardo R and Mateos-Díaz, Juan C and Sánchez-González, Víctor J and others},
title = {{Presenilin mutations and their impact on neuronal differentiation in Alzheimer's disease}},
journal = {Neural regeneration research},
year = {2022},
doi = {10.4103/1673-5374.313016},
pmid = {34100423},
url = {https://doi.org/10.4103/1673-5374.313016}
}
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Key findings
- The presenilin genes (PSEN1 and PSEN2) are mainly responsible for causing early-onset familial Alzheimer's disease, harboring ~300 causative mutations, and representing ~90% of all mutations associated with a very aggressive disease form.
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Study details
- Evidence strengthLow
How this study scored 41/100
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. 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, multi-centre collaboration and free to read, so those were left out: it earned 23 of the 56 points we could judge it on, which is 41 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Neural regeneration research) |
| 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 | 3 / 5 | 2022 — within 6 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) |
| Randomised / blinded | 0 / 2 | No randomisation 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 |
| Multi-centre collaboration | — / 3 | Institutions not listed — left out of this score |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 34100423) |
| Free to read | — / 2 | Access not recorded — left out of this score |
| Points | 23 / 56 | Scored on 10 of 20 parts. We have no data for the rest, so they are left out: 23 of the 56 points we could judge it on is 41 out of 100. |
| Total | 41 / 100 | — |
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