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Functional Significance of TDP-43 Mutations in Disease
Buratti E.. Advances in genetics, 2015-08-07
Topic: Brain proteins, microglia and lab models
At present, there are very few therapeutic options for patients affected by amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). However, almost all patients affected by ALS or tau-negative FTD share in their brains the presence of aggregated TDP-43, a nuclear factor that plays an important role in regulating RNA metabolism. For this reason, this protein represents a very promising target to develop novel therapeutic options.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Buratti, E. (2015). Functional Significance of TDP-43 Mutations in Disease. Advances in genetics. https://doi.org/10.1016/bs.adgen.2015.07.001
Vancouver
Buratti E. Functional Significance of TDP-43 Mutations in Disease. Advances in genetics. 2015. doi:10.1016/bs.adgen.2015.07.001. PMID: 26410029.
BibTeX
@article{buratti2015-26410029,
author = {Buratti, E.},
title = {{Functional Significance of TDP-43 Mutations in Disease}},
journal = {Advances in genetics},
year = {2015},
doi = {10.1016/bs.adgen.2015.07.001},
pmid = {26410029},
url = {https://doi.org/10.1016/bs.adgen.2015.07.001}
}
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Key findings
- However, almost all patients affected by ALS or tau-negative FTD share in their brains the presence of aggregated TDP-43, a nuclear factor that plays an important role in regulating RNA metabolism.
- For this reason, this protein represents a very promising target to develop novel therapeutic options.
- Over the years, these options have mostly involved the search for new effectors capable of reducing aberrant aggregation or enhancing its clearance by UPS-dependent protein quality control or autophagy system.
- Targeting eventual mutations in the sequence of this protein might represent a parallel alternative therapeutic option.
Why it matters
This review discusses aggregated TDP-43 as a promising target for developing therapies in ALS and tau-negative frontotemporal dementia, including efforts to reduce aggregation or enhance its clearance. It concerns ALS and FTD and does not provide a treatment, cure or prevention for Alzheimer's disease.
Study details
- Evidence strengthLow
How this study scored 46/100
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, so that was left out: it earned 44 of the 96 points we could judge it on, which is 46 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Advances in genetics) |
| 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 | 1 / 5 | 2015 — within 20 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 | 5 / 7 | Cited 224 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 17.2 citations a year over 13 year(s) since 2015 |
| Impact for its field and year | 6 / 6 | Cited 65.8× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 3 / 6 | Cited by 11 other studies in this library |
| Still being cited | 3 / 4 | Cited 57 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Emanuele Buratti: h-index 72 (OpenAlex, whole career) |
| Institution's track record | 0 / 3 | International Centre for Genetic Engineering and Biotechnology: institution h-index 298 (OpenAlex) |
| Multi-centre collaboration | 0 / 3 | OpenAlex lists 1 institution(s) in 1 country — scores zero (affiliation lists can be incomplete) |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 26410029) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Points | 44 / 96 | Scored on 19 of 20 parts. We have no data for the rest, so they are left out: 44 of the 96 points we could judge it on is 46 out of 100. |
| Total | 46 / 100 | — |
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