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Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17
Hong M, Zhukareva V, Vogelsberg-Ragaglia V, Wszolek Z, Reed L, Miller BI, Geschwind DH, Bird TD et al.. Science (New York, N.Y.), 1998-12-01
Topic: Brain proteins, microglia and lab models
Tau proteins aggregate as cytoplasmic inclusions in a number of neurodegenerative diseases, including Alzheimer's disease and hereditary frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). Over 10 exonic and intronic mutations in the tau gene have been identified in about 20 FTDP-17 families. Analyses of soluble and insoluble tau proteins from brains of FTDP-17 patients indicated that different pathogenic mutations differentially altered distinct biochemical properties and stoichiometry of brain tau isoforms. Functional assays of recombinant tau proteins with different FTDP-17 missense mutations implicated all but one of these mutations in disease pathogenesis by reducing the ability of tau to bind microtubules and promote microtubule assembly.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Hong, M., Zhukareva, V., Vogelsberg-Ragaglia, V., Wszolek, Z., Reed, L., Miller, B. I., et al. (1998). Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17. Science (New York, N.Y.). https://doi.org/10.1126/science.282.5395.1914
Vancouver
Hong M, Zhukareva V, Vogelsberg-Ragaglia V, Wszolek Z, Reed L, Miller BI, et al. Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17. Science (New York, N.Y.). 1998. doi:10.1126/science.282.5395.1914. PMID: 9836646.
BibTeX
@article{hong1998-9836646,
author = {Hong, M. and Zhukareva, V. and Vogelsberg-Ragaglia, V. and Wszolek, Z. and Reed, L. and Miller, B. I. and Geschwind, D. H. and Bird, T. D. and others},
title = {{Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17}},
journal = {Science (New York, N.Y.)},
year = {1998},
doi = {10.1126/science.282.5395.1914},
pmid = {9836646},
url = {https://doi.org/10.1126/science.282.5395.1914}
}
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. The record's author list ends in “et al.”, so not every author is named. Check the citation against the original before you use it.
Key findings
- Analyses of soluble and insoluble tau proteins from brains of FTDP-17 patients indicated that different pathogenic mutations differentially altered distinct biochemical properties and stoichiometry of brain tau isoforms.
Why it matters
In brain tissue from people with inherited frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), different tau gene mutations changed tau's forms in different, mutation-specific ways. In lab tests on engineered tau protein, all but one of the mutations studied weakened tau's ability to bind and build microtubules, the cell's internal support tracks, which implicates this loss of function in the disease. This is laboratory and post-mortem work on a rare inherited condition. It does not test a treatment and does not directly describe typical Alzheimer's disease.
Study details
- Participants17
- Evidence strengthLow
How this study scored 59/100
Published in a top-tier journal. Scored zero for study design, effect reported and randomised / blinded because the record does not state it. We have no data on senior author's track record, so that was left out: it earned 57 of the 96 points we could judge it on, which is 59 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 10 / 10 | Tier 1 — top-tier general journal (Science (New York, N.Y.)) |
| Journal's citation record | 4 / 4 | Science: journal h-index 1,754 (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 | 1998 — older than 20 years, still counted |
| Sample size | 1 / 4 | 17 participants |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 3 / 3 | Studied in people (participant count stated) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 7 / 7 | Cited 1,010 times (OpenAlex, 2026-10-10) |
| Citations per year | 4 / 5 | 33.7 citations a year over 30 year(s) since 1998 |
| Impact for its field and year | 5 / 6 | Cited 38.5× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 4 / 6 | Cited by 30 other studies in this library |
| Still being cited | 3 / 4 | Cited 86 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | — / 4 | Senior author's record not available — left out of this score |
| Institution's track record | 2 / 3 | University of Pennsylvania: institution h-index 1,859 (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 9836646) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Points | 57 / 96 | Scored on 19 of 20 parts. We have no data for the rest, so they are left out: 57 of the 96 points we could judge it on is 59 out of 100. |
| Total | 59 / 100 | — |
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