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Chr21 protein-protein interactions: enrichment in products involved in intellectual disabilities, autism and Late Onset Alzheimer Disease
Viard J, Loe-Mie Y, Daudin R, Khelfaoui M, Plancon C, Boland A, Tejedor F, Huganir RL et al.. bioRxiv, 2019-12-12
Topic: Brain proteins, microglia and lab models
ABSTRACT Intellectual disability (ID) found in Down syndrome (DS), which is characterized by an extra copy of 234 genes on Chr21 is poorly understood. We first used two DS mouse models that either display an extra copy of the Dyrk1A gene or of the mouse Chr16 syntenic region. Exome sequencing of transcripts deregulated in embryonic hippocampus uncovers enrichment in genes involved in chromatin and synapse respectively.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Viard, J., Loe-Mie, Y., Daudin, R., Khelfaoui, M., Plancon, C., Boland, A., et al. (2019). Chr21 protein-protein interactions: enrichment in products involved in intellectual disabilities, autism and Late Onset Alzheimer Disease. bioRxiv. https://doi.org/10.1101/2019.12.11.872606
Vancouver
Viard J, Loe-Mie Y, Daudin R, Khelfaoui M, Plancon C, Boland A, et al. Chr21 protein-protein interactions: enrichment in products involved in intellectual disabilities, autism and Late Onset Alzheimer Disease. bioRxiv. 2019. doi:10.1101/2019.12.11.872606.
BibTeX
@article{viard2019-021316a1,
author = {Viard, J. and Loe-Mie, Y. and Daudin, R. and Khelfaoui, M. and Plancon, C. and Boland, A. and Tejedor, F. and Huganir, R. L. and others},
title = {{Chr21 protein-protein interactions: enrichment in products involved in intellectual disabilities, autism and Late Onset Alzheimer Disease}},
journal = {bioRxiv},
year = {2019},
doi = {10.1101/2019.12.11.872606},
url = {https://doi.org/10.1101/2019.12.11.872606}
}
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Key findings
- We first used two DS mouse models that either display an extra copy of the Dyrk1A gene or of the mouse Chr16 syntenic region.
- Exome sequencing of transcripts deregulated in embryonic hippocampus uncovers enrichment in genes involved in chromatin and synapse respectively.
- Using large-scale yeast two-hybrid screen (154 distinct screens) of human brain library containing at least 10 7 independent fragments, we identified 3,636 novel protein-protein interactions with an enrichment of direct interactors of both Chromosome 21(Hsa21) baits and rebounds in ID-related genes.
- Using proximity ligation assays, we identified that Hsa21-encoded proteins are located at the dendritic spine postsynaptic density in a protein network located at the dendritic spine post synapse.
Why it matters
Using Down syndrome mouse models and a large yeast two-hybrid screen, this study identified many new protein-protein interactions involving chromosome 21 proteins. It is basic molecular research and does not test any treatment, cure or prevention for Alzheimer's disease.
Study details
- Evidence strengthLow
How this study scored 16/100
Preprint — not yet peer-reviewed. It scored 18 on the same rubric, but non-peer-reviewed sources are capped at 16, so it shows as 16. 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 impact for its field and year, so that was left out: it earned 17 of the 94 points we could judge it on, which is 18 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 2 / 10 | Tier 4 — not a peer-reviewed journal (bioRxiv) |
| Journal's citation record | 0 / 4 | Not a journal article, so the journal's record does not count |
| 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 | 4 / 10 | Preprint — not yet peer-reviewed. Hosted on a preprint server. |
| How recent | 2 / 5 | 2019 — 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 | 0 / 7 | Cited 0 times (OpenAlex, 2026-10-10) |
| Citations per year | 0 / 5 | 0.0 citations a year over 9 year(s) since 2019 |
| 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 | 0 / 6 | No other study in this library cites it |
| Still being cited | 0 / 4 | Cited 0 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 1 / 4 | Last-listed author Aude-Marie Lepagnol-Bestel: h-index 14 (OpenAlex, whole career) |
| Institution's track record | 3 / 3 | Centre National de la Recherche Scientifique: institution h-index 2,511 (OpenAlex) |
| Multicenter collaboration | 3 / 3 | OpenAlex lists 22 institution(s) in 6 countries |
| Indexed in PubMed | 1 / 2 | Not in PubMed, but has a DOI |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Points | 17 / 94 | Scored on 19 of 20 parts. We have no data for the rest, so they are left out: 17 of the 94 points we could judge it on is 18 out of 100. |
| Total | 18 / 100 | Capped to 16 because this is not a peer-reviewed article. |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.1101/2019.12.11.872606
- Original source →
- Free full text: bioRxiv (Cold Spring Harbor Laboratory) →
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
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