Home › Research › Down syndrome and Alzheimer's
Transcriptome and metabolome analysis of crGART, a novel cell model of de novo purine synthesis deficiency: Alterations in CD36 expression and activity
Mazzarino RC, Baresova V, Zikánová M, Duval N, Wilkinson TG, Patterson D, Vacano GN.. PloS one, 2020-06-23
Topic: Brain proteins, microglia and lab models
ABSTRACT In humans, GART [phosphoribosylglycinamide formyltransferase (EC 2.1.2.2) / phosphoribosylglycinamide synthetase (EC 6.3.4.13) / phosphoribosylaminoimidazole synthetase (EC 6.3.3.1)] is a trifunctional protein which catalyzes the second, third, and fifth reactions of the ten step de novo purine synthesis (DNPS) pathway. The second step of DNPS is conversion of phosphoribosylamine (5-PRA) to glycineamide ribonucleotide (GAR). 5-PRA is extremely unstable under physiological conditions and is unlikely to accumulate in the absence of GART activity. Recently, a HeLa cell line null mutant for GART was constructed via CRISPR-Cas9 mutagenesis.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Mazzarino, R. C., Baresova, V., Zikánová, M., Duval, N., Wilkinson, T. G., Patterson, D., et al. (2020). Transcriptome and metabolome analysis of crGART, a novel cell model of de novo purine synthesis deficiency: Alterations in CD36 expression and activity. PloS one. https://doi.org/10.1101/2020.06.23.167924
Vancouver
Mazzarino RC, Baresova V, Zikánová M, Duval N, Wilkinson TG, Patterson D, et al. Transcriptome and metabolome analysis of crGART, a novel cell model of de novo purine synthesis deficiency: Alterations in CD36 expression and activity. PloS one. 2020. doi:10.1101/2020.06.23.167924.
BibTeX
@article{mazzarino2020-d179f205,
author = {Mazzarino, R. C. and Baresova, V. and Zikánová, M. and Duval, N. and Wilkinson, T. G. and Patterson, D. and Vacano, G. N.},
title = {{Transcriptome and metabolome analysis of crGART, a novel cell model of de novo purine synthesis deficiency: Alterations in CD36 expression and activity}},
journal = {PloS one},
year = {2020},
doi = {10.1101/2020.06.23.167924},
url = {https://doi.org/10.1101/2020.06.23.167924}
}
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 names 7 authors; APA and Vancouver show the first six, BibTeX and the downloads carry all of them. Check the citation against the original before you use it.
Key findings
- The second step of DNPS is conversion of phosphoribosylamine (5-PRA) to glycineamide ribonucleotide (GAR). 5-PRA is extremely unstable under physiological conditions and is unlikely to accumulate in the absence of GART activity.
- Recently, a HeLa cell line null mutant for GART was constructed via CRISPR-Cas9 mutagenesis.
- This cell line, crGART, is an important cellular model of DNPS inactivation that does not accumulate DNPS pathway intermediates.
- In the current study, we characterized the crGART versus HeLa transcriptomes in purine-supplemented and purine-depleted growth conditions.
Why it matters
This study characterized a HeLa cell model of de novo purine synthesis deficiency caused by loss of GART. It is basic cell biology with no direct testing of any treatment, cure or prevention for Alzheimer's disease.
Study details
- Evidence strengthLow
How this study scored 29/100
Published in a peer-reviewed journal. 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 journal's citation record and impact for its field and year, so those were left out: it earned 26 of the 90 points we could judge it on, which is 29 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (PloS one) |
| 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 | 2 / 5 | 2020 — 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 | 1 / 7 | Cited 2 times (OpenAlex, 2026-10-10) |
| Citations per year | 0 / 5 | 0.2 citations a year over 8 year(s) since 2020 |
| 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 Guido N. Vacano: h-index 10 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | Charles University: institution h-index 721 (OpenAlex) |
| Multicenter collaboration | 1 / 3 | OpenAlex lists 3 institution(s) in 2 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 34283828) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Points | 26 / 90 | Scored on 18 of 20 parts. We have no data for the rest, so they are left out: 26 of the 90 points we could judge it on is 29 out of 100. |
| Total | 29 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.1101/2020.06.23.167924
- 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).
Related
Studies in the library that share something with this one. The line above each title says what.
Studies this one cites
Referenced by this study and also in the alzhub library, so you can read them here.
Related studies in Down syndrome and Alzheimer's
Also tagged “down”
527 studies in the library carry the topic tag “down”; these are this study's neighbours in a fixed, alphabetical-by-hash tour of them, not the closest in content. All 527 tagged studies.