Evidence map›Paper›PMID 31516833›Full record

ArticleMolecular genetics and metabolism reports2019

The CRISPR-Cas9 crADSL HeLa transcriptome: A first step in establishing a model for ADSL deficiency and SAICAR accumulation.

Randall C Mazzarino, Veronika Baresova, Marie Zikánová, Nathan Duval, Terry G Wilkinson, David Patterson, Guido N Vacano

Open access · goldAbstract read
In one paragraph

Article in Molecular genetics and metabolism reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
0.8field-weighted citation impact, top 29% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

12 citing papers in PubMed, 16 citations in OpenAlex.

  1. Article
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  4. Review
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  7. Review
  8. Human de novo purine biosynthesis.Critical reviews in biochemistry and molecular biology · 2021
    Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 4 institutions in 2 countries.

Randall C MazzarinoKnoebel Institute for Healthy Aging, University of Denver, 2155 E. Wesley Avenue, Denver, CO 80210, USA.
Veronika BaresovaResearch Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Marie ZikánováResearch Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Nathan DuvalKnoebel Institute for Healthy Aging, University of Denver, 2155 E. Wesley Avenue, Denver, CO 80210, USA.
Terry G WilkinsonKnoebel Institute for Healthy Aging, University of Denver, 2155 E. Wesley Avenue, Denver, CO 80210, USA.
David PattersonKnoebel Institute for Healthy Aging, University of Denver, 2155 E. Wesley Avenue, Denver, CO 80210, USA.
Guido N VacanoKnoebel Institute for Healthy Aging, University of Denver, 2155 E. Wesley Avenue, Denver, CO 80210, USA.
University of Denver · USRoosevelt Institute · USCharles University · CZGeneral University Hospital in Prague · CZ

Funding

University of Colorado Cancer Center Support Grant - Lung Cancer Patient-Derived Xenografts with Autologous Human Immune SystemsP30CA046934 · NCI · UNIVERSITY OF COLORADO DENVER · PI James V Degregori · 1988 to 2026
$117.0M
NCI NIH HHS P30 CA046934
6 · The paper itself

Abstract

Adenylosuccinate lyase (ADSL) catalyzes two steps in de novo purine synthesis (DNPS). Mutations in ADSL can result in inborn errors of metabolism characterized by developmental delay and disorder phenotypes, with no effective treatment options. Recently, SAICAR, a metabolic substrate of ADSL, has been found to have alternative roles in the cell, complicating the role of ADSL. crADSL, a CRISPR KO of ADSL in HeLa cells, was constructed to investigate DNPS and ADSL in a human cell line. Here we employ this cell line in an RNA-seq analysis to initially investigate the effect of DNPS and ADSL deficiency on the transcriptome as a first step in establishing a cellular model of ADSL deficiency. We report transcriptome changes in genes relevant to development, vascular development, muscle, and cancer biology, which provide interesting avenues for future research.

Indexed as

adenosine monophosphate, (AMP)Adenylosuccinate lyaseadenylosuccinate lyase, (ADSL)aminoimidazole carboxamide ribonucleotide, (AICAR)de novo purine synthesis, (DNPS)differentially expressed gene, (DEG)false discovery rate, (FDR)fetal calf macroserum, (FCM)fragments per kilobase of exon per million reads mapped, (FPKM)gene ontology, (GO)guanosine monophosphate, (GMP)minus adenine crADSL to minus adenine WT comparison, (MM)phosphoribosylaminoimidazolesuccinocarboxamide, (SAICAR)phosphoribosyl pyrophosphate, (PRPP)plus adenine crADSL to plus adenine WT comparison, (PP)Purine synthesisRNA-seqsuccinyladenosine monophosphate, (SAMP)Transcriptome

Identifiers

PMID31516833
PMCPMC6731210
OpenAlexW2972208562

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.