Combined Targeted and Untargeted Profiling of HeLa Cells Deficient in Purine De Novo Synthesis
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15640%2F22%3A73612834" target="_blank" >RIV/61989592:15640/22:73612834 - isvavai.cz</a>
Alternative codes found
RIV/00098892:_____/22:10157204 RIV/61989592:15110/22:73612834 RIV/00216208:11110/22:10443792
Result on the web
<a href="https://www.mdpi.com/2218-1989/12/3/241/htm" target="_blank" >https://www.mdpi.com/2218-1989/12/3/241/htm</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.3390/metabo12030241" target="_blank" >10.3390/metabo12030241</a>
Alternative languages
Result language
angličtina
Original language name
Combined Targeted and Untargeted Profiling of HeLa Cells Deficient in Purine De Novo Synthesis
Original language description
Three genetically determined enzyme defects of purine de novo synthesis (PDNS) have been identified so far in humans: adenylosuccinate lyase (ADSL) deficiency, 5-amino-4-imidazole carboxamide-ribosiduria (AICA-ribosiduria), and deficiency in bifunctional enzyme phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase (PAICS). Clinical signs of these defects are mainly neurological, such as seizures, psychomotor retardation, epilepsy, autistic features, etc. This work aims to describe the metabolic changes of CRISPR-Cas9 genome-edited HeLa cells deficient in the individual steps of PDNS to better understand known and potential defects of the pathway in humans.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
10608 - Biochemistry and molecular biology
Result continuities
Project
<a href="/en/project/NU20-08-00367" target="_blank" >NU20-08-00367: New biomarkers of inherited metabolic diseases</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2022
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Metabolites
ISSN
2218-1989
e-ISSN
—
Volume of the periodical
12
Issue of the periodical within the volume
3
Country of publishing house
CH - SWITZERLAND
Number of pages
17
Pages from-to
241
UT code for WoS article
000774096000001
EID of the result in the Scopus database
2-s2.0-85127552073