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Analysis of Enzyme Activity and Cellular Function for the N80S and S480F Asparagine Synthetase Variants Expressed in a Child with Asparagine Synthetase Deficiency

International Journal of Molecular Sciences(2022)10.3390/ijms24010559Source: DataRank Database

Analysis of Enzyme Activity and Cellular Function for the N80S and S480F Asparagine Synthetase Variants Expressed in a Child with Asparagine Synthetase Deficiency is a research paper published in International Journal of Molecular Sciences (2022). On theSindex it has a DataRank of 0. It has been cited 4 times.

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Open Access4 citations

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Enrichment:Funding (5 grants)Impact (FWCI 0.47)OA: goldTopics (27)IDs (PubMed, PMC, OpenAlex)Annotations (1)SDGs (1)

FAIR Checklist

Context only (not used in score)

Findable (1/2)

Has DOI

Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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Authors (7)

Sarah Snanoudj ORCID,Anne‐Marie Guerrot ORCID,Catherine Vanhulle ORCID,François Lecoquierre ORCID,Soumeya Bekri ORCID

Live enrichment

PubMed:36613999 PMC:PMC9820069 OpenAlex:https://openalex.org/W4313327429

National Institutes of Health, Institute of Child Health and Human Development

Grant: HD110576

National Institutes of Health, Institute of Child Health and Human Development

Grant: RIN2018

NICHD NIH HHS

Grant: R21 HD100576

European Regional Development Find

European Regional Development Fund

FWCI

0.47

Citation Percentile

0.6%

Citation Trend

2023

2025

goldLicense: cc-by

journalhttps://www.mdpi.com/1422-0067/24/1/559/pdf?version=1672296906

publisherhttps://www.mdpi.com/1422-0067/24/1/559/pdf?version=1672296906

publisherhttps://www.mdpi.com/1422-0067/24/1/559/pdf

journalhttps://doi.org/10.3390/ijms24010559

repositoryhttps://pubmed.ncbi.nlm.nih.gov/36613999

Fields of Study

Amino Acid Enzymes and MetabolismMetabolism and Genetic DisordersCancer, Hypoxia, and Metabolism

MeSH Terms

AsparagineAspartate-Ammonia LigaseAtrophyChildHumansIntellectual DisabilityMicrocephalyNervous System MalformationsSeizuresCarbon-Nitrogen Ligases with Glutamine as Amide-N-Donor

Keywords

Asparagine synthetaseAsparagineEnzymeBiochemistryFunction (biology)BiologyChemistryGeneticsCell proliferationMetabolismEpilepsyAmino AcidBrain MetabolismInborn Error Of Metabolism

Sustainable Development Goals

SDG 0: Good health and well-being

Analysis of Enzyme Activity and Cellular Function for the N80S and S480F Asparagine Synthetase Variants Expressed in a Child with Asparagine Synthetase Deficiency

FAIR Checklist

Authors (7)

Funding (5 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)