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Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays

medRxiv(2023)10.1101/2023.07.17.23292782Source: DataRank Database

Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays is a research paper published in medRxiv (2023). On theSindex it has a DataRank of 0.

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datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (8 grants)OA: greenTopics (48)IDs (PubMed, OpenAlex)SDGs (1)

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Authors (13)

Albert N. Alvarez,Mengqi Ma ORCID,Shenzhao Lu ORCID,Michael Crawford ORCID,Lauren C. Briere ORCID

Live enrichment

PubMed:37502976 OpenAlex:https://openalex.org/W4385164003

National Institutes of Health

Grant: 5R24OD022005-03

A Comprehensive Human cDNA Library For Functional Gene Replacement in Drosophila

National Institutes of Health

Grant: 3R24OD031447-02S1

A Comprehensive Resource for Manipulating the Drosophila Genome

National Institutes of Health

Grant: 1U01HG007690-01

Center for Integrated Approaches to Undiagnosed Diseases

National Institutes of Health

Grant: 5R35GM142486-05

Exploiting bacterial effector proteins to study human ubiquitin signaling

National Institutes of Health

Grant: 5U54OD030165-03

BCM Center for Precision Medicine Models

National Institutes of Health

Grant: 3UL1TR002369-04S2

Oregon Clinical and Translational Research Institute - The National COVID Cohort Collaborative (N3C)

National Institutes of Health

Grant: 5IK2BX004523-03

Reprogramming T Cells in Rheumatoid Arthritis

National Institutes of Health

Grant: 1P50HD103555-01

Baylor College of Medicine Intellectual and Developmental Disabilities Research Center

greenLicense: cc-by

repositoryhttps://www.medrxiv.org/content/medrxiv/early/2023/07/23/2023.07.17.23292782.full.pdf

publisherhttps://syndication.highwire.org/content/doi/10.1101/2023.07.17.23292782

repositoryhttps://doi.org/10.1101/2023.07.17.23292782

repositoryhttps://pubmed.ncbi.nlm.nih.gov/37502976

Fields of Study

Mitochondrial Function and PathologyUbiquitin and proteasome pathwaysGenetics and Neurodevelopmental Disorders0301 basic medicine03 medical and health sciences0303 health sciences

Keywords

In vivoIn vitroAlleleGeneticsBiologyGeneMedical SciencesQH301-705.5Scienceallelic seriesMutation, Missense610rare diseaseUbiquitin-Activating EnzymesArticleBiomedical InformaticsUBA5Intellectual DisabilityUFMylationMedical SpecialtiesMedicine and Health Sciencesand ImmunityHumansDrosophila Proteinsdevelopmental and epileptic encephalopathyBiology (General)Biological PhenomenaBrain DiseasesMovement DisordersD. melanogasterCell PhenomenaQRLife SciencesGenetics and GenomicsMedical Molecular BiologyMutationMedicineDrosophilaMissenseMedical GeneticsHuman

Sustainable Development Goals

SDG 3: 3. Good health