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PSMC5 insufficiency and P320R mutation impair proteasome function

Human Molecular Genetics(2024)10.1093/hmg/ddae085Source: DataRank Database

PSMC5 insufficiency and P320R mutation impair proteasome function is a research paper published in Human Molecular Genetics (2024). On theSindex it has a DataRank of 0. It has been cited 4 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access4 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (7 grants)Impact (FWCI 0.65)OA: hybridTopics (48)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 (13)

Jenny Carmichael,G. Collins ORCID,Daniela D’Agostino ORCID,Mathieu Lessard,Helen V. Firth ORCID

Live enrichment

PubMed:38776958 PMC:PMC11336065 OpenAlex:https://openalex.org/W4398193136

Wellcome Trust

Grant: WT098051

NIGMS NIH HHS

Grant: R01 GM051923

National Institute for Health Research (NIHR)

Grant: NIHR203312

Wellcome Trust

Grant: 098051

Wellcome Trust Sanger Institute - generic account for deposition of all core- funded research papers

National Institutes of Health

Grant: 3R01GM051923-14S1

Molecular Chaperones and Protein Degradation

Wellcome Trust

FWCI

0.65

Citation Percentile

0.7%

Citation Trend

2025

hybridLicense: cc-by

journalhttps://academic.oup.com/hmg/advance-article-pdf/doi/10.1093/hmg/ddae085/57828347/ddae085.pdf

publisherhttps://academic.oup.com/hmg/advance-article-pdf/doi/10.1093/hmg/ddae085/57828347/ddae085.pdf

journalhttps://doi.org/10.1093/hmg/ddae085

repositoryhttps://pubmed.ncbi.nlm.nih.gov/38776958

repositoryhttps://orca.cardiff.ac.uk/id/eprint/171440/1/FRY%20ANDREW%20-%20PSMC5%20insufficiency%20and%20P320R%20mutation%20impair.pdf

Fields of Study

Ubiquitin and proteasome pathwaysGenetics and Neurodevelopmental DisordersAutophagy in Disease and Therapy0303 health sciences03 medical and health sciencesProteasome Endopeptidase ComplexHumansMutationNeurodevelopmental DisordersApoptosisMaleFemaleUbiquitinHEK293 Cells

MeSH Terms

FemaleHumansMaleMutationApoptosisUbiquitinProteasome Endopeptidase ComplexHEK293 CellsNeurodevelopmental Disorders

Keywords

ProteasomeNonsense mutationMutationUbiquitinBiologyNonsense-mediated decayGeneticsFunction (biology)NonsenseCell biologyGeneMissense mutationRNAProtein degradationPSMC5Developmental DelayNeurodevelopmental DisorderMaleProteasome Endopeptidase ComplexApoptosisHEK293 CellsNeurodevelopmental DisordersHumansOriginal ArticleFemale

Sustainable Development Goals

SDG 0: Good health and well-being

PSMC5 insufficiency and P320R mutation impair proteasome function

FAIR Checklist

Authors (13)

Funding (7 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)