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Intrinsic link between PGRN and Gba1 D409V mutation dosage in potentiating Gaucher disease

Human Molecular Genetics(2024)10.1093/hmg/ddae113Source: DataRank Database

Intrinsic link between PGRN and Gba1 D409V mutation dosage in potentiating Gaucher disease 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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Open Access4 citations

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Enrichment:Funding (3 grants)Impact (FWCI 0.96)OA: greenTopics (46)IDs (PubMed, PMC, OpenAlex)Annotations (2)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 (11)

Xiangli Zhao ORCID,Benjamin Liou ORCID,Venette Fannin,Wujuan Zhang ORCID,Kenneth D R Setchell

Live enrichment

PubMed:39101473 PMC:PMC11458007 OpenAlex:https://openalex.org/W4401338702

National Institutes of Health

Grant: R21OD033660

National Institutes of Health

Grant: R01NS103931

NINDS NIH HHS

Grant: R01 NS132504

FWCI

0.96

Citation Percentile

0.8%

Citation Trend

2025

2026

greenLicense: https://academic.oup.com/pages/standard-publication-reuse-rights

repositoryhttps://pmc.ncbi.nlm.nih.gov/articles/PMC11458007/pdf/ddae113.pdf

publisherhttps://academic.oup.com/hmg/article-pdf/33/20/1771/59622708/ddae113.pdf

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/11458007

journalhttps://doi.org/10.1093/hmg/ddae113

Fields of Study

Lysosomal Storage Disorders ResearchCellular transport and secretionParkinson's Disease Mechanisms and TreatmentsAnimalsProgranulinsMiceGaucher DiseaseGlucosylceramidaseMutationDisease Models, AnimalHumansMice, KnockoutGene Dosage

MeSH Terms

ProgranulinsAnimalsDisease Models, AnimalGaucher DiseaseGlucosylceramidaseHumansMutationMice, KnockoutGene DosageMice

Keywords

NeurodegenerationBiologyGliosisAstrogliosisGlucocerebrosidaseNeuronal ceroid lipofuscinosisMicrogliaMutationPathogenesisTranscriptomeInflammationImmunologyDiseasePathologyGeneticsNeuroscienceGeneGene expressionCentral nervous systemMedicineGaucher DiseaseMouse ModelsProgranulin

Sustainable Development Goals

SDG 0: Good health and well-being

Intrinsic link between PGRN and Gba1 D409V mutation dosage in potentiating Gaucher disease

FAIR Checklist

Authors (11)

Funding (3 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)