Author

Helen Prunty

Great Ormond Street HospitalORCID 0000-0002-8889-2423Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:mouse· 2

Frequent Co-Authors

Juan F. Antinao DiaziD· 2 shared Rajvinder KardaiD· 2 shared Simon N. WaddingtoniD· 2 shared Ahad A. RahimiD· 1 shared Alex K. VirasamiiD· 1 shared Anna KarlssoniD· 1 shared Blerida BanushiiD· 1 shared Dany P.B. PerocheauiD· 1 shared

Activity by Year

2018-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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2 shared papersGenetics

Juan F. Antinao DiazORCID

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2 papers

Recent·Most cited

GeneticsMolecular Therapy — Methods & Clinical DevelopmentPeer-reviewedDec 13, 2024

GENE THERAPY PREVENTS HEPATIC MITOCHONDRIAL DYSFUNCTION IN MURINE DEOXYGUANOSINE KINASE DEFICIENCY

Nandaki Keshavan, Miriam Greenwood, Helen Prunty…·Shamima Rahman

This study demonstrates that AAV9-mediated gene therapy prevents liver dysfunction in a mouse model of DGUOK deficiency.

6 citations

mouseexperimental assay

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GeneticsNature CommunicationsPeer-reviewedAug 23, 2018

Gene therapy in argininosuccinic aciduria

Julien Baruteau, Dany P.B. Perocheau, Joanna Hanley…·Simon N. Waddington

This paper demonstrates that gene therapy using AAV8 vector corrects urea cycle and citrulline-NO cycle defects in ASL-deficient mice, reducing neuronal disease and improving behavior.

47 citations

mouseexperimental assay

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