Author

Mark Basche

King's College LondonORCID 0009-0008-9861-6888Unclaimed 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 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Organism:human· 1 Organism:mouse· 1 Research Focus:protein structure prediction· 1 Assay:proteomics· 1

Frequent Co-Authors

Alexander J. SmithiD· 2 shared Robin R. AliiD· 2 shared Ahad A. RahimiD· 1 shared Amna Z. ShahiD· 1 shared Carina HansohniD· 1 shared Colin A. JohnsoniD· 1 shared Elton J. R. VasconcelosiD· 1 shared Gerrit HilgeniD· 1 shared

Activity by Year

2019-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersMolecular Biology

Alexander J. SmithORCID

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2 papers

Recent·Most cited

Molecular BiologybioRxivPreprintApr 16, 2026

Cell-autonomous restoration of splicing homeostasis and RP11 phenotype in patient-derived RPE and retinal organoids by PRPF31.AAV gene therapy

Maria Elia, Valda Pauzuolyte, Μαρία Γεωργίου…·Majlinda Lako

This study demonstrates that AAV-mediated PRPF31 gene therapy restores splicing homeostasis and rescues RP11 phenotypes in patient-derived RPE and retinal organoids.

DOI 10.64898/2026.04.14.718379

humanproteomics

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NeuroscienceHuman Molecular GeneticsPeer-reviewedAug 28, 2019

Neonatal brain-directed gene therapy rescues a mouse model of neurodegenerative CLN6 Batten disease

Sophia-Martha kleine Holthaus, Saúl Herranz-Martín, Giulia Massaro…·Robin R. Ali

This study shows that neonatal brain-directed gene therapy using AAV9-CLN6 significantly improves survival, motor function, and reduces neuropathology in a mouse model of CLN6 Batten disease.

31 citations

mouseexperimental assay

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