Author

Sina Mozaffari‐Jovin

Max Planck Institute for Biophysical ChemistryORCID 0000-0003-4410-0460Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Research Focus:cell type annotation· 2 Research Focus:differential expression· 2 Approach:experimental assay· 2 Organism:human· 2 Assay:bulk RNA-seq· 1 Research Focus:protein structure prediction· 1 Assay:proteomics· 1 Assay:scRNA-seq· 1

Frequent Co-Authors

Colin A. JohnsoniD· 2 shared Gerrit HilgeniD· 2 shared Majlinda LakoiD· 2 shared Robin R. AliiD· 2 shared Adriana BuskiniD· 1 shared Alastair DroopiD· 1 shared Alexander J. SmithiD· 1 shared Basudha BasuiD· 1 shared

Activity by Year

2017-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersMolecular Biology

Colin A. JohnsonORCID

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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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GeneticsbioRxivPreprintDec 11, 2017

Human iPSC-derived RPE and retinal organoids reveal impaired alternative splicing of genes involved in pre-mRNA splicing in PRPF31 autosomal dominant retinitis pigmentosa

Adriana Buskin, Lili Zhu, Valeria Chichagova…·Majlinda Lako

The paper generates patient-specific retinal organoids and RPE from RP type 11 patients to show PRPF31 mutations cause retinal-specific splicing defects and structural/functional impairments, which are corrected by in situ gene editing.

5 citations

humanscRNA-seq

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