Author

April Destefano

University of Massachusetts Chan Medical School

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Bioengineering· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:mouse· 2 Research Focus:variant calling· 2 Assay:CRISPR screen· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alisha M. GruntmaniD· 2 shared Guangping GaoiD· 2 shared Terence R. FlotteiD· 2 shared Chunwei ZhengiD· 1 shared Dan WangiD· 1 shared Darcy Reil· 1 shared Debora Pires-FerreiraiD· 1 shared Erik J. SontheimeriD· 1 shared

Activity by Year

2025-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersMolecular Biology

Alisha M. GruntmanORCID

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2 papers

Recent·Most cited

A single amino acid variant in the variable region I of AAV capsid confers liver detargeting

Ruxiao Xing, Mengyao Xu, Darcy Reil, April Destefano, Mengtian Cui, Nan Liu, Jialing Liang, Guangchao Xu, Li Luo, Meiyu Xu, Fang Zhang, Phillip W.L. Tai, Yuquan Wei, Alisha M. Gruntman, Terence R. Flotte, , Dan Wang

The paper identifies an amino acid variant in AAV capsid VR-1 that reduces liver targeting, suggesting its potential for minimizing liver toxicity in gene therapy.

PLoS Pathogens · Sep 17, 2025Peer-reviewedMolecular Biology

A Compact Base Editor Rescues AATD-associated Liver and Lung Disease in Mouse Models

Jenny Gao, Nathan Bamidele, Debora Pires-Ferreira, Chunwei Zheng, April Destefano, Haoyang Cheng, Qiushi Tang, Yueying Cao, Jun Xie, Guangping Gao, Alisha M. Gruntman, Erik J. Sontheimer, Terence R. Flotte, Wen Xue

This paper demonstrates that a compact ABE corrects the PiZ mutation in AATD mouse models, reducing liver disease and improving lung function.

Molecular Therapy · Aug 28, 2025Peer-reviewedBioengineering