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Article

AAV9/MFSD8 gene therapy is effective in preclinical models of neuronal ceroid lipofuscinosis type 7 disease.

The Journal of clinical investigation - 1 Mar 2022

Chen Xin, Dong Thomas, Hu Yuhui, Shaffo Frances C, Belur Nandkishore R, Mazzulli Joseph R, Gray Steven J

Abstract excerpt

Neuronal ceroid lipofuscinosis type 7 (CLN7) disease is a lysosomal storage disease caused by mutations in the facilitator superfamily domain containing 8 (MFSD8) gene, which encodes a membrane-bound lysosomal protein, MFSD8. To test the effectiveness and safety of adeno-associated viral (AAV) gene therapy, an in vitro study demonstrated that AAV2/MFSD8 dose dependently rescued lysosomal function in fibroblasts...

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Identifiers

PMID: 35025759
DOI: 10.1172/JCI146286
PMCID: PMC8884910

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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