Article

Mitochondrial Base Editing of the m.8993T>G Mutation Restores Bioenergetics and Neural Differentiation in Patient iPSCs

2025-10-01

Abstract excerpt

Point mutations in mitochondrial DNA (mtDNA) cause a range of neurometabolic disorders that currently have no curative treatments. The m.8993T>G mutation in the MT-ATP6 gene leads to neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP) when heteroplasmy exceeds approximately 70 percent. We engineered a split DddA-derived cytosine base editor (DdCBE), each half fused to programmable TALE DNA-bindi...

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Literature Corpus work: d25f30c9-85d1-55e5-b60e-a1cf8aa3182a
DOI: 10.20944/preprints202510.0061.v1

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