Article

Correction of a recurrent pathogenic variant in methylmalonic acidemia using adenine base editing

2026-03-15

Abstract excerpt

Methylmalonic acidemia (MMA) is a recessive genetic disease caused by variants in the MMUT (mitochondrial enzyme methylmalonyl–CoA mutase) gene or by defects in transport or metabolism of MMUT cofactor (5’ deoxyadenosylcobalamin), including variants in the MMAB gene. For the most recurrent pathogenic MMAB variant, c.556C>T (R186W), we identified a corrective editing strategy using adenine base editing. Deployin...

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Literature Corpus work: a2b2e0dc-d02e-52f7-be15-47a8188aa832
DOI: 10.64898/2026.03.12.711365

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