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Adenine base editing corrects point mutation in mitochondrial single-stranded binding protein (SSBP1) to improve mitochondrial function

2023-11-03

Abstract excerpt

Mutations in nuclear genes that regulate the mitochondrial DNA (mtDNA) replication machinery have been linked to mtDNA depletion syndromes. Through whole-genome sequencing, we identified a heterozygous missense mutation (c.272G>A:p.Arg91Gln) in single-stranded binding protein 1 (SSBP1), a crucial protein involved in mtDNA replication. The proband manifested symptoms including sensorineural deafness, congenital cat...

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Literature Corpus work: 361b2979-2dcb-521c-a321-f3d573d85d39
DOI: 10.1101/2023.11.02.23297943

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Adenine base editing corrects point mutation in mitochondrial single-stranded binding protein (<i>SSBP1</i>) to improve mitochondrial function

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