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Article

Translational enhancement by base editing of the Kozak sequence rescues haploinsufficiency.

Nucleic acids research - 14 Oct 2022

Ambrosini Chiara, Destefanis Eliana, Kheir Eyemen, Broso Francesca, Alessandrini Federica, Longhi Sara, Battisti Nicolò, Pesce Isabella, Dassi Erik, Petris Gianluca, Cereseto Anna, Quattrone Alessandro

Abstract excerpt

A variety of single-gene human diseases are caused by haploinsufficiency, a genetic condition by which mutational inactivation of one allele leads to reduced protein levels and functional impairment. Translational enhancement of the spare allele could exert a therapeutic effect. Here we developed BOOST, a novel gene-editing approach to rescue haploinsufficiency loci by the change of specific single nucleotides in...

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Identifiers

PMID: 36165847
DOI: 10.1093/nar/gkac799
PMCID: PMC9561285

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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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