Article

Haplotype editing with CRISPR/Cas9 as a therapeutic approach for dominant-negative missense mutations in <i>NEFL</i>

2024-12-22

Abstract excerpt

<h4>ABSTRACT</h4> Inactivation of disease alleles by allele-specific editing is a promising approach to treat dominant-negative genetic disorders, provided the causative gene is haplo-sufficient. We previously edited a dominant NEFL missense mutation with inactivating frameshifts and rescued disease-relevant phenotypes in induced pluripotent stem cell (iPSC)-derived motor neurons. However, a multitude of differe...

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Literature Corpus work: e3d38858-328e-53b3-8ec8-929717575672
DOI: 10.1101/2024.12.20.629813

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