Article
Haplotype editing with CRISPR-Cas9 as a therapeutic approach for dominant-negative missense mutations in NEFL.
Molecular therapy : the journal of the American Society of Gene Therapy - 4 Mar 2026
Dua Poorvi H, Simon Bazilco M J, Marley Chiara B E, Feliciano Carissa M, Watry Hannah L, Cowan Quinn T, Steury Dylan, Abraham Abin, Gilbertson Erin N, Ramey Grace D, Capra John A, Conklin Bruce R, Judge Luke M
Abstract excerpt
Inactivation of disease alleles by allele-specific editing is a promising approach to treat dominant-negative genetic disorders, provided the causative gene is haplosufficient. We previously edited a dominant NEFL missense mutation causing Charcot-Marie-Tooth type 2E (CMT2E) with inactivating frameshifts and rescued disease-relevant phenotypes in induced pluripotent stem cell (iPSC)-derived motor neurons....
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