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Article

In vivo base editing of a pathogenic Eif2b5 variant improves vanishing white matter phenotypes in mice.

Molecular therapy : the journal of the American Society of Gene Therapy - 1 May 2024

Böck Desirée, Revers Ilma M, Bomhof Anastasia S J, Hillen Anne E J, Boeijink Claire, Kissling Lucas, Egli Sabina, Moreno-Mateos Miguel A, van der Knaap Marjo S, van Til Niek P, Schwank Gerald

Abstract excerpt

Vanishing white matter (VWM) is a fatal leukodystrophy caused by recessive mutations in subunits of the eukaryotic translation initiation factor 2B. Currently, there are no effective therapies for VWM. Here, we assessed the potential of adenine base editing to correct human pathogenic VWM variants in mouse models. Using adeno-associated viral vectors, we delivered intein-split adenine base editors into the...

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Identifiers

PMID: 38454603
DOI: 10.1016/j.ymthe.2024.03.009
PMCID: PMC11081866

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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