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

Autor: Böck D; Institute of Pharmacology and Toxicology, University of Zurich, 8057 Zurich, Switzerland., Revers IM; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam and Amsterdam Neuroscience, Cellular & Molecular Mechanisms, 1105AZ Amsterdam, the Netherlands., Bomhof ASJ; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam and Amsterdam Neuroscience, Cellular & Molecular Mechanisms, 1105AZ Amsterdam, the Netherlands., Hillen AEJ; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam and Amsterdam Neuroscience, Cellular & Molecular Mechanisms, 1105AZ Amsterdam, the Netherlands., Boeijink C; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam and Amsterdam Neuroscience, Cellular & Molecular Mechanisms, 1105AZ Amsterdam, the Netherlands., Kissling L; Institute of Pharmacology and Toxicology, University of Zurich, 8057 Zurich, Switzerland., Egli S; Institute of Pharmacology and Toxicology, University of Zurich, 8057 Zurich, Switzerland., Moreno-Mateos MA; Andalusian Center for Developmental Biology (CABD), Pablo de Olavide University/CSIC/Junta de Andalucía, 41013 Seville, Spain; Department of Molecular Biology and Biochemical Engineering, Pablo de Olavide University, 41013 Seville, Spain., van der Knaap MS; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam and Amsterdam Neuroscience, Cellular & Molecular Mechanisms, 1105AZ Amsterdam, the Netherlands; Department of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, 1081HV Amsterdam, the Netherlands., van Til NP; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam and Amsterdam Neuroscience, Cellular & Molecular Mechanisms, 1105AZ Amsterdam, the Netherlands; Department of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, 1081HV Amsterdam, the Netherlands. Electronic address: n.p.vantil@amsterdamumc.nl., Schwank G; Institute of Pharmacology and Toxicology, University of Zurich, 8057 Zurich, Switzerland. Electronic address: schwank@pharma.uzh.ch.

Publikováno v: Molecular therapy : the journal of the American Society of Gene Therapy [Mol Ther] 2024 May 01; Vol. 32 (5), pp. 1328-1343. Date of Electronic Publication: 2024 Mar 07.