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Modeling vanishing white matter disease with patient‐derived induced pluripotent stem cells reveals astrocytic dysfunction

5 Feb 2019

Abstract excerpt

AIMS: Vanishing white matter disease (VWM) is an inherited leukoencephalopathy in children attributed to mutations in EIF2B1-5, encoding five subunits of eukaryotic translation initiation factor 2B (eIF2B). Although the defects are in the housekeeping genes, glial cells are selectively involved in VWM. Several studies have suggested that astrocytes are central in the pathogenesis of VWM. However, the exact...

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PMID: 30720246
DOI: 10.1111/cns.13107

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