Article

Integrated Stress Response Deregulation underlies Vanishing White Matter and is a target for therapy

2018-11-05

Abstract excerpt

Vanishing white matter (VWM) is a fatal, stress-sensitive leukodystrophy that mainly affects children and is currently without treatment. VWM is caused by recessive mutations in eukaryotic initiation factor 2B (eIF2B) that is crucial for initiation of mRNA translation and its regulation under stress conditions. Mice with bi-allelic missense mutations in eIF2B recapitulate human VWM. VWM pathomechanisms are unclear...

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Literature Corpus work: 218565c1-2862-5256-bf25-f69181e25d62
DOI: 10.1101/460840

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