Article

Human iPSC-based neurodevelopmental models of globoid cell leukodystrophy uncover patient- and cell type-specific disease phenotypes

2020-03-15

Abstract excerpt

<h4>Summary</h4> Globoid Cell Leukodystrophy (GLD, or Krabbe disease) is a rare lysosomal storage disease caused by inherited deficiency of β-galactocerebrosidase (GALC). The build-up of galactosylsphingosine (psychosine) and other undegraded galactosylsphingolipids in the nervous system causes severe demyelination and neurodegeneration. The molecular mechanisms of GLD are poorly elucidated in neural cells and wh...

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Literature Corpus work: 8fc31bc8-6108-5674-b810-d037c6f105ce
DOI: 10.1101/2020.03.13.990176

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