Article

Brainstem development requires galactosylceramidase and is critical for the pathogenesis of Krabbe Disease

2020-03-25

Abstract excerpt

Krabbe disease (KD) is caused by a deficiency of galactosylceramidase (GALC), which induces demyelination and neurodegeneration due to accumulation of cytotoxic psychosine. Hematopoietic stem cell transplantation (HSCT) improves clinical outcomes in KD patients only if delivered pre-symptomatically. We hypothesized that the restricted temporal efficacy of HSCT reflects a requirement for GALC in early brain develop...

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Literature Corpus work: 8cdd4e9d-6698-5c72-b398-cf2364b949db
DOI: 10.1101/2020.03.25.007542

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