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Article

Brainstem development requires galactosylceramidase and is critical for pathogenesis in a model of Krabbe disease.

Nature communications - 23 Oct 2020

Weinstock Nadav I, Kreher Conlan, Favret Jacob, Nguyen Duc, Bongarzone Ernesto R, Wrabetz Lawrence, Feltri M Laura, Shin Daesung

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. Here, we hypothesize that the restricted temporal efficacy of HSCT reflects a requirement for GALC in early brain...

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Identifiers

PMID: 33097716
DOI: 10.1038/s41467-020-19179-w
PMCID: PMC7584660

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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