Article

Expression study of Krabbe Disease <i>GALC</i> missense variants – Insights from quantification profiles of residual enzyme activity, secretion and psychosine levels

2024-10-17

Abstract excerpt

Krabbe disease (KD) is an autosomal recessive lysosomal storage disorder caused by loss-of-function mutations in the GALC gene, which encodes for the enzyme galactosylceramidase (GALC). GALC is crucial for myelin metabolism. Functional deficiency of GALC leads to toxic accumulation of psychosine, dysfunction and death of oligodendrocytes, and eventual brain demyelination. To date, 46 clinically-relevant, pathogen...

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Literature Corpus work: e03fa432-ddb5-5bc7-a694-cdf2dce3a5b2
DOI: 10.1101/2024.10.17.618938

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