Brain accumulation of lactosylceramide characterizes GALC deficiency in a zebrafish model of Krabbe disease.

ABSTRACT: Krabbe disease (KD) is an autosomal recessive sphingolipidosis due to mutations of the GALC gene encoding for the lysosomal β-galactosylceramidase (GALC) that removes β-galactose from β-galactosylceramide, β-lactosylceramide (LacCer) and the neurotoxic metabolite β-galactosylsphingosine (psychosine). At present, the accumulation of psychosine is thought to be the main cause of demyelination, neurodegeneration and neuroinflammation that characterize the early infantile KD with a 1.5-2-year median survival. Currently, the standard of care of KD is haematopoietic stem cell transplantation which, however, improves the lifespan of Krabbe patients only when performed before symptoms appear. Thus, a better understanding of the pathogenesis of KD is required for the development of more efficacious

SUBMITTER: Guerra J 

PROVIDER: S-EPMC12493051 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature