Article
Galactosylceramidase deficiency and pathological abnormalities in cerebral white matter of Krabbe disease.
Neurobiology of disease - 1 Nov 2022
Iacono Diego, Koga Shunsuke, Peng Hui, Manavalan Arulmani, Daiker Jessica, Castanedes-Casey Monica, Martin Nicholas B, Herdt Aimee R, Gelb Michael H, Dickson Dennis W, Lee Chris W
Abstract excerpt
Krabbe Disease (KD) is an autosomal recessive disorder that results from loss-of-function mutations in the GALC gene, which encodes lysosomal enzyme galactosylceramidase (GALC). Functional deficiency of GALC is toxic to myelin-producing cells, which leads to progressive demyelination in both the central and peripheral nervous systems. It is hypothesized that accumulation of psychosine, which can only be degraded...
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