Neuron-specific ablation of the Krabbe disease gene galactosylceramidase in mice results in neurodegeneration
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DOI: 10.1371/journal.pbio.3001661
Abstract: Krabbe disease is caused by a deficiency of the lysosomal galactosylceramidase (GALC) enzyme, which results in the accumulation of galactosylceramide (GalCer) and psychosine. In Krabbe disease, the brunt of demyelination and neurodegeneration is believed to… read more here.
Keywords: galactosylceramidase; krabbe disease; neuron specific; krabbe ... See more keywords
β-Galactosylceramidase Deficiency Causes Bone Marrow Vascular Defects in an Animal Model of Krabbe Disease
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DOI: 10.3390/ijms21010251
Abstract: Krabbe disease (KD) is an autosomal recessive sphingolipidosis caused by the deficiency of the lysosomal hydrolase β-galactosylceramidase (GALC). Oligodendroglia degeneration and demyelination of the nervous system lead to neurological dysfunctions which are usually lethal by… read more here.
Keywords: disease; galactosylceramidase; krabbe disease; deficiency ... See more keywords