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
rAAV2-Mediated Restoration of GALC in Neural Stem Cells from Krabbe Patient-Derived iPSCs
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DOI: 10.3390/ph16040624
Abstract: Krabbe disease is a rare neurodegenerative fatal disease. It is caused by deficiency of the lysosomal enzyme galactocerebrosidase (GALC), which results in progressive accumulation of galactolipid substrates in myelin-forming cells. However, there is still a… read more here.
Keywords: disease; krabbe patient; patient derived; galc ... See more keywords