Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants

Krabbe disease is a severe, fatal neurodegenerative disorder caused by defects in the lysosomal enzyme galactocerebrosidase (GALC). The correct targeting of GALC to the lysosome is essential for the degradation of glycosphingolipids including the primary lipid component of myelin. Over 100 different...

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Detalhes bibliográficos
Publicado no:Traffic
Main Authors: Spratley, Samantha J., Hill, Chris H., Viuff, Agnete H., Edgar, James R., Skjødt, Karsten, Deane, Janet E.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons A/S 2016
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4949656/
https://ncbi.nlm.nih.gov/pubmed/27126738
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/tra.12404
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