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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Pubblicato in:Traffic
Autori principali: Spratley, Samantha J., Hill, Chris H., Viuff, Agnete H., Edgar, James R., Skjødt, Karsten, Deane, Janet E.
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley & Sons A/S 2016
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Original Articles
Accesso online: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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