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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Detalles Bibliográficos
Autores principales: Spratley, Samantha J., Hill, Chris H., Viuff, Agnete H., Edgar, James R., Skjødt, Karsten, Deane, Janet E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons A/S 2016
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4949656/
https://www.ncbi.nlm.nih.gov/pubmed/27126738
http://dx.doi.org/10.1111/tra.12404

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4949656/
https://www.ncbi.nlm.nih.gov/pubmed/27126738
http://dx.doi.org/10.1111/tra.12404

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