Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants

Krabbe disease is a devastating neurodegenerative disorder caused by defects in the lysosomal hydrolase galactocerebrosidase (GALC). Over 100 different mutations have been identified in the GALC gene and are located throughout the protein. Here, we identify a number of distinct molecular mechanisms...

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Veröffentlicht in:	Traffic (Copenhagen, Denmark) Denmark), 2016-08, Vol.17 (8), p.908-922
Hauptverfasser:	Spratley, Samantha J., Hill, Chris H., Viuff, Agnete H., Edgar, James R., Skjødt, Karsten, Deane, Janet E.
Format:	Artikel
Sprache:	eng
Schlagworte:	Cell Line Enzymes galactocerebrosidase Galactosylceramidase - chemistry Galactosylceramidase - genetics Galactosylceramidase - metabolism globoid cell leukodystrophy glycosphingolipid Humans Krabbe disease Leukodystrophy, Globoid Cell - genetics Leukodystrophy, Globoid Cell - metabolism lysosomal storage disease Lysosomes - genetics Lysosomes - metabolism Mutation - genetics Original Pathogenesis Protein Processing, Post-Translational
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