Articles with "storage disorder" as a keyword



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Biochemical and structural insights into an allelic variant causing the lysosomal storage disorder – aspartylglucosaminuria

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Published in 2018 at "FEBS Letters"

DOI: 10.1002/1873-3468.13190

Abstract: Aspartylglucosaminuria (AGU) is a lysosomal storage disorder caused by defects of the hydrolase glycosylasparaginase (GA). Previously, we showed that a Canadian AGU mutation disrupts an obligatory intramolecular autoprocessing with the enzyme trapped as an inactive… read more here.

Keywords: lysosomal storage; storage disorder; biochemical structural; structural insights ... See more keywords