Ontology highlight
ABSTRACT:
SUBMITTER: Pande S
PROVIDER: S-EPMC6119092 | biostudies-literature | 2018 Aug
REPOSITORIES: biostudies-literature
FEBS letters 20180723 15
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 precursor. Here, we report biochemical and structural characterizations of a model enzyme corresponding to a Finnish AGU allele, the T234I variant. Unlike the Canadian counterpart, the Finnish variant is capable of a slow autoprocessi ...[more]