Article
Impaired trafficking of mutants of lysosomal glucocerebrosidase in Gaucher's disease.
The international journal of biochemistry & cell biology - 1 Nov 2005
Schmitz Martina, Alfalah Marwan, Aerts Johannes M F G, Naim Hassan Y, Zimmer Klaus-Peter
Abstract excerpt
Gaucher's disease is the most inherited lysosomal storage disorder. Except for a few cases, the broad phenotypic heterogeneity of Gaucher's disease can be neither predicted from defined mutations nor from differences in residual enzyme activity. Here, we analyse the intracellular trafficking of glucocerebrosidase as an underlying mechanism for the expression of the clinical phenotype. Biosynthetic labeling...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.