Most lysosomal proteins are tagged with a carbohydrate modification that allows their recognition and transport to the lysosome. In this issue, Reczek et al. (2007) identify a new pathway for protein sorting to the lysosome. They show that beta-glucocerebrosidase-the lysosomal enzyme defective in patients with Gaucher disease-is delivered to the lysosome through its interaction with the transme...

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Gaucher disease (GD) is the most common lysosomal storage disorder. Deficiency of the lysosomal enzyme glucocerebrosidase results in the intracellular accumulation of undegraded substrates in the spleen, liver and bone marrow. Enzyme replacement therapy (ERT) is a standard approach for type 1 GD. Here, we present an adult patient with hematological disorders due to type 1 GD, who markedly impro...

Gaucher disease is the most prevalent sphingolipid storage disorder in humans caused by a recessively inherited deficiency of the enzyme glucocerebrosidase. More than 100 mutations have been described in the glucocerebrosidase gene causing Gaucher disease. Some of them are complex alleles with several mutations due to recombination events between the gene and its highly homologous pseudogene. T...