Lysosomes have a critical role in maintaining normal cellular homeostasis mediated by their
involvement in secretion, plasma membrane repair, cell signaling and energy metabolism …

Gaucher disease, the recessively inherited deficiency of the enzyme glucocerebrosidase
and the most common sphingolipidosis, has both non-neurological and neuronopathic forms …

Gaucher disease is caused by mutations in the glucocerebrosidase gene, which encodes
the lysosomal hydrolase glucosylceramidase. Patients with Gaucher disease and …

Gaucher disease results from the inherited deficiency of the enzyme glucocerebrosidase
(EC 3.2. 1.45). Although> 100 mutations in the gene for human glucocerebrosidase have …

Mutations in the gene encoding the lysosomal enzyme glucocerebrosidase, known to cause
Gaucher disease (GD), are a risk factor for the development of Parkinson disease (PD) and …

Gaucher disease, the most common lysosomal storage disorder, results from the inherited
deficiency of the enzyme glucocerebrosidase. Three clinical types are recognized: type 1 …

Among the many phenotypes associated with Gaucher disease, the inherited deficiency of
glucocerebrosidase, are reports of patients with parkinsonian symptoms. The basis for this …

Gaucher disease, the inherited deficiency of lysosomal glucocerebrosidase, presents with a
wide spectrum of clinical manifestations including neuronopathic and non-neuronopathic …

Background Mutations in the glucocerebrosidase gene (GBA) result in Gaucher disease and
can be associated with a phenotype characterized by adult-onset progressive neurologic …

Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by
mutations in the glucosidase, beta, acid (GBA) gene that encodes the lysosomal enzyme …