Parkinson's disease (PD), an adult neurodegenerative disorder, has been clinically linked
to the lysosomal storage disorder Gaucher disease (GD), but the mechanistic connection is …

Gaucher's disease continues to be a model for applications of molecular medicine to clinical
delineation, diagnosis, and treatment. Analyses of several thousand affected individuals …

Fabry disease (-galactosidase A deficiency) is an X-linked recessive lysosomal storage
disorder. Although the disease presents in childhood and culminates in cardiac, cerebrovascular…

Objective: To compare the efficacy of mannose-terminated glucocerebrosidase prepared
from natural (alglucerase; Ceredase, Genzyme Corp., Cambridge, Massachusetts) and …

Gaucher disease, the most common lysosomal storage disorder, is a heterogeneous multisystem
condition. Patients with non-neuronopathic (type 1) Gaucher disease may suffer from …

Differentiation of human pluripotent stem cells (hPSCs) into organ-specific subtypes offers
an exciting avenue for the study of embryonic development and disease processes, for …

Objective: Heterozygous mutations in the GBA1 gene elevate the risk of Parkinson disease
and dementia with Lewy bodies; both disorders are characterized by misprocessing of α‐…

It is now established that CD1 molecules present lipid antigens to T cells, although it is not
clear how the exchange of lipids between membrane compartments and the CD1 binding …

Emerging genetic and clinical evidence suggests a link between Gaucher disease and the
synucleinopathies Parkinson disease and dementia with Lewy bodies. Here, we provide …

Primary pulmonary alveolar proteinosis (PAP) is a rare syndrome characterized by accumulation
of surfactant in the lungs that is presumed to be mediated by disruption of granulocyte/…