Parkinson's disease is a progressive neurodegenerative disease characterized by the loss
of dopaminergic neurons of the nigrostriatal pathway and the formation of neuronal …

Lysosomal storage diseases are usually considered to be pathologies in which the passive
deposition of unwanted materials leads to functional changes in lysosomes. Lysosomal …

Background Fabry disease, an inherited lysosomal storage disorder, causes multi-organ
pathology resulting in substantial morbidity and a reduced life expectancy. Although Fabry …

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations of the
GLA gene that result in a deficiency of the enzymatic activity of α-galactosidase A and …

Background Fabry disease is caused by α-galactosidase A deficiency. Substrates of this
lysosomal enzyme accumulate, resulting in cellular dysfunction. Patients experience …

Macrophage activation in response to stimulation of Toll‐like receptor 4 (TLR4) provides a
paradigm for investigating energy metabolism that regulates the inflammatory response …

The hypertrophic cardiomyopathy phenotype encompasses a heterogeneous spectrum of
genetic and acquired diseases characterized by the presence of left ventricular hypertrophy …

Podocyte injury is an early feature of Fabry nephropathy, but the molecular mechanisms of
podocyte injury are poorly understood. Lyso-Gb3 accumulates in serum in Fabry disease …

Anderson–Fabry disease (AFD) is a rare disease with an incidenceof approximately 1:
117,000 male births. Lysosomal accumulation of globotriaosylceramide (Gb3) is the element …

Lysosomal storage diseases (LSDs) include approximately 70 distinct disorders that
collectively account for 14% of all inherited metabolic diseases. LSDs are caused by …