Gaucher disease (GD), the most common lysosomal storage disease, is caused by
mutations in GBA1 encoding of β-glucocerebrosidase (GCase). Recently it was reported that …

Background Gaucher disease (GD) is a genetic disease caused by mutations in the GBA1
gene which result in reduced enzymatic activity of β-glucocerebrosidase (GCase). This study …

Gaucher disease is caused by mutations of the GBA1 gene, which encodes the lysosomal
anchored gluococerebrosidase (GCase). GBA1 mutations commonly result in protein …

Mutations in GBA1, encoding glucocerebrosidase (GCase), cause Gaucher disease (GD)
and are also genetic risks in developing Parkinson's disease (PD). Currently, the approved …

Progranulin (PGRN), encoded by the GRN gene in humans, is a secreted growth factor
implicated in a multitude of processes ranging from regulation of inflammation to wound …

Loss-of-function heterozygous mutations in GRN, the gene encoding progranulin (PGRN),
were identified in patients with frontotemporal lobar degeneration (FTLD) almost two …

GRN mutations cause frontotemporal dementia (GRN-FTD) due to deficiency in progranulin
(PGRN), a lysosomal and secreted protein with unclear function. Here, we found that Grn …

Abstract Background Gaucher Disease is caused by mutations of the GBA gene which
encodes the lysosomal enzyme acid beta-glucosidase (GCase). GBA mutations commonly …

Progranulin (PGRN), a widely expressed glycoprotein with pleiotropic function, has been
linked to a host of physiological processes and diverse pathological states. A series of …

Gaucher disease (GD) is characterized by accumulation of glucosylceramide in lysosomes
due to mutations in the GBA1 gene encoding the lysosomal hydrolase β-glucocerebrosidase …