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 …

… gene array analysis in our Gaucher disease mouse model and other … S, YKL-40 and
progranulin in Gaucher disease patients. We assessed their biomarker potential in Gaucher disease …

… Progranulin (PGRN) is a key regulator of lysosomes, and its deficiency has been linked to
various lysosomal storage diseases (LSDs), including Gaucher disease (GD), one of the most …

… Type 2 (or acute infantile neuropathic Gaucher's disease) begins within 6 months of birth
and presents with serious convulsions, hypertonia, mental retardation and apnea. Children with …

… We recently reported that progranulin (PGRN) is a novel regulator of glucocerebrosidase
and its deficiency associates with Gaucher Diseases (GD) (Jian et al., 2016a; Jian et al., 2018). …

… Progranulin levels are low in patients with Gaucher disease and associated with clinical
disease severity and elevated liver stiffness. Early start of enzyme replacement therapy may …

… These findings have implications in Gaucher disease (GD), an autosomal recessively inherited
and most prevalent lysosomal storage disease, and demonstrate the myriad of important …

… Gaucher disease (GD), an autosomal recessive disorder, is one of the most common
lysosomal storage diseases (LSDs). In GD, pathogenic mutations in GBA1 result in defective …

… Background: Gaucher disease (GD) is a genetic disease … This study identified the progranulin
(PGRN) gene (GRN) as … demonstrates an unknown association between PGRN and GD …

… risk of Parkinson disease and Lewy body disease 65 . Homozygous loss of GBA has been
associated with a form of Gaucher disease, a juvenile onset lysosomal storage disease. Other …