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

Progranulin (PGRN, encoded by the GRN gene) plays a key role in the development,
survival, function, and maintenance of neurons and microglia in the mammalian brain. It 

Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is
caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an 

Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are fatal
neurodegenerative disorders that are thought to exist on a clinical and pathological 

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 

Haploinsufficiency of the progranulin (PGRN)encoding gene (GRN) causes frontotemporal
lobar degeneration (GRNFTLD) and results in microglial hyperactivation, TREM2 

Summary Progranulin (GRN) and TMEM106B are associated with several common
neurodegenerative disorders including frontotemporal lobar degeneration (FTLD). A 

The GBA1 gene encodes the lysosomal enzyme glucocerebrosidase (GCase), which is
involved in sphingolipid metabolism. Biallelic variants in GBA1 cause Gaucher disease 

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

Mutations in GBA1, the gene encoding the lysosomal hydrolase glucocerebrosidase
(GCase), are a risk factor for parkinsonism. Pursuing the potential mechanisms underlying