Interaction with ERp57 is required for progranulin protection against Type 2 Gaucher disease
Gaucher disease (GD), one of the most common lysosomal storage diseases, is caused by
GBA1 mutations resulting in defective glucocerebrosidase (GCase) and consequent …
GBA1 mutations resulting in defective glucocerebrosidase (GCase) and consequent …
Progranulin recruits HSP70 to β-glucocerebrosidase and is therapeutic against Gaucher disease
J Jian, QY Tian, A Hettinghouse, S Zhao, H Liu, J Wei… - …, 2016 - thelancet.com
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 …
mutations in GBA1 encoding of β-glucocerebrosidase (GCase). Recently it was reported that …
Progranulin as a novel factor in Gaucher disease
FYM Choy, CL Christensen - EBioMedicine, 2016 - thelancet.com
In 1955, Christian de Duve discovered a novel organelle packaged with hydrolytic enzymes
for which he coined the terminology 'lysosome'(De Duve et al., 1955). Two decades later, he …
for which he coined the terminology 'lysosome'(De Duve et al., 1955). Two decades later, he …
Association between progranulin and Gaucher disease
J Jian, S Zhao, QY Tian, H Liu, Y Zhao, WC Chen… - …, 2016 - thelancet.com
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 which result in reduced enzymatic activity of β-glucocerebrosidase (GCase). This study …
Intrinsic link between PGRN and Gba1 D409V mutation dosage in potentiating Gaucher disease
Gaucher disease (GD) is caused by biallelic GBA1/Gba1 mutations that encode defective
glucocerebrosidase (GCase). Progranulin (PGRN, encoded by GRN/Grn) is a modifier of …
glucocerebrosidase (GCase). Progranulin (PGRN, encoded by GRN/Grn) is a modifier of …
Progranulin associates with Rab2 and is involved in autophagosome-lysosome fusion 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 …
various lysosomal storage diseases (LSDs), including Gaucher disease (GD), one of the …
Progranulin acts as a shared chaperone and regulates multiple lysosomal enzymes
Multifunctional factor progranulin (PGRN) plays an important role in lysosomes, and its
mutations and insufficiency are associated with lysosomal storage diseases, including …
mutations and insufficiency are associated with lysosomal storage diseases, including …
PGRN deficiency exacerbates, whereas a brain penetrant PGRN derivative protects, GBA1 mutation-associated pathologies and diseases
Mutations in GBA1, encoding glucocerebrosidase (GCase), cause Gaucher disease (GD)
and are also genetic risks in developing Parkinson's disease (PD). Currently, the approved …
and are also genetic risks in developing Parkinson's disease (PD). Currently, the approved …
Chitinase-3-like PROTEIN 1: A Progranulin downstream molecule and potential biomarker for Gaucher disease
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 …
and its deficiency associates with Gaucher Diseases (GD)(Jian et al., 2016a; Jian et al …
Mutant glucocerebrosidase in Gaucher disease recruits Hsp27 to the Hsp90 chaperone complex for proteasomal degradation
Gaucher disease is caused by mutations of the GBA1 gene, which encodes the lysosomal
anchored gluococerebrosidase (GCase). GBA1 mutations commonly result in protein …
anchored gluococerebrosidase (GCase). GBA1 mutations commonly result in protein …