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 …
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 …
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 …
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 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 …
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 …
Aberrant progranulin, YKL-40, cathepsin D and cathepsin S in Gaucher disease
Y Afinogenova, J Ruan, R Yang, N Kleytman… - Molecular genetics and …, 2019 - Elsevier
In Gaucher disease, several macrophage-specific biomarkers have been validated for use in
the clinic. However, Gaucher disease is more complex involving system-wide …
the clinic. However, Gaucher disease is more complex involving system-wide …
An increase in ER stress and unfolded protein response in iPSCs-derived neuronal cells from neuronopathic Gaucher disease patients
T Pornsukjantra, N Saikachain, N Sutjarit… - Scientific Reports, 2024 - nature.com
Gaucher disease (GD) is a lysosomal storage disorder caused by a mutation in the GBA1
gene, responsible for encoding the enzyme Glucocerebrosidase (GCase). Although …
gene, responsible for encoding the enzyme Glucocerebrosidase (GCase). Although …
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 …