Aims: Loss-of-function mutations in GBA1, which cause the autosomal recessive lysosomal storage disease, Gaucher disease (GD), are also a key genetic risk factor for the α-synucleinopathies, including Parkinson's disease (PD) and dementia with Lewy bodies. GBA1 encodes for the lysosomal hydrolase glucocerebrosidase and reductions in this enzyme result in the accumulation of the glycolipid substrates glucosylceramide and glucosylsphingosine. Deficits in autophagy and lysosomal degradation pathways likely contribute to the pathological accumulation of α-synuclein in PD. In this report we used conduritol-β-epoxide (CBE), a potent selective irreversible competitive inhibitor of glucocerebrosidase, to model reduced glucocerebrosidase activity in...
The enzyme glucocerebrosidase (GBA) hydrolyses glucosylceramide (GlcCer) in lysosomes. Markedly redu...
The enzyme glucocerebrosidase (GBA) hydrolyses glucosylceramide (GlcCer) in lysosomes. Markedly redu...
SummaryParkinson's disease (PD), an adult neurodegenerative disorder, has been clinically linked to ...
Aims: Loss-of-function mutations in GBA1, which cause the autosomal recessive lysosomal storage dise...
GBA1 gene encodes for the lysosomal membrane protein glucocerebrosidase (GCase). GBA1 heterozygous m...
Glucocerebrosidase is a lysosomal enzyme. The characterization of a direct link between mutations in...
GBA1 gene encodes for the lysosomal membrane protein glucocerebrosidase (GCase). GBA1 heterozygous m...
Heterozygous mutations in GBA1, the gene encoding lysosomal glucocerebrosidase, are the most frequen...
Mutations in the lysosomal enzyme glucocerebrosidase (GCase, GBA1 gene) are the most common genetic ...
Heterozygous mutations in GBA1, the gene encoding lysosomal glucocerebrosidase, are the most frequen...
AbstractGaucher disease, the most common lysosomal storage disease, is caused by a recessively inher...
Diminished lysosomal function can lead to abnormal cellular accumulation of specific proteins, inclu...
AbstractDiminished lysosomal function can lead to abnormal cellular accumulation of specific protein...
The enzyme glucocerebrosidase (GBA) hydrolyses glucosylceramide (GlcCer) in lysosomes. Markedly redu...
textabstractThe enzyme glucocerebrosidase (GBA) hydrolyses glucosylceramide (GlcCer) in lysosomes. M...
The enzyme glucocerebrosidase (GBA) hydrolyses glucosylceramide (GlcCer) in lysosomes. Markedly redu...
The enzyme glucocerebrosidase (GBA) hydrolyses glucosylceramide (GlcCer) in lysosomes. Markedly redu...
SummaryParkinson's disease (PD), an adult neurodegenerative disorder, has been clinically linked to ...
Aims: Loss-of-function mutations in GBA1, which cause the autosomal recessive lysosomal storage dise...
GBA1 gene encodes for the lysosomal membrane protein glucocerebrosidase (GCase). GBA1 heterozygous m...
Glucocerebrosidase is a lysosomal enzyme. The characterization of a direct link between mutations in...
GBA1 gene encodes for the lysosomal membrane protein glucocerebrosidase (GCase). GBA1 heterozygous m...
Heterozygous mutations in GBA1, the gene encoding lysosomal glucocerebrosidase, are the most frequen...
Mutations in the lysosomal enzyme glucocerebrosidase (GCase, GBA1 gene) are the most common genetic ...
Heterozygous mutations in GBA1, the gene encoding lysosomal glucocerebrosidase, are the most frequen...
AbstractGaucher disease, the most common lysosomal storage disease, is caused by a recessively inher...
Diminished lysosomal function can lead to abnormal cellular accumulation of specific proteins, inclu...
AbstractDiminished lysosomal function can lead to abnormal cellular accumulation of specific protein...
The enzyme glucocerebrosidase (GBA) hydrolyses glucosylceramide (GlcCer) in lysosomes. Markedly redu...
textabstractThe enzyme glucocerebrosidase (GBA) hydrolyses glucosylceramide (GlcCer) in lysosomes. M...
The enzyme glucocerebrosidase (GBA) hydrolyses glucosylceramide (GlcCer) in lysosomes. Markedly redu...
The enzyme glucocerebrosidase (GBA) hydrolyses glucosylceramide (GlcCer) in lysosomes. Markedly redu...
SummaryParkinson's disease (PD), an adult neurodegenerative disorder, has been clinically linked to ...