Add to ORKGHeterozygous mutations in GBA1, the gene encoding lysosomal glucocerebrosidase, are the most frequent known genetic risk factor for Parkinson’s disease. Reduced glucocerebrosidase and α-synuclein accumulation are directly related in cell models of Parkinson’s disease. We investigated relationships between Parkinson’s disease-specific glucocerebrosidase deficits, glucocerebrosidase-related pathways, and α-synuclein levels in brain tissue from subjects with sporadic Parkinson’s disease without GBA1 mutations. Brain regions with and without a Parkinson’s disease-related increase in α-synuclein levels were assessed in autopsy samples from subjects with sporadic Parkinson’s disease (n = 19) and age- and post-mortem delay-matched controls (n = 10...
Mutations in the GBA gene that encodes the lysosomal enzyme β-glucocerebrosidase (GCase) are a major...
Mutations in the GBA gene that encodes the lysosomal enzyme β-glucocerebrosidase (GCase) are a major...
Mutations in the GBA gene that encodes the lysosomal enzyme β-glucocerebrosidase (GCase) are a major...
Heterozygous mutations in GBA1, the gene encoding lysosomal glucocerebrosidase, are the most frequen...
Glucocerebrosidase is a lysosomal enzyme. The characterization of a direct link between mutations in...
GBA gene variants were the first genetic risk factor for Parkinson’s disease. GBA encodes the lysoso...
In the last years, lysosomal storage diseases appear as a bridge of knowledge between rare genetic i...
Synucleinopathies including Parkinson's disease (PD) and Dementia with Lewy bodies (DLB) are charact...
Heterozygous mutations of the GBA1 gene, encoding for lysosomal enzyme glucocerebrosidase (GCase), o...
Heterozygous mutations of the GBA1 gene, encoding for lysosomal enzyme glucocerebrosidase (GCase), o...
Dysfunction of the endolysosomal system is implicated in the pathogenesis of both sporadic and famil...
Background—To establish whether Parkinson’s disease (PD) brains previously described to have decreas...
Aims: Loss-of-function mutations in GBA1, which cause the autosomal recessive lysosomal storage dise...
AbstractGaucher disease, the most common lysosomal storage disease, is caused by a recessively inher...
Mutations in the GBA gene that encodes the lysosomal enzyme β-glucocerebrosidase (GCase) are a major...
Mutations in the GBA gene that encodes the lysosomal enzyme β-glucocerebrosidase (GCase) are a major...
Mutations in the GBA gene that encodes the lysosomal enzyme β-glucocerebrosidase (GCase) are a major...
Mutations in the GBA gene that encodes the lysosomal enzyme β-glucocerebrosidase (GCase) are a major...
Heterozygous mutations in GBA1, the gene encoding lysosomal glucocerebrosidase, are the most frequen...
Glucocerebrosidase is a lysosomal enzyme. The characterization of a direct link between mutations in...
GBA gene variants were the first genetic risk factor for Parkinson’s disease. GBA encodes the lysoso...
In the last years, lysosomal storage diseases appear as a bridge of knowledge between rare genetic i...
Synucleinopathies including Parkinson's disease (PD) and Dementia with Lewy bodies (DLB) are charact...
Heterozygous mutations of the GBA1 gene, encoding for lysosomal enzyme glucocerebrosidase (GCase), o...
Heterozygous mutations of the GBA1 gene, encoding for lysosomal enzyme glucocerebrosidase (GCase), o...
Dysfunction of the endolysosomal system is implicated in the pathogenesis of both sporadic and famil...
Background—To establish whether Parkinson’s disease (PD) brains previously described to have decreas...
Aims: Loss-of-function mutations in GBA1, which cause the autosomal recessive lysosomal storage dise...
AbstractGaucher disease, the most common lysosomal storage disease, is caused by a recessively inher...
Mutations in the GBA gene that encodes the lysosomal enzyme β-glucocerebrosidase (GCase) are a major...
Mutations in the GBA gene that encodes the lysosomal enzyme β-glucocerebrosidase (GCase) are a major...
Mutations in the GBA gene that encodes the lysosomal enzyme β-glucocerebrosidase (GCase) are a major...
Mutations in the GBA gene that encodes the lysosomal enzyme β-glucocerebrosidase (GCase) are a major...
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