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 …

Abnormal accumulation of proteinaceous intraneuronal inclusions called Lewy bodies (LBs)
is the neurpathological hallmark of Parkinson's disease (PD) and related synucleinopathies …

Importance Mutations of the glucocerebrosidase gene, GBA1 (OMIM606463), are the most
important risk factor for Parkinson disease (PD). In vitro and in vivo studies have reported …

Dopamine (DA) is the most important catecholamine in the brain, as it is the most abundant
and the precursor of other neurotransmitters. Degeneration of nigrostriatal neurons of …

Mutations in the glucocerebrosidase (GBA) gene, which encodes the lysosomal enzyme that
is deficient in Gaucher's disease, are important and common risk factors for Parkinson's …

Heterozygous mutations in GBA1, the gene encoding lysosomal glucocerebrosidase, are
the most frequent known genetic risk factor for Parkinson's disease. Reduced …

Objective: Mutations in the glucocerebrosidase gene (GBA) represent a significant risk factor
for developing Parkinson disease (PD). We investigated the enzymatic activity of …

Evidence from human postmortem material, transgenic mice, and cellular/animal models of
PD link alpha‐synuclein accumulation to alterations in the autophagy lysosomal pathway …

Mutations in GBA1, the gene encoding the lysosomal enzyme glucocerebrosidase, are
among the most common known genetic risk factors for the development of Parkinson …

Glucocerebrosidase 1 (GBA) mutations responsible for Gaucher disease (GD) are the most
common genetic risk factor for Parkinson's disease (PD). Although the genetic link between …