The accumulation of proteinaceous inclusions in the brain is a common feature among
neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease (PD), and …

The GBA1 gene encodes the lysosomal enzyme glucocerebrosidase (GCase), which is
involved in sphingolipid metabolism. Biallelic variants in GBA1 cause Gaucher disease …

GBA1 variants are important risk factors for Parkinson's disease (PD). Most studies
assessing GBA1-related PD risk have been performed in European-derived populations …

Parkinson's disease (PD) is a neurodegenerative disorder primarily known for typical motor
features that arise due to the loss of dopaminergic neurons in the substantia nigra. However …

Beta-glucocerebrosidase is a lysosomal hydrolase, encoded by GBA1 that represents the
most common risk gene associated with Parkinson's disease (PD) and Lewy Body …

Background Identifying hereditary parkinsonism is valuable for diagnosis, genetic
counseling, patient prioritization in trials, and studying the disease for personalized …

Background GBA variants increase the risk of developing Parkinson disease (PD) and
influence its outcome. Deep brain stimulation (DBS) is a recognised therapeutic option for …

Background Variants in the GBA1 gene cause the lysosomal storage disorder Gaucher
disease (GD). They are also risk factors for Parkinson's disease (PD), and modify the …

Mutations in GBA1 cause Gaucher disease and are the most important genetic risk factor for
Parkinson's disease. However, analysis of transcription at this locus is complicated by its …

Background Recent studies have advanced our understanding of the genetic drivers of
Parkinson's disease (PD). Rare variants in more than 20 genes are considered causal for …