E Menozzi, M Toffoli, AHV Schapira - Pharmacology & therapeutics, 2023 - Elsevier
The GBA1 gene encodes the lysosomal enzyme glucocerebrosidase (GCase), which is involved in sphingolipid metabolism. Biallelic variants in GBA1 cause Gaucher disease …
GBA gene variants were the first genetic risk factor for Parkinson's disease. GBA encodes the lysosomal enzyme glucocerebrosidase (GBA), which is involved in sphingolipid …
E Hertz, Y Chen, E Sidransky - Nature Reviews Neurology, 2024 - nature.com
An exciting development in the field of neurodegeneration is the association between the rare monogenic disorder Gaucher disease and the common complex disorder Parkinson …
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 …
LJ Smith, CY Lee, E Menozzi, AHV Schapira - Frontiers in Neurology, 2022 - frontiersin.org
Variants in the GBA1 and LRRK2 genes are the most common genetic risk factors associated with Parkinson disease (PD). Both genes are associated with lysosomal and …
JP Dobert, S Bub, R Mächtel, D Januliene… - Advanced …, 2024 - Wiley Online Library
Genetic variants of GBA1 can cause the lysosomal storage disorder Gaucher disease and are among the highest genetic risk factors for Parkinson's disease (PD). GBA1 encodes the …
Abstract Purpose of Review Genetic variants in GBA1 and LRRK2 genes are the commonest genetic risk factor for Parkinson disease (PD); however, the preclinical profile of GBA1 and …
H Kim, SJ Kim - The International Journal of Biochemistry & Cell …, 2024 - Elsevier
Neuropathic lysosomal storage diseases (NLSDs), including ceroid lipofuscinosis neuronal 3 (CLN3) disease and Gaucher disease type 2 (GD2), are typically present in adolescents; …
Y Zheng, Z Zhou, M Liu, Z Chen - Pharmacology & Therapeutics, 2024 - Elsevier
Autophagy functions as the primary cellular mechanism for clearing unwanted intracellular contents. Emerging evidence suggests that the selective elimination of intracellular …