More than meets the eye in Parkinson's disease and other synucleinopathies: from proteinopathy to lipidopathy

M Flores-Leon, TF Outeiro - Acta neuropathologica, 2023 - Springer
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 …

[HTML][HTML] Targeting the GBA1 pathway to slow Parkinson disease: Insights into clinical aspects, pathogenic mechanisms and new therapeutic avenues

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 …

The consequences of GBA deficiency in the autophagy–lysosome system in Parkinson's disease associated with GBA

E Pradas, M Martinez-Vicente - Cells, 2023 - mdpi.com
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 …

Gaucher disease provides a unique window into Parkinson disease pathogenesis

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 …

[HTML][HTML] Mechanisms of Glucocerebrosidase Dysfunction in Parkinson's Disease

D Chatterjee, D Krainc - Journal of molecular biology, 2023 - Elsevier
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 …

Genetic variations in GBA1 and LRRK2 genes: Biochemical and clinical consequences in Parkinson disease

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 …

Activation and Purification of ß‐Glucocerebrosidase by Exploiting its Transporter LIMP‐2 – Implications for Novel Treatment Strategies in Gaucher's and Parkinson's …

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 …

Who is at Risk of Parkinson Disease? Refining the Preclinical Phase of GBA1 and LRRK2 Variant Carriers: a Clinical, Biochemical, and Imaging Approach

E Menozzi, AHV Schapira, F Blandini… - Current Neurology and …, 2023 - Springer
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 …

Upregulation of peroxisome proliferator-activated receptor γ with resorcinol alleviates reactive oxygen species generation and lipid accumulation in neuropathic …

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; …

Targeting selective autophagy in CNS disorders by small-molecule compounds

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 …