Rare variants in specific lysosomal genes are associated with Parkinson's disease

F Hopfner, SH Mueller, S Szymczak… - Movement …, 2020 - Wiley Online Library
Objective Impaired lysosomal degradation of αsynuclein and other cellular constituents
may play an important role in Parkinson's disease (PD). Rare genetic variants in the …

The Quebec Parkinson network: a researcher-patient matching platform and multimodal biorepository

Z Gan-Or, T Rao, E Leveille, C Degroot… - Journal of …, 2020 - content.iospress.com
Background: Genetic, biologic and clinical data suggest that Parkinson's disease (PD) is an
umbrella for multiple disorders with clinical and pathological overlap, yet with different …

Lysosomal ceramides regulate cathepsin B-mediated processing of saposin C and glucocerebrosidase activity

MJ Kim, H Jeong, D Krainc - Human molecular genetics, 2022 - academic.oup.com
Variants in multiple lysosomal enzymes increase Parkinson's disease (PD) risk, including
the genes encoding glucocerebrosidase (GCase), acid sphingomyelinase (ASMase) and …

Promising biomarkers and therapeutic targets for the management of Parkinson's disease: recent advancements and contemporary research

MA Khan, N Haider, T Singh, R Bandopadhyay… - Metabolic Brain …, 2023 - Springer
Parkinson's disease (PD) is one of the progressive neurological diseases which affect
around 10 million population worldwide. The clinical manifestation of motor symptoms in PD …

Genetic evidence for endolysosomal dysfunction in Parkinson's disease: a critical overview

V Yahya, A Di Fonzo, E Monfrini - International Journal of Molecular …, 2023 - mdpi.com
Parkinson's disease (PD) is the second most common neurodegenerative disorder in the
aging population, and no disease-modifying therapy has been approved to date. The …

Sexspecific pleiotropic changes in emotional behavior and alcohol consumption in human αsynuclein A53T transgenic mice during early adulthood

LS Kalinichenko, Z Kohl, C Mühle… - Journal of …, 2024 - Wiley Online Library
Point mutations in the αsynuclein coding gene may lead to the development of Parkinson's
disease (PD). PD is often accompanied by other psychiatric conditions, such as anxiety …

Glycosphingolipid metabolism and its role in ageing and Parkinson's disease

KL Wallom, ME Fernández-Suárez, DA Priestman… - Glycoconjugate …, 2022 - Springer
It is well established that lysosomal glucocerebrosidase gene (GBA) variants are a risk factor
for Parkinson's disease (PD), with increasing evidence suggesting a loss of function …

The link between Gaucher disease and Parkinson's disease sheds light on old and novel disorders of sphingolipid metabolism

R Indellicato, M Trinchera - International Journal of Molecular Sciences, 2019 - mdpi.com
Sphingolipid metabolism starts with the biosynthesis of ceramide, a bioactive lipid and the
backbone for the biosynthesis of complex sphingolipids such as sphingomyelin and …

Pharmacological inhibition of nSMase2 reduces brain exosome release and α-synuclein pathology in a Parkinson's disease model

C Zhu, T Bilousova, S Focht, M Jun, CJ Elias, M Melnik… - Molecular brain, 2021 - Springer
Aim We have previously reported that cambinol (DDL-112), a known inhibitor of neutral
sphingomyelinase-2 (nSMase2), suppressed extracellular vesicle (EV)/exosome production …

GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease

K Senkevich, CE Zorca, A Dworkind, U Rudakou… - Brain, 2023 - academic.oup.com
The association between glucocerebrosidase, encoded by GBA, and Parkinson's disease
(PD) highlights the role of the lysosome in PD pathogenesis. Genome-wide association …