The genetic architecture of Parkinson's disease

C Blauwendraat, MA Nalls, AB Singleton - The Lancet Neurology, 2020 - thelancet.com
Parkinson's disease is a complex neurodegenerative disorder for which both rare and
common genetic variants contribute to disease risk, onset, and progression. Mutations in …

GBA Variants and Parkinson Disease: Mechanisms and Treatments

L Smith, AHV Schapira - Cells, 2022 - mdpi.com
The GBA gene encodes for the lysosomal enzyme glucocerebrosidase (GCase), which
maintains glycosphingolipid homeostasis. Approximately 5–15% of PD patients have …

Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease

LA Robak, IE Jansen, J Van Rooij, AG Uitterlinden… - Brain, 2017 - academic.oup.com
Mutations in the glucocerebrosidase gene (GBA), which cause Gaucher disease, are also
potent risk factors for Parkinson's disease. We examined whether a genetic burden of …

Are dementia with Lewy bodies and Parkinson's disease dementia the same disease?

KA Jellinger, AD Korczyn - BMC medicine, 2018 - Springer
Abstract Background Dementia with Lewy bodies (DLB) and Parkinson's disease dementia
(PDD), which share many clinical, neurochemical, and morphological features, have been …

GBA, Gaucher Disease, and Parkinson's Disease: From Genetic to Clinic to New Therapeutic Approaches

GM Riboldi, AB Di Fonzo - Cells, 2019 - mdpi.com
Parkinson's disease (PD) is the second most common degenerative disorder. Although the
disease was described more than 200 years ago, its pathogenetic mechanisms have not yet …

Aging and Parkinson's Disease: Inflammaging, neuroinflammation and biological remodeling as key factors in pathogenesis

V Calabrese, A Santoro, D Monti, R Crupi… - Free Radical Biology …, 2018 - Elsevier
In order to better understand the pathogenesis of Parkinson's Disease (PD) it is important to
consider possible contributory factors inherent to the aging process, as age-related changes …

Glucocerebrosidase is imported into mitochondria and preserves complex I integrity and energy metabolism

P Baden, MJ Perez, H Raji, F Bertoli, S Kalb… - Nature …, 2023 - nature.com
Mutations in GBA1, the gene encoding the lysosomal enzyme β-glucocerebrosidase
(GCase), which cause Gaucher's disease, are the most frequent genetic risk factor for …

[HTML][HTML] Dementia with Lewy bodies and Parkinson's disease-dementia: current concepts and controversies

KA Jellinger - Journal of neural transmission, 2018 - Springer
Dementia with Lewy bodies (DLB) and Parkinson's disease-dementia (PDD), although
sharing many clinical, neurochemical and morphological features, according to DSM-5, are …

GBA and APOE Impact Cognitive Decline in Parkinson's Disease: A 10‐Year Population‐Based Study

AA Szwedo, I Dalen, KF Pedersen… - Movement …, 2022 - Wiley Online Library
Background Common genetic variance in apolipoprotein E (APOE), β‐glucocerebrosidase
(GBA), microtubule‐associated protein tau (MAPT), and α‐synuclein (SNCA) has been …

Classification of GBA1 Variants in Parkinson's Disease: The GBA1‐PD Browser

SC Parlar, FP Grenn, JJ Kim… - Movement …, 2023 - Wiley Online Library
Background GBA1 variants are among the most common genetic risk factors for Parkinson's
disease (PD). GBA1 variants can be classified into three categories based on their role in …