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 …

Therapeutics in the pipeline targeting α-synuclein for Parkinson's disease

HG Jasutkar, SE Oh, MM Mouradian - Pharmacological reviews, 2022 - ASPET
Parkinson's disease (PD) is the second most common neurodegenerative disorder and the
fastest growing neurologic disease in the world, yet no disease-modifying therapy is …

[HTML][HTML] Glucocerebrosidase-associated Parkinson disease: Pathogenic mechanisms and potential drug treatments

ME Gegg, E Menozzi, AHV Schapira - Neurobiology of Disease, 2022 - Elsevier
Dysfunction of the endolysosomal system is implicated in the pathogenesis of both sporadic
and familial Parkinson disease (PD). Variants in genes encoding lysosomal proteins have …

Emerging therapeutic strategies for Parkinson's disease and future prospects: A 2021 update

NA Gouda, A Elkamhawy, J Cho - Biomedicines, 2022 - mdpi.com
Parkinson's disease (PD) is a neurodegenerative disorder pathologically distinguished by
degeneration of dopaminergic neurons in the substantia nigra pars compacta. Muscle …

New therapeutic approaches to Parkinson's disease targeting GBA, LRRK2 and Parkin

K Senkevich, U Rudakou, Z Gan-Or - Neuropharmacology, 2022 - Elsevier
Parkinson's disease (PD) is defined as a complex disorder with multifactorial pathogenesis,
yet a more accurate definition could be that PD is not a single entity, but rather a mixture of …

Glucocerebrosidase mutations and Parkinson disease

SRL Vieira, AHV Schapira - Journal of Neural Transmission, 2022 - Springer
The discovery of glucocerebrosidase (GBA1) mutations as the greatest numerical genetic
risk factor for the development of Parkinson disease (PD) resulted in a paradigm shift within …

[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 …

Recombinant pro-CTSD (cathepsin D) enhances SNCA/α-Synuclein degradation in α-Synucleinopathy models

S Prieto Huarcaya, A Drobny, ARA Marques… - Autophagy, 2022 - Taylor & Francis
Parkinson disease (PD) is a neurodegenerative disorder characterized by the abnormal
intracellular accumulation of SNCA/α-synuclein. While the exact mechanisms underlying …

Effects of APOE4 allelic dosage on lipidomic signatures in the entorhinal cortex of aged mice

AM Miranda, A Ashok, RB Chan, B Zhou, Y Xu… - Translational …, 2022 - nature.com
Abstract Apolipoprotein E ε4 (APOE4) is the primary genetic risk factor for the late-onset form
of Alzheimer's disease (AD). Although the reason for this association is not completely …

[HTML][HTML] From Lysosomal Storage Disorders to Parkinson's Disease–Challenges and Opportunities

R Mächtel, FA Boros, JP Dobert, P Arnold… - Journal of Molecular …, 2023 - Elsevier
Lysosomes are specialized organelles with an acidic pH that act as recycling hubs for
intracellular and extracellular components. They harbour numerous different hydrolytic …