Genetics and pathogenesis of Parkinson's syndrome

H Ye, LA Robak, M Yu, M Cykowski… - Annual Review of …, 2023 - annualreviews.org
Parkinson's disease (PD) is clinically, pathologically, and genetically heterogeneous,
resisting distillation to a single, cohesive disorder. Instead, each affected individual develops …

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 …

[HTML][HTML] Rescue of a lysosomal storage disorder caused by Grn loss of function with a brain penetrant progranulin biologic

T Logan, MJ Simon, A Rana, GM Cherf, A Srivastava… - Cell, 2021 - cell.com
GRN mutations cause frontotemporal dementia (GRN-FTD) due to deficiency in progranulin
(PGRN), a lysosomal and secreted protein with unclear function. Here, we found that Grn …

Sphingosine 1-phosphate: Lipid signaling in pathology and therapy

A Cartier, T Hla - Science, 2019 - science.org
BACKGROUND Sphingosine 1-phosphate (S1P), a product of membrane sphingolipid
metabolism, is secreted and acts through G protein–coupled S1P receptors (S1PRs) in …

The role of ceramide and sphingosine-1-phosphate in Alzheimer's disease and other neurodegenerative disorders

K Czubowicz, H Jęśko, P Wencel, WJ Lukiw… - Molecular …, 2019 - Springer
Bioactive sphingolipids—ceramide, sphingosine, and their respective 1-phosphates (C1P
and S1P)—are signaling molecules serving as intracellular second messengers. Moreover …

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 …

Dysregulated lipid metabolism and its role in α-synucleinopathy in Parkinson's disease

I Alecu, SAL Bennett - Frontiers in neuroscience, 2019 - frontiersin.org
Parkinson's disease (PD) is the second most common neurodegenerative disease, the main
pathological hallmark of which is the accumulation of α-synuclein (α-syn) and the formation …

The role of lipids in Parkinson's disease

H Xicoy, B Wieringa, GJM Martens - Cells, 2019 - mdpi.com
Parkinson's disease (PD) is a neurodegenerative disease characterized by a progressive
loss of dopaminergic neurons from the nigrostriatal pathway, formation of Lewy bodies, and …

Mitochondrial dysfunction and mitophagy defect triggered by heterozygous GBA mutations

H Li, A Ham, TC Ma, SH Kuo, E Kanter, D Kim, HS Ko… - Autophagy, 2019 - Taylor & Francis
Heterozygous mutations in GBA, the gene encoding the lysosomal enzyme
glucosylceramidase beta/β-glucocerebrosidase, comprise the most common genetic risk …

Cellular and molecular basis of neurodegeneration in Parkinson disease

XS Zeng, WS Geng, JJ Jia, L Chen… - Frontiers in aging …, 2018 - frontiersin.org
It has been 200 years since Parkinson disease (PD) was described by Dr. Parkinson in
1817. The disease is the second most common neurodegenerative disease characterized …