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 …

Neuropathology of incidental Lewy body & prodromal Parkinson's disease

T Koeglsperger, SL Rumpf, P Schließer… - Molecular …, 2023 - Springer
Background Parkinson's disease (PD) is a progressive neurodegenerative disorder
associated with a loss of dopaminergic (DA) neurons. Despite symptomatic therapies, there …

[HTML][HTML] The NAD+ precursor nicotinamide riboside rescues mitochondrial defects and neuronal loss in iPSC and fly models of Parkinson's disease

DC Schöndorf, D Ivanyuk, P Baden… - Cell reports, 2018 - cell.com
While mitochondrial dysfunction is emerging as key in Parkinson's disease (PD), a central
question remains whether mitochondria are actual disease drivers and whether boosting …

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 …

α-Synuclein–induced lysosomal dysfunction occurs through disruptions in protein trafficking in human midbrain synucleinopathy models

JR Mazzulli, F Zunke, O Isacson… - Proceedings of the …, 2016 - National Acad Sciences
Parkinson's disease (PD) is an age-related neurodegenerative disorder characterized by the
accumulation of protein aggregates comprised of α-synuclein (α-syn). A major barrier in …

Parkinson disease

W Poewe, K Seppi, CM Tanner, GM Halliday… - Nature reviews Disease …, 2017 - nature.com
Parkinson disease is the second-most common neurodegenerative disorder that affects 2–
3% of the population≥ 65 years of age. Neuronal loss in the substantia nigra, which causes …

Balancing mTOR signaling and autophagy in the treatment of Parkinson's disease

Z Zhu, C Yang, A Iyaswamy, S Krishnamoorthi… - International journal of …, 2019 - mdpi.com
The mammalian target of rapamycin (mTOR) signaling pathway plays a critical role in
regulating cell growth, proliferation, and life span. mTOR signaling is a central regulator of …

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 …

Activation of β-glucocerebrosidase reduces pathological α-synuclein and restores lysosomal function in Parkinson's patient midbrain neurons

JR Mazzulli, F Zunke, T Tsunemi, NJ Toker… - Journal of …, 2016 - Soc Neuroscience
Parkinson's disease (PD) is characterized by the accumulation of α-synuclein (α-syn) within
Lewy body inclusions in the nervous system. There are currently no disease-modifying …

Glycosphingolipids and neuroinflammation in Parkinson's disease

K Belarbi, E Cuvelier, MA Bonte, M Desplanque… - Molecular …, 2020 - Springer
Parkinson's disease is a progressive neurodegenerative disease characterized by the loss
of dopaminergic neurons of the nigrostriatal pathway and the formation of neuronal …