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 …

Gangliosides in the brain: physiology, pathophysiology and therapeutic applications

S Sipione, J Monyror, D Galleguillos… - Frontiers in …, 2020 - frontiersin.org
Gangliosides are glycosphingolipids highly abundant in the nervous system, and carry most
of the sialic acid residues in the brain. Gangliosides are enriched in cell membrane …

The genetics of Parkinson's disease and implications for clinical practice

JO Day, S Mullin - Genes, 2021 - mdpi.com
The genetic landscape of Parkinson's disease (PD) is characterised by rare high penetrance
pathogenic variants causing familial disease, genetic risk factor variants driving PD risk in a …

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 …

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 …

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 …

The Role of Cholesterol in α‐Synuclein and Lewy Body Pathology in GBA1 Parkinson's Disease

P García‐Sanz, J MFG Aerts… - Movement Disorders, 2021 - Wiley Online Library
Parkinson's disease (PD) is a progressive neurodegenerative disease where dopaminergic
neurons in the substantia nigra are lost, resulting in a decrease in striatal dopamine and …

Role of the endolysosomal system in Parkinson's disease

DJ Vidyadhara, JE Lee… - Journal of …, 2019 - Wiley Online Library
Parkinson's disease (PD) is one of the most common neurodegenerative disorders, affecting
1–1.5% of the total population. While progress has been made in understanding the …

Chaperone-mediated autophagy in neurodegenerative diseases: molecular mechanisms and pharmacological opportunities

YT Wang, JH Lu - Cells, 2022 - mdpi.com
Chaperone-mediated autophagy (CMA) is a protein degradation mechanism through
lysosomes. By targeting the KFERQ motif of the substrate, CMA is responsible for the …

Cell type-specific lipid storage changes in Parkinson's disease patient brains are recapitulated by experimental glycolipid disturbance

OR Brekk, JR Honey, S Lee… - Proceedings of the …, 2020 - National Acad Sciences
Neurons are dependent on proper trafficking of lipids to neighboring glia for lipid exchange
and disposal of potentially lipotoxic metabolites, producing distinct lipid distribution profiles …