Parkinson's disease genetics and pathophysiology

GE Vázquez-Vélez, HY Zoghbi - Annual review of neuroscience, 2021 - annualreviews.org
Parkinson's disease (PD) is a common neurodegenerative disorder characterized by
degeneration of the substantia nigra pars compacta and by accumulation of α-synuclein in …

[HTML][HTML] 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] Proteome profiling of cerebrospinal fluid reveals biomarker candidates for Parkinson's disease

O Karayel, SV Winter, S Padmanabhan, YI Kuras… - Cell Reports …, 2022 - cell.com
Parkinson's disease (PD) is a growing burden worldwide, and there is no reliable biomarker
used in clinical routines to date. Cerebrospinal fluid (CSF) is routinely collected in patients …

[HTML][HTML] 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 …

[HTML][HTML] Therapeutic potential of autophagy-enhancing agents in Parkinson's disease

TE Moors, JJM Hoozemans, A Ingrassia… - Molecular …, 2017 - Springer
Converging evidence from genetic, pathological and experimental studies have increasingly
suggested an important role for autophagy impairment in Parkinson's Disease (PD). Genetic …

[HTML][HTML] Recent advances and perspectives of metabolomics-based investigations in Parkinson's disease

Y Shao, W Le - Molecular neurodegeneration, 2019 - Springer
Parkinson's disease (PD) is the second most prevalent neurodegenerative disease of the
central nervous system (CNS), which affects mostly older adults. In recent years, the …

[HTML][HTML] Dysregulation of ubiquitin-proteasome system in neurodegenerative diseases

Q Zheng, T Huang, L Zhang, Y Zhou, H Luo… - Frontiers in aging …, 2016 - frontiersin.org
The ubiquitin-proteasome system (UPS) is one of the major protein degradation pathways,
where abnormal UPS function has been observed in cancer and neurological diseases …

[HTML][HTML] Role of dopamine in the pathophysiology of Parkinson's disease

ZD Zhou, LX Yi, DQ Wang, TM Lim, EK Tan - Translational …, 2023 - Springer
A pathological feature of Parkinson's disease (PD) is the progressive loss of dopaminergic
neurons and decreased dopamine (DA) content in the substantia nigra pars compacta in PD …

[HTML][HTML] 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 …

[HTML][HTML] The emerging role of the lysosome in Parkinson's disease

A Navarro-Romero, M Montpeyó, M Martinez-Vicente - Cells, 2020 - mdpi.com
Lysosomal function has a central role in maintaining neuronal homeostasis, and,
accordingly, lysosomal dysfunction has been linked to neurodegeneration and particularly to …