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 …

Challenges in the diagnosis of Parkinson's disease

E Tolosa, A Garrido, SW Scholz, W Poewe - The Lancet Neurology, 2021 - thelancet.com
Parkinson's disease is the second most common neurodegenerative disease and its
prevalence has been projected to double over the next 30 years. An accurate diagnosis of …

The Parkinson's disease protein alpha-synuclein is a modulator of processing bodies and mRNA stability

E Hallacli, C Kayatekin, S Nazeen, XH Wang… - Cell, 2022 - cell.com
Alpha-synuclein (αS) is a conformationally plastic protein that reversibly binds to cellular
membranes. It aggregates and is genetically linked to Parkinson's disease (PD). Here, we …

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 …

Effect of urate-elevating inosine on early Parkinson disease progression: the SURE-PD3 randomized clinical trial

B Bluett, DM Togasaki, D Mihaila, M Evatt, M Rezak… - Jama, 2021 - jamanetwork.com
Importance Urate elevation, despite associations with crystallopathic, cardiovascular, and
metabolic disorders, has been pursued as a potential disease-modifying strategy for …

[HTML][HTML] Neurodegeneration cell per cell

S Balusu, R Praschberger, E Lauwers, B De Strooper… - Neuron, 2023 - cell.com
The clinical definition of neurodegenerative diseases is based on symptoms that reflect
terminal damage of specific brain regions. This is misleading as it tells little about the initial …

Roles of clock genes in the pathogenesis of Parkinson's disease

AD Shkodina, SC Tan, MM Hasan… - Ageing Research …, 2022 - Elsevier
Parkinson's disease (PD) is a common motor disorder that has become increasingly
prevalent in the ageing population. Recent works have suggested that circadian rhythms …

[HTML][HTML] Upregulation of α-synuclein following immune activation: Possible trigger of Parkinson's disease

A Kasen, C Houck, AR Burmeister, Q Sha… - Neurobiology of …, 2022 - Elsevier
Abstract Alpha-synuclein (α-syn) has been suggested to have many functions including,
vesicle transport in neurons, transcriptional regulator, modulator of immune cell maturation …

Large-scale rare variant burden testing in Parkinson's disease

MB Makarious, J Lake, V Pitz, A Ye Fu, JL Guidubaldi… - Brain, 2023 - academic.oup.com
Parkinson's disease has a large heritable component and genome-wide association studies
have identified over 90 variants with disease-associated common variants, providing deeper …

Molecular mechanisms underlying synaptic and axon degeneration in Parkinson's disease

NZ Gcwensa, DL Russell, RM Cowell… - Frontiers in cellular …, 2021 - frontiersin.org
Parkinson's disease (PD) is a progressive neurodegenerative disease that impairs
movement as well as causing multiple other symptoms such as autonomic dysfunction, rapid …