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 …

Applications of genome editing technology in the targeted therapy of human diseases: mechanisms, advances and prospects

H Li, Y Yang, W Hong, M Huang, M Wu… - Signal transduction and …, 2020 - nature.com
Based on engineered or bacterial nucleases, the development of genome editing
technologies has opened up the possibility of directly targeting and modifying genomic …

Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity

S Gazal, O Weissbrod, F Hormozdiari, KK Dey… - Nature Genetics, 2022 - nature.com
Disease-associated single-nucleotide polymorphisms (SNPs) generally do not implicate
target genes, as most disease SNPs are regulatory. Many SNP-to-gene (S2G) linking …

The genetic architecture of Parkinson's disease

C Blauwendraat, MA Nalls, AB Singleton - The Lancet Neurology, 2020 - thelancet.com
Parkinson's disease is a complex neurodegenerative disorder for which both rare and
common genetic variants contribute to disease risk, onset, and progression. Mutations in …

Long-range enhancer–promoter contacts in gene expression control

S Schoenfelder, P Fraser - Nature Reviews Genetics, 2019 - nature.com
Spatiotemporal gene expression programmes are orchestrated by transcriptional
enhancers, which are key regulatory DNA elements that engage in physical contacts with …

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 …

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 …

A gut bacterial amyloid promotes α-synuclein aggregation and motor impairment in mice

TR Sampson, C Challis, N Jain, A Moiseyenko… - elife, 2020 - elifesciences.org
Amyloids are a class of protein with unique self-aggregation properties, and their aberrant
accumulation can lead to cellular dysfunctions associated with neurodegenerative diseases …

The post-GWAS era: from association to function

MD Gallagher, AS Chen-Plotkin - The American Journal of Human …, 2018 - cell.com
During the past 12 years, genome-wide association studies (GWASs) have uncovered
thousands of genetic variants that influence risk for complex human traits and diseases. Yet …

[HTML][HTML] Gut microbiota regulate motor deficits and neuroinflammation in a model of Parkinson's disease

TR Sampson, JW Debelius, T Thron, S Janssen… - Cell, 2016 - cell.com
The intestinal microbiota influence neurodevelopment, modulate behavior, and contribute to
neurological disorders. However, a functional link between gut bacteria and …