[HTML][HTML] A single-cell atlas of the human substantia nigra reveals cell-specific pathways associated with neurological disorders

D Agarwal, C Sandor, V Volpato, TM Caffrey… - Nature …, 2020 - nature.com
We describe a human single-nuclei transcriptomic atlas for the substantia nigra (SN),
generated by sequencing approximately 17,000 nuclei from matched cortical and SN …

[HTML][HTML] Single-cell genomic profiling of human dopamine neurons identifies a population that selectively degenerates in Parkinson's disease

T Kamath, A Abdulraouf, SJ Burris, J Langlieb… - Nature …, 2022 - nature.com
The loss of dopamine (DA) neurons within the substantia nigra pars compacta (SNpc) is a
defining pathological hallmark of Parkinson's disease (PD). Nevertheless, the molecular …

Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson's disease

J Bryois, NG Skene, TF Hansen, LJA Kogelman… - Nature …, 2020 - nature.com
Genome-wide association studies have discovered hundreds of loci associated with
complex brain disorders, but it remains unclear in which cell types these loci are active. Here …

Single-cell sequencing of human midbrain reveals glial activation and a Parkinson-specific neuronal state

S Smajić, CA Prada-Medina, Z Landoulsi, J Ghelfi… - Brain, 2022 - academic.oup.com
Idiopathic Parkinson's disease is characterized by a progressive loss of dopaminergic
neurons, but the exact disease aetiology remains largely unknown. To date, Parkinson's …

Robust dysregulation of gene expression in substantia nigra and striatum in Parkinson's disease

RM Miller, GL Kiser, TM Kaysser-Kranich… - Neurobiology of …, 2006 - Elsevier
Large-scale genomics approaches are now widely utilized to study a myriad of human
diseases. These powerful techniques, when combined with data analysis tools, detect …

Identification of candidate Parkinson disease genes by integrating genome-wide association study, expression, and epigenetic data sets

DA Kia, D Zhang, S Guelfi, C Manzoni… - JAMA …, 2021 - jamanetwork.com
Importance Substantial genome-wide association study (GWAS) work in Parkinson disease
(PD) has led to the discovery of an increasing number of loci shown reliably to be associated …

Single-cell epigenomic analyses implicate candidate causal variants at inherited risk loci for Alzheimer's and Parkinson's diseases

MR Corces, A Shcherbina, S Kundu, MJ Gloudemans… - Nature …, 2020 - nature.com
Genome-wide association studies of neurological diseases have identified thousands of
variants associated with disease phenotypes. However, most of these variants do not alter …

Expression profiling of substantia nigra in Parkinson disease, progressive supranuclear palsy, and frontotemporal dementia with parkinsonism

MA Hauser, YJ Li, H Xu, MA Noureddine… - Archives of …, 2005 - jamanetwork.com
Background Parkinson disease (PD) is characterized by loss of dopaminergic neurons in the
substantia nigra. Genes contributing to rare mendelian forms of PD have been identified, but …

[PDF][PDF] Single-cell RNA-seq of mouse dopaminergic neurons informs candidate gene selection for sporadic Parkinson disease

PW Hook, SA McClymont, GH Cannon, WD Law… - The American Journal of …, 2018 - cell.com
Genetic variation modulating risk of sporadic Parkinson disease (PD) has been primarily
explored through genome-wide association studies (GWASs). However, like many other …

[HTML][HTML] Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson's disease heritability

RH Reynolds, J Botía, MA Nalls, J Hardy… - npj Parkinson's …, 2019 - nature.com
Abstract Parkinson's disease (PD), with its characteristic loss of nigrostriatal dopaminergic
neurons and deposition of α-synuclein in neurons, is often considered a neuronal disorder …