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 …

[HTML][HTML] Ferroptosis in Parkinson's disease: Glia–neuron crosstalk

ZL Wang, L Yuan, W Li, JY Li - Trends in Molecular Medicine, 2022 - cell.com
Parkinson's disease (PD) is characterized by dopaminergic (DA) neuron loss and the
formation of cytoplasmic protein inclusions. Although the exact pathogenesis of PD is …

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

V Trubetskoy, AF Pardiñas, T Qi, G Panagiotaropoulou… - Nature, 2022 - nature.com
Schizophrenia has a heritability of 60–80%, much of which is attributable to common risk
alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with …

[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 …

[HTML][HTML] Identifying disease-critical cell types and cellular processes by integrating single-cell RNA-sequencing and human genetics

KA Jagadeesh, KK Dey, DT Montoro, R Mohan… - Nature …, 2022 - nature.com
Genome-wide association studies provide a powerful means of identifying loci and genes
contributing to disease, but in many cases, the related cell types/states through which genes …

Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology

N Mullins, AJ Forstner, KS O'Connell, B Coombes… - Nature …, 2021 - nature.com
Bipolar disorder is a heritable mental illness with complex etiology. We performed a genome-
wide association study of 41,917 bipolar disorder cases and 371,549 controls of European …

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 …

Mapping genomic loci prioritises genes and implicates synaptic biology in schizophrenia

Schizophrenia Working Group of the Psychiatric … - MedRxiv, 2020 - medrxiv.org
Schizophrenia is a psychiatric disorder whose pathophysiology is largely unknown. It has a
heritability of 60-80%, much of which is attributable to common risk alleles, suggesting …

[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] Genetic diversity fuels gene discovery for tobacco and alcohol use

GRB Saunders, X Wang, F Chen, SK Jang, M Liu… - Nature, 2022 - nature.com
Tobacco and alcohol use are heritable behaviours associated with 15% and 5.3% of
worldwide deaths, respectively, due largely to broad increased risk for disease and injury …