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 …

Parkinson's disease: from pathogenesis to pharmacogenomics

R Cacabelos - International journal of molecular sciences, 2017 - mdpi.com
Parkinson's disease (PD) is the second most important age-related neurodegenerative
disorder in developed societies, after Alzheimer's disease, with a prevalence ranging from …

Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function

G Davies, M Lam, SE Harris, JW Trampush… - Nature …, 2018 - nature.com
General cognitive function is a prominent and relatively stable human trait that is associated
with many important life outcomes. We combine cognitive and genetic data from the …

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

MA Nalls, N Pankratz, CM Lill, CB Do, DG Hernandez… - Nature …, 2014 - nature.com
We conducted a meta-analysis of Parkinson's disease genome-wide association studies
using a common set of 7,893,274 variants across 13,708 cases and 95,282 controls. Twenty …

The link between the GBA gene and parkinsonism

E Sidransky, G Lopez - The Lancet Neurology, 2012 - thelancet.com
Mutations in the glucocerebrosidase (GBA) gene, which encodes the lysosomal enzyme that
is deficient in Gaucher's disease, are important and common risk factors for Parkinson's …

Genetic predispositions of Parkinson's disease revealed in patient-derived brain cells

J Tran, H Anastacio, C Bardy - NPJ Parkinson's disease, 2020 - nature.com
Parkinson's disease (PD) is the second most prevalent neurological disorder and has been
the focus of intense investigations to understand its etiology and progression, but it still lacks …

The genetics of P arkinson's disease: Progress and therapeutic implications

AB Singleton, MJ Farrer, V Bonifati - Movement Disorders, 2013 - Wiley Online Library
The past 15 years has witnessed tremendous progress in our understanding of the genetic
basis for Parkinson's disease (PD). Notably, whereas most mutations, such as those in …

Parkinson sac domain mutation in synaptojanin 1 impairs clathrin uncoating at synapses and triggers dystrophic changes in dopaminergic axons

M Cao, Y Wu, G Ashrafi, AJ McCartney, H Wheeler… - Neuron, 2017 - cell.com
Summary Synaptojanin 1 (SJ1) is a major presynaptic phosphatase that couples synaptic
vesicle endocytosis to the dephosphorylation of PI (4, 5) P 2, a reaction needed for the …

Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins

S Carmi, KY Hui, E Kochav, X Liu, J Xue… - Nature …, 2014 - nature.com
Abstract The Ashkenazi Jewish (AJ) population is a genetic isolate close to European and
Middle Eastern groups, with genetic diversity patterns conducive to disease mapping. Here …

Inflammation in Parkinson's disease: role of glucocorticoids

MT Herrero, C Estrada, L Maatouk… - Frontiers in neuroanatomy, 2015 - frontiersin.org
Chronic inflammation is a major characteristic feature of Parkinson's disease (PD). Studies
in PD patients show evidence of augmented levels of potent pro-inflammatory molecules eg …