Demis A. Kia
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View article: Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia
Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia Open
View article: Exploring the Role of Plasma Lipids and Statin Interventions on Multiple Sclerosis Risk and Severity
Exploring the Role of Plasma Lipids and Statin Interventions on Multiple Sclerosis Risk and Severity Open
Evidence from this study suggests that RAC2 is a genetic modifier of MS risk. Because RAC2 has been reported to mediate some of the pleiotropic effects of statins, we suggest that statins may reduce MS risk through a choleste…
View article: Age‐related telomere attrition in the human putamen
Age‐related telomere attrition in the human putamen Open
Age is a major risk factor for neurodegenerative diseases. Shortening of leucocyte telomeres with advancing age, arguably a measure of “biological” age, is a known phenomenon and epidemiologically correlated with age‐related disease. The m…
View article: Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson’s disease at 16q11.2 and MAPT H1 loci
Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson’s disease at 16q11.2 and MAPT H1 loci Open
Parkinson’s disease is a common incurable neurodegenerative disease. The identification of genetic variants via genome-wide association studies has considerably advanced our understanding of the Parkinson’s disease genetic risk. Understand…
View article: Exploring the Role of Plasma Lipids and Statins Interventions on Multiple Sclerosis Risk and Severity: A Mendelian Randomization Study
Exploring the Role of Plasma Lipids and Statins Interventions on Multiple Sclerosis Risk and Severity: A Mendelian Randomization Study Open
Background There has been considerable interest in statins due to their pleiotropic effects beyond their lipid-lowering properties. Many of these pleiotropic effects are predominantly ascribed to their capacity to inhibit the isoprenylatio…
View article: Tabular Data for figures of Soutar et al. 2022
Tabular Data for figures of Soutar et al. 2022 Open
Tabular data of analysed data presented in figures of the manuscript "Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson’s disease at Chr16q11.2 and on the MAPT H1 allele" by Soutar et al., 2022.
View article: Tabular Data for figures of Soutar et al. 2022
Tabular Data for figures of Soutar et al. 2022 Open
Tabular data of analysed data presented in figures of the manuscript "Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson’s disease at Chr16q11.2 and on the MAPT H1 allele" by Soutar et al., 2022.
View article: Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson’s disease: Bioinformatic Prioritisation and Hit Validation v1
Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson’s disease: Bioinformatic Prioritisation and Hit Validation v1 Open
This protocol describes the Bioinformatic Prioritisation of PD GWAS candidates for High Content Screening, and Hit Validation by allele-specific expression (ASE) analysis.
View article: Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome
Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome Open
Parkinson’s disease is a neurodegenerative movement disorder that currently has no disease-modifying treatment, partly owing to inefficiencies in drug target identification and validation. We use Mendelian randomization to investigate over…
View article: Identification of sixteen novel candidate genes for late onset Parkinson’s disease
Identification of sixteen novel candidate genes for late onset Parkinson’s disease Open
View article: MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration
MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration Open
View article: Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage
Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage Open
View article: Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets
Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets Open
Together, these results suggest that several candidate genes and pathways are associated with the findings observed in PD GWAS studies.
View article: Predicting the efficacy of exenatide in Parkinson’s disease using genetics – a Mendelian randomization study
Predicting the efficacy of exenatide in Parkinson’s disease using genetics – a Mendelian randomization study Open
Background Exenatide is a glucagon-like peptide 1 receptor (GLP1R) agonist used in type 2 diabetes mellitus that has shown promise for Parkinson’s disease in a phase II clinical trial. Drugs with genetic evidence are more likely to be succ…
View article: <i>C9orf72</i> , age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts
<i>C9orf72</i> , age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts Open
Our results indicate correlation between pathogenic C9orf72 expansions, AAO, PCA-based Central/Northern European ancestry, and a diagnosis of bvFTD, implying complex genetic risk architectures differently underpinning the behavioral…
View article: Finding drug targeting mechanisms with genetic evidence for Parkinson’s disease
Finding drug targeting mechanisms with genetic evidence for Parkinson’s disease Open
Summary Parkinson’s disease (PD) is a neurodegenerative movement disorder that currently has no disease-modifying treatment, partly owing to inefficiencies in drug target identification and validation using human evidence. Here, we use Men…
View article: Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders
Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders Open
Dystonia is a neurological disorder characterized by sustained or intermittent muscle contractions causing abnormal movements and postures, often occurring in absence of any structural brain abnormality. Psychiatric comorbidities, includin…
View article: Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information
Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information Open
View article: Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson’s disease at Chr16q11.2 and on the MAPT H1 allele
Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson’s disease at Chr16q11.2 and on the MAPT H1 allele Open
Parkinson’s disease (PD) is a common incurable neurodegenerative disease. The identification of genetic variants via genome-wide association studies (GWAS) has considerably advanced our understanding of the PD genetic risk. Understanding t…
View article: Using Mendelian randomization to understand and develop treatments for neurodegenerative disease
Using Mendelian randomization to understand and develop treatments for neurodegenerative disease Open
Common neurodegenerative diseases are thought to arise from a combination of environmental and genetic exposures. Mendelian randomization is a powerful way to leverage existing genetic data to investigate causal relationships between risk …
View article: Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies
Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies Open
View article: The Parkinson's Disease Mendelian Randomization Research Portal
The Parkinson's Disease Mendelian Randomization Research Portal Open
Background Mendelian randomization is a method for exploring observational associations to find evidence of causality. Objective To apply Mendelian randomization between risk factors/phenotypic traits (exposures) and PD in a large, unbiase…
View article: Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset
Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset Open
View article: Integration of eQTL and Parkinson’s disease GWAS data implicates 11 disease genes
Integration of eQTL and Parkinson’s disease GWAS data implicates 11 disease genes Open
Substantial genome-wide association study (GWAS) work in Parkinson’s disease (PD) has led to an increasing number of loci shown reliably and robustly to be associated with the increased risk of the disease. Prioritising causative genes and…
View article: Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability
Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability Open
View article: The Parkinson’s Disease Mendelian Randomization Research Portal
The Parkinson’s Disease Mendelian Randomization Research Portal Open
Background Mendelian randomization (MR) is a method for exploring observational associations to find evidence of causality. Objective To apply MR between multiple risk factors/phenotypic traits (exposures) and Parkinson’s disease (PD) in a…
View article: LRP10 in α-synucleinopathies
LRP10 in α-synucleinopathies Open
View article: Expanding Parkinson’s disease genetics: novel risk loci, genomic context, causal insights and heritable risk
Expanding Parkinson’s disease genetics: novel risk loci, genomic context, causal insights and heritable risk Open
We performed the largest genome-wide association study of PD to date, involving the analysis of 7.8M SNPs in 37.7K cases, 18.6K UK Biobank proxy-cases, and 1.4M controls. We identified 90 independent genome-wide significant signals across …
View article: Mendelian randomization study shows no causal relationship between circulating urate levels and Parkinson's disease
Mendelian randomization study shows no causal relationship between circulating urate levels and Parkinson's disease Open
Objective Observational studies have shown that increased plasma urate is associated with lower risk of Parkinson's disease (PD), but these studies were not designed to test causality. If a causal relationship exists, then modulating plasm…
View article: Stratification of candidate genes for Parkinson’s disease using weighted protein-protein interaction network analysis
Stratification of candidate genes for Parkinson’s disease using weighted protein-protein interaction network analysis Open