Michelle K. Lupton
A5017531759- Alzheimer's disease research and treatments
- Genetic Associations and Epidemiology
- Bioinformatics and Genomic Networks
- Dementia and Cognitive Impairment Research
- Neuroinflammation and Neurodegeneration Mechanisms
- Functional Brain Connectivity Studies
- Health, Environment, Cognitive Aging
- Genetics, Bioinformatics, and Biomedical Research
- Folate and B Vitamins Research
- Amyotrophic Lateral Sclerosis Research
- Genetics and Neurodevelopmental Disorders
- Sleep and Wakefulness Research
- Immune cells in cancer
- Neurological diseases and metabolism
- Cholesterol and Lipid Metabolism
- Tryptophan and brain disorders
- Nutrition, Genetics, and Disease
- Epigenetics and DNA Methylation
- Sleep and related disorders
- Prion Diseases and Protein Misfolding
- Stress Responses and Cortisol
- Schizophrenia research and treatment
- Trace Elements in Health
- Drug Transport and Resistance Mechanisms
- Inflammation biomarkers and pathways
QIMR Berghofer Medical Research Institute
2016-2025
Queensland University of Technology
2020-2025
The University of Queensland
2022-2025
Molecular Biology Consortium
2023
Medical Research Institute
2021
King's College London
2010-2019
Boston University
2018
Erasmus MC
2018
Institute for Neurodegenerative Disorders
2018
The University of Texas Health Science Center at San Antonio
2018
Disorders of the brain can exhibit considerable epidemiological comorbidity and often share symptoms, provoking debate about their etiologic overlap. We quantified genetic sharing 25 disorders from genome-wide association studies 265,218 patients 784,643 control participants assessed relationship to 17 phenotypes 1,191,588 individuals. Psychiatric common variant risk, whereas neurological appear more distinct one another psychiatric disorders. also identified significant between a number...
Background Late Onset Alzheimer's disease (LOAD) is the leading cause of dementia. Recent large genome-wide association studies (GWAS) identified first strongly supported LOAD susceptibility genes since discovery involvement APOE in early 1990s. We have now exploited these GWAS datasets to uncover key pathophysiological processes. Methodology applied a recently developed tool for mining data biologically meaningful information dataset. The principal findings were then tested an independent...
Rare mutations in the gene encoding for tau (MAPT, microtubule-associated protein tau) cause frontotemporal dementia-spectrum (FTD-s) disorders, including FTD, progressive supranuclear palsy (PSP) and corticobasal syndrome, a common extended haplotype spanning across MAPT locus is associated with increased risk of PSP Parkinson's disease.We identified rare variant (p.A152T) patient clinical diagnosis assessed its frequency multiple independent series patients neurodegenerative conditions...
Abstract Background The study aimed to validate previously discovered plasma biomarkers associated with AD, using a design based on imaging measures as surrogate for disease severity and assess their prognostic value in predicting conversion dementia. Methods Three multicenter cohorts of cognitively healthy elderly, mild cognitive impairment (MCI), AD participants standardized clinical assessments structural neuroimaging were used. Twenty‐six candidate proteins quantified 1148 subjects...
Cognitive impairment is common among individuals diagnosed with autism spectrum disorder (ASD) and attention-deficit hyperactivity (ADHD). It has been suggested that some aspects of intelligence are preserved or even superior in people ASD compared controls, but consistent evidence lacking. Few studies have examined the genetic overlap between cognitive ability ASD/ADHD. The aim this study was to examine polygenic ASD/ADHD from general population. Polygenic risk for ADHD calculated...
The aim of this study was to (1) replicate previous associations between six blood lipids and Alzheimer's disease (AD) (Proitsi et al 2015) (2) identify novel lipids, clinical AD diagnosis, progression brain atrophy (left/right hippocampus/entorhinal cortex).
Physical health and chronic medical comorbidities are underestimated, inadequately treated, often overlooked in psychiatry. A multiorgan, systemwide characterization of brain body neuropsychiatric disorders may enable systematic evaluation brain-body status patients potentially identify new therapeutic targets.
Alzheimer's disease (AD) is characterized by cerebral deposition of β-amyloid (Aβ) peptides, which are generated from amyloid precursor protein (APP) β- and γ-secretases. APP the secretases membrane associated, but whether trafficking controls Aβ levels unclear. Here, we performed an RNAi screen all human Rab-GTPases, regulate trafficking, complemented with a Rab-GTPase-activating screen, present road map membrane-trafficking events regulating production. We identify Rab11 Rab3 as key...
TREM and TREM-like receptors are a structurally similar protein family encoded by genes clustered on chromosome 6p21.11. Recent studies have identified rare coding variant (p.R47H) in TREM2 that confers high risk for Alzheimer's disease (AD). In addition, common single nucleotide polymorphisms this genomic region associated with cerebrospinal fluid biomarkers AD intergenic found near the TREML2 gene has been to be protective AD. However, little is known about functional underlying latter...
Lipids such as ceramides and phosphatidylcholines (PC) have been found altered in the plasma of Alzheimer's disease (AD) patients a number discovery studies.For this reason, levels 6 3 PCs, with different fatty acid length saturation levels, were measured from 412 participants (AD n = 205, Control 207) using mass spectrometry coupled ultra-performance liquid chromatography.After this, associations AD status, brain atrophy, age-related effects studied.In participants, cross-sectional analysis...
The bidirectional relationship between depression and chronic pain is well-recognized, but their clinical management remains challenging. Here we characterize the shared risk factors outcomes for comorbidity in Australian Genetics of Depression cohort study (
Amyotrophic lateral sclerosis (ALS) is a multifactorial neurodegenerative disease characterised by the loss of upper and lower motor neurons. Increasing evidence indicates that neuroinflammation mediated microglia contributes to ALS pathogenesis. This microglial activation evident in post-mortem brain tissues neuroimaging data from patients with ALS. However, role pathogenesis progression amyotrophic remains unclear, partly due lack model system able faithfully recapitulate clinical...
Abstract Background Alzheimer’s disease (AD) is an incurable neurodegenerative disorder with a rapidly increasing prevalence worldwide. Current approaches targeting hallmark pathological features of AD have had no consistent clinical benefit. Neuroinflammation major contributor to neurodegeneration and hence, microglia, the brain’s resident immune cells, are attractive target for potentially more effective therapeutic strategies. However, there current in vitro model system that captures...
Changes in brain amyloid burden have been shown to relate Alzheimer's disease pathology, and are believed precede the development of cognitive decline. There is thus a need for inexpensive non-invasive screening methods that able accurately estimate as marker disease. One potential method would involve using demographic information measurements on plasma samples establish biomarkers burden; this study data from Disease Neuroimaging Initiative was used explore possibility. Sixteen analytes...
A marker of Alzheimer's disease (AD) that can accurately diagnose at the earliest stage would significantly support efforts to develop treatments for early intervention. We have sought determine sensitivity and specificity periphera
The similarities between dementia with Lewy bodies (DLB) and both Parkinson's disease (PD) Alzheimer's (AD) are many range from clinical presentation, to neuropathological characteristics, more recently identified, genetic determinants of risk. Because these overlapping features, diagnosing DLB is challenging has implications since some therapeutic agents that applicable in other diseases have adverse effects DLB. Having shown shares risk PD AD, we now quantified the amount sharing through...
In this study, Proitsi and colleagues use a Mendelian randomization approach to dissect the causal nature of association between circulating lipid levels late onset Alzheimer's Disease (LOAD) find that genetic predisposition increased plasma cholesterol triglyceride is not associated with elevated LOAD risk. Please see later in article for Editors' Summary