A5088734571- Parkinson's Disease Mechanisms and Treatments
- Alzheimer's disease research and treatments
- Neurological diseases and metabolism
- melanin and skin pigmentation
- Dementia and Cognitive Impairment Research
- Biopolymer Synthesis and Applications
- RNA regulation and disease
- Nuclear Receptors and Signaling
- Iron Metabolism and Disorders
- Electron Spin Resonance Studies
- Clusterin in disease pathology
- Amyotrophic Lateral Sclerosis Research
- Neurological disorders and treatments
- Transcranial Magnetic Stimulation Studies
Neuroscience Research Australia
2009-2020
UNSW Sydney
2009-2020
The University of Sydney
2019
ARC Centre of Excellence in Cognition and its Disorders
2019
Abstract Frontotemporal dementia and amyotrophic lateral sclerosis are clinically pathologically overlapping disorders with shared genetic causes. We previously identified a disease locus on chromosome 16p12.1-q12.2 genome-wide significant linkage in large European Australian family autosomal dominant inheritance of frontotemporal no mutation known or genes. Here we demonstrate the segregation novel missense variant CYLD (c.2155A>G, p.M719V) within region as cause this family....
Iron misregulation is a central component in the neuropathology of Parkinson's disease. The iron transport protein DMT1 known to be increased brains linking functional mechanisms with accumulation. regulation therefore critical management uptake disease setting. We previously identified post-translational control levels through ubiquitin-mediated pathway led by Ndfip1, an adaptor for Nedd4 family E3 ligases. Here we show that loss Ndfip1 from mouse dopaminergic neurons resulted and...
To investigate the prevalence of clinically relevant multiple system atrophy (MSA) and Lewy body disease (LBD) pathologies in a large frontotemporal lobar degeneration (FTLD) cohort to determine if concomitant underlie heterogeneity clinical features.All prospectively followed FTLD-tau FTLD-TDP cases held by Sydney Brain Bank (n = 126) were screened for coexisting MSA LBD (Braak ≥ stage IV) pathology. Relevant (including family history) genetic associations determined.MSA pathology was not...
Abstract Introduction One of the major neuropathological features Alzheimer's disease (AD) is accumulation amyloid‐β (Aβ) protein in brain. Evidence suggests that low‐density lipoprotein receptor‐associated (RAP) binds strongly to Aβ and enhances its cellular uptake decreased RAP expression correlates with increased production animal models AD. Methods The current study examined whether levels change AD human brain tissue they are related amount pathology. NeuN were determined by Western...