A5059248554- Neurogenetic and Muscular Disorders Research
- Cardiomyopathy and Myosin Studies
- Amyotrophic Lateral Sclerosis Research
- Muscle Physiology and Disorders
- Parkinson's Disease Mechanisms and Treatments
- Neurological diseases and metabolism
- Pharmaceutical studies and practices
- Cancer-related gene regulation
- Glycogen Storage Diseases and Myoclonus
- Genetic Neurodegenerative Diseases
- Lysosomal Storage Disorders Research
- RNA Research and Splicing
- RNA modifications and cancer
- Child and Adolescent Psychosocial and Emotional Development
- Alzheimer's disease research and treatments
- Health, Environment, Cognitive Aging
- Cellular Mechanics and Interactions
- Genetic Associations and Epidemiology
- Genetic Syndromes and Imprinting
- Microtubule and mitosis dynamics
- Pharmacogenetics and Drug Metabolism
- Dermatological and Skeletal Disorders
- Advanced biosensing and bioanalysis techniques
- Caveolin-1 and cellular processes
- Inflammatory Myopathies and Dermatomyositis
Murdoch University
2016-2025
Perron Institute for Neurological and Translational Science
2002-2025
Duke University
1999-2025
The University of Western Australia
2002-2025
Avenir Health
2024
Queen Elizabeth II Medical Centre
1990-2022
The University of Notre Dame Australia
2020
Northwestern University
2020
Amyotrophic Lateral Sclerosis Association
2020
Durham University
2009
The interaction between the gut microbiota and alpha-synuclein (Syn) aggregation in Parkinson’s disease (PD) is receiving increasing attention. objective of this study was to investigate microbiota, effects an inflammatory lipopolysaccharide (LPS) trigger a human Syn over-expressing mouse model PD (Thy1-αSyn). Stool samples from patients with confirmed Thy1-Syn mice were analysed using 16S ribosomal RNA sequencing. Compared healthy controls, relative abundance mucin-degrading...
The congenital nemaline myopathies are rare hereditary muscle disorders characterized by the presence in fibers of bodies consisting proteins derived from Z disc and thin filament. In a single large Australian family with an autosomal dominant form myopathy, disease is caused mutation α-tropomyosin gene TPM3 . typical myopathy inherited as recessive trait, locus which we previously assigned to chromosome 2q21.2-q22. We show here that mutations nebulin located within this region associated...
The underlying genetic and molecular mechanisms that drive amyotrophic lateral sclerosis (ALS) remain poorly understood. Structural variants within the genome can play a significant role in neurodegenerative disease risk, such as repeat expansion C9orf72 tri-nucleotide ATXN2, both of which are associated with familial sporadic ALS. Many structural reside uncharacterized regions human genome, have been under studied. Therefore, characterization located around genes ALS could provide insight...
Objective There is a critical need to establish genetic markers that explain the complex phenotypes and pathogenicity of ALS. This study identified polymorphism in Stathmin-2 gene investigated its association with sporadic ALS (sALS) disease risk, age-of onset survival duration. Methods The candidate CA repeat was systematically analyzed using PCR, Sanger sequencing high throughput capillary separation for genotyping. expression RT-PCR patient olfactory neurosphere-derived (ONS) cells RNA...
The field of pharmacogenetics (PGx) is experiencing significant growth, with increasing evidence to support its application in psychiatric care, suggesting potential personalize treatment plans, optimize medication efficacy, and reduce adverse drug reactions. However, the perceived utility practicability PGx for youth remains underexplored. This study investigated barriers attitudes Australian young adults towards implementation testing guide antidepressant primary care. Semi-structured...
Abstract Mutations in the leucine‐rich repeat kinase‐2 gene ( LRRK2 ) are responsible for some forms of familial as well sporadic Parkinson's disease (PD). The purpose this study was to examine frequency a single pathogenic mutation (6055G>A) kinase domain United States and Tunisian PD compare clinical characteristics between patients with without mutation. Standardized case report were used demographic data collection. We investigated most common substitution (G2019S, 6055G>A) its...
Abstract Nemaline myopathy is a human neuromuscular disorder associated with muscle weakness, Z‐line accumulations (rods), and myofibrillar disorganization. Disease‐causing mutations have been identified in genes encoding thin filament proteins: actin, nebulin, slow troponin T, βTropomyosin, αTropomyosin . Skeletal expresses three tropomyosin (Tm) isoforms from separate genes: αTm fast (α Tm, TPM1 ), βTm ( TPM2 (γ TPM3 ). In this article, we show that the level of βTm, but not protein,...
Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) that exist on a spectrum of neurodegenerative disease. A hallmark pathology is cytoplasmic TDP-43 aggregates within neurons, observed in 97% ALS cases ~ 50% FTLD cases. This mislocalisation from the nucleus into cytoplasm cleavage are associated with pathology, however, drivers these changes unknown. p62 invariably also present aggregates. We show overexpression causes aggregates, aberrant was dependent both PB1...
Abstract Background Several studies have demonstrated a lower apolipoprotein E4 ( APOE ε4) allele frequency in African‐Americans, but yet an increased age‐related prevalence of AD. An algorithm for prevention clinical trials incorporating TOMM40'523 (Translocase Outer Mitochondria Membrane) and depends on accurate TOMM40'523‐ haplotypes. Methods We compared the phased haplotype frequencies 9.5 kb TOMM40/ genomic region West African, Caucasian, African‐American cohorts. Results scans poly‐T...
Research is increasingly focusing on gut inflammation as a contributor to Parkinson's disease (PD). Such proposed arise from complex interaction between various genetic, environmental and lifestyle factors, however these factors are under-characterized. This study investigated the association PD single-nucleotide polymorphisms (SNPs) in genes responsible for binding of bacterial metabolites intestinal homeostasis, which have been implicated infections or inflammatory bowel disease. A...
Pathogenic variations in the fused sarcoma (FUS) gene are associated with rare and aggressive forms of amyotrophic lateral sclerosis (ALS). As FUS-ALS is a dominant disease, targeted, allele-selective approach to FUS knockdown most suitable. Antisense oligonucleotides (AOs) promising therapeutic platform for treating such diseases. In this study, we have explored potential FUS. Gapmer-type AOs targeted two common neutral polymorphisms were designed evaluated human fibroblasts. had either...