A5008395504- Amyotrophic Lateral Sclerosis Research
- Pluripotent Stem Cells Research
- Cardiovascular Issues in Pregnancy
- CRISPR and Genetic Engineering
- 3D Printing in Biomedical Research
- Neuroscience and Neural Engineering
- Cardiac Structural Anomalies and Repair
- Genetics and Neurodevelopmental Disorders
- Aortic Disease and Treatment Approaches
- Neurological diseases and metabolism
- Neurogenetic and Muscular Disorders Research
- Autophagy in Disease and Therapy
- Alzheimer's disease research and treatments
- Connective tissue disorders research
- Ubiquitin and proteasome pathways
- Cerebrovascular and genetic disorders
- Innovative Microfluidic and Catalytic Techniques Innovation
- Prion Diseases and Protein Misfolding
- Congenital Heart Disease Studies
- Biomedical Ethics and Regulation
- Single-cell and spatial transcriptomics
- Peptidase Inhibition and Analysis
- Additive Manufacturing and 3D Printing Technologies
- Coronary Artery Anomalies
- Parkinson's Disease Mechanisms and Treatments
Victor Chang Cardiac Research Institute
2022-2025
UNSW Sydney
2022-2025
Illawarra Health and Medical Research Institute
2015-2023
University of Wollongong
2015-2023
The mechanisms by which DNA alleles contribute to disease risk, drug response, and other human phenotypes are highly context-specific, varying across cell types different conditions. Human induced pluripotent stem cells uniquely suited study these context-dependent effects but lines from hundreds or thousands of individuals required. Village cultures, where multiple cultured differentiated in a single dish, provide an elegant solution for scaling experiments the necessary sample sizes...
Amyotrophic Lateral Sclerosis is characterized by a focal onset of symptoms followed progressive spread pathology that has been likened to transmission infectious prions. Cell-to-cell SOD1 protein aggregates dependent on fluid-phase endocytosis pathways, although the precise molecular mechanisms remain be elucidated. We demonstrate in this paper interact with cell surface triggering activation Rac1 and subsequent membrane ruffling permitting aggregate uptake via stimulated macropinocytosis....
Spontaneous coronary artery dissection (SCAD) is a cause of acute syndrome that predominantly affects women. Its pathophysiology remains unclear but connective tissue disorders (CTD) and other vasculopathies have been observed in many SCAD patients. A genetic component for increasingly appreciated, although few genes robustly implicated. We sought to clarify the using targeted genome-wide methods cohort sporadic cases identify both common rare disease-associated variants.
The ubiquitin proteasome system (UPS) plays an important role in regulating numerous cellular processes, and a dysfunctional UPS is thought to contribute motor neuron disease. Consequently, we sought map the changing ubiquitome human iPSCs during their pluripotent stage following differentiation neurons. Ubiquitinomics analysis identified that spliceosomal ribosomal proteins were more ubiquitylated stem cells, whilst involved fatty acid metabolism cytoskeleton specifically regulator,...
Background Spontaneous coronary artery dissection (SCAD) is an increasingly recognized cause of acute syndrome or sudden cardiac death, primarily affecting relatively young women (median age, 51 years) without typical cardiovascular risk factors. SCAD has a genetic component, with genome‐wide association studies identifying multiple loci. Thoracic aortic (type A) shares some overlap SCAD, suggesting potential common predispositions. Methods We performed screening whole‐genome sequencing 17...
The induced pluripotent stem cell (iPSC) lines UOWi002-A and UOWi003-A were reprogrammed from dermal fibroblasts via mRNA transfection. Dermal a 56 year old female caucasian familial Alzheimer's disease patient carrying A246E mutation in the PSEN1 gene (familial AD3, autopsy confirmed disease) 75 non-demented control same family bearing wild-type A246 genotype obtained Coriell Institute (AG06848 AG06846, respectively). generated iPSCs characterized pluripotency was confirmed. maintained both...
Peripheral dermal fibroblasts (DF) from a healthy 56 year old female were obtained the Centre for Healthy Brain Ageing (CHeBA) Biobank, University of New South Wales, under material transfer agreement with Wollongong. DFs reprogrammed via mRNA-delivered transcription factors into induced pluripotent stem cells (iPSCs). The generated iPSCs confirmed to be pluripotent, capable three germ layer differentiation and are thus useful resource creating iPSC-derived human any lineage. Resource...
Cardiovascular diseases remain the most lethal disorders worldwide. Employing preeminent techniques is paramount for addressing this global challenge. Recent advances in lab-on-a-chip technology have potential to transform cardiovascular medicine by providing new tools understanding biological variability that underlies disease and drug response. Coupling improved fabrication cellular models with artificial intelligence-based design analysis primes field model explore biology more accurately...
Abstract Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are fatal neurodegenerative disorders that share pathological features, including the aberrant accumulation of ubiquitinated protein inclusions within motor neurons. Previously, we have shown sequestration ubiquitin (Ub) into disrupts Ub homeostasis in cells expressing ALS-associated variants superoxide dismutase 1 (SOD1), fused sarcoma (FUS) TAR DNA-binding 43 (TDP-43). Here, investigated whether an...
Dermal fibroblasts from a 59 year old male patient with amyotrophic lateral sclerosis (symptomatic at the time of collection), attributed to mutation in cyclin F gene (CCNFS621G), were reprogrammed using mRNA and microRNA-delivered OSKM factors induced pluripotent stem cells (iPSCs). The generated iPSCs confirmed pluripotent, expressing typical pluripotency markers capable three germ layer differentiation. This is first reported reprogramming gene, represents novel resource for study sclerosis.
Dermal fibroblasts were donated by a 43 year old male patient with clinically diagnosed familial amyotrophic lateral sclerosis (ALS), carrying the SOD1E101G mutation. The induced pluripotent stem cell (iPSC) line UOWi007-A was generated using repeated mRNA transfections for pluripotency transcription factors Oct4, Klf4, Sox2, c-Myc, Lin28 and Nanog. iPSCs carried genotype had normal karyotype, expressed expected markers capable of in vitro differentiation into endodermal, mesodermal...
Spontaneous Coronary Artery Dissection (SCAD) results from a bleed within coronary artery wall that impairs blood flow as it expands. It is the most common cause of myocardial infarction in pregnant women. Here, peripheral mononuclear cells two sisters who had suffered SCADs were reprogrammed using Sendai Virus. Expression pluripotency markers, capability to differentiate three germ layers, and cellular integrity confirmed. This first report SCAD family induced pluripotent stem cell (iPSC)...