A5082728317- Genetic Neurodegenerative Diseases
- Autophagy in Disease and Therapy
- Mitochondrial Function and Pathology
- Alzheimer's disease research and treatments
- Amyotrophic Lateral Sclerosis Research
- Histone Deacetylase Inhibitors Research
- Neurogenetic and Muscular Disorders Research
- Parkinson's Disease Mechanisms and Treatments
- Prion Diseases and Protein Misfolding
- Neuroinflammation and Neurodegeneration Mechanisms
- Sirtuins and Resveratrol in Medicine
- Neurological and metabolic disorders
- Cytomegalovirus and herpesvirus research
- Biotin and Related Studies
- Advanced MRI Techniques and Applications
- Nuclear Receptors and Signaling
- Cannabis and Cannabinoid Research
- Computational Drug Discovery Methods
- Cholinesterase and Neurodegenerative Diseases
- Lipid metabolism and biosynthesis
Macquarie University
2021-2024
The University of Melbourne
2018
Abstract Spinocerebellar ataxia type 3 (SCA3, also known as Machado Joseph disease) is a fatal neurodegenerative disease caused by the expansion of trinucleotide repeat region within ATXN3/MJD gene. Mutation ATXN3 causes formation ataxin‐3 protein aggregates, neurodegeneration, and motor deficits. Here we investigated therapeutic potential mechanistic activity sodium butyrate (SB), salt butyric acid, metabolite naturally produced gut microbiota, on cultured SH‐SY5Y cells transgenic zebrafish...
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterised by the loss of upper and lower motor neurons in brain spinal cord. ALS frontotemporal dementia (FTD) are overlapping diseases with shared pathological features. Affected people FTD typically contain ubiquitin-immunoreactive inclusions, which TDP-43 (Tar DNA-binding protein 43 kDa) major component. However, what triggers formation these abnormal inclusions unclear. Previously, we identified CCNF mutations...
Background: Spinocerebellar ataxia 3 (SCA3, also known as Machado Joseph disease) is a fatal neurodegenerative disease caused by the expansion of trinucleotide repeat region within ATXN3/MJD gene. The presence this genetic results in an ataxin-3 protein containing polyglutamine region, which renders aggregation prone. Formation aggregates linked with neuronal loss and, therefore, development motor deficits. Methods: Here, we investigated whether autophagy quality control pathway, important...
Emerging evidence suggests the presence of bidirectional interactions between central nervous system and gut microbiota that may contribute to pathogenesis neurodegenerative diseases. However, potential role microbes in forms spinocerebellar ataxia, such as fatal disease Machado Joseph (MJD), remains unexplored. Here, we examined whether alterations be an early phenotype MJD. We profiled male female transgenic MJD mice (CMVMJD135) expressing human ATXN3 with expanded CAG repeats (133-143...
Machado-Joseph disease (MJD, also known as spinocerebellar ataxia type 3) is a fatal neurodegenerative that impairs control and coordination of movement. Here we tested whether treatment with the histone deacetylase inhibitor sodium valproate (valproate) prevented movement phenotype develops in larvae transgenic zebrafish model disease. We found improved swimming MJD zebrafish, affected levels acetylated histones 3 4, but increased expression polyglutamine expanded human ataxin-3. Proteomic...
Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease and characterized by degeneration upper lower neurons brain spinal cord. ALS also linked clinically, genetically, pathologically to a dementia known as frontotemporal (FTD). Identifying gene mutations that cause ALS/FTD has provided valuable insight into process. Several ALS/FTD-causing occur within proteins with roles in protein clearance systems. This includes CCNF, which encodes cyclin F: component...
Previously, we demonstrated that the SCFcyclin F complex directly mediates poly-ubiquitylation of TDP-43, raising question whether cyclin can be used to enhance turnover TDP-43. A hurdle use F, however, is overexpression lead initiation cell death pathways. Accordingly, aim this study was identify and evaluate a less toxic variant F. To do so, first confirmed validated our previous findings binds TDP-43 in an atypical manner. Additionally, mutating canonical substrate region (to generate...
Abstract Machado-Joseph disease (MJD, also known as spinocerebellar ataxia-3) is a fatal neurodegenerative that impairs control and coordination of movement. Here we tested whether treatment with the histone deacetylase inhibitor sodium valproate (SV) prevented movement phenotype develops in larvae transgenic zebrafish model disease. We found SV improved swimming MJD zebrafish, increased levels acetylated histones 3 4, but expression polyglutamine expanded human ataxin-3. Proteomic analysis...
Abstract Spinocerebellar ataxia type 3 (SCA3, also known as Machado Joseph disease) is a fatal neurodegenerative disease caused by expansion of the trinucleotide repeat region within ATXN3/MJD gene. Mutation ATXN3 causes formation ataxin-3 protein aggregates, neurodegeneration and motor deficits. Here we investigated therapeutic potential mechanistic activity sodium butyrate (SB), salt butyric acid, metabolite naturally produced gut microbiota, on cultured SH-SY5Y cells transgenic zebrafish...