A5071074209- Amyotrophic Lateral Sclerosis Research
- Neurogenetic and Muscular Disorders Research
- Prion Diseases and Protein Misfolding
- Genetic Neurodegenerative Diseases
- Biochemical Acid Research Studies
- Neurological diseases and metabolism
- Ubiquitin and proteasome pathways
- Autophagy in Disease and Therapy
Macquarie University
2019-2021
The University of Queensland
2019-2021
Abstract Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease commonly treated with riluzole, small molecule that may act via modulation of glutamatergic neurotransmission. However, riluzole only modestly extends lifespan for people living ALS, and its precise mechanisms action remain unclear. Most ALS cases are characterised by accumulation cytoplasmic TAR DNA binding protein 43 kDa (TDP‐43), understanding the effects in models closely recapitulate TDP‐43 pathology provide...
The past decade has seen a rapid acceleration in the discovery of new genetic causes ALS, with more than 20 putative ALS-causing genes now cited. These encode proteins that cover diverse range molecular functions, including free radical scavenging (e.g., SOD1), regulation RNA homeostasis TDP-43 and FUS), protein degradation through ubiquitin-proteasome system ubiquilin-2 cyclin F) autophagy (TBK1 sequestosome-1/p62). It is likely various initial triggers disease (either genetic,...
Abstract Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease commonly treated with riluzole, small molecule that may act via modulation of glutamatergic neurotransmission. However, riluzole only modestly extends lifespan for people living ALS and its precise mechanisms action remain unclear. Most cases are characterised by accumulation cytoplasmic TAR DNA binding protein 43 kDa (TDP-43), understanding the effects in models closely recapitulate TDP-43 pathology provide insights...