A5055145420- Cardiomyopathy and Myosin Studies
- Cellular transport and secretion
- Cellular Mechanics and Interactions
- Muscle Physiology and Disorders
- Genetic Neurodegenerative Diseases
King's College London
2022-2024
Nemaline myopathy (NM) is one of the most common non-dystrophic genetic muscle disorders. NM often associated with mutations in NEB gene. Even though exact NEB-NM pathophysiological mechanisms remain unclear, histological analyses patients' biopsies reveal unexplained accumulation glycogen and abnormally shaped mitochondria. Hence, aim present study was to define molecular cellular cascade events that would lead potential changes energetics NEB-NM. For that, we applied a wide range...
Abstract Nemaline myopathy (NM) is a genetic muscle disease, primarily caused by mutations in the NEB gene ( NEB- NM) and with myosin dysfunction as major molecular pathogenic mechanism. Recently, we have observed that biochemical super-relaxed state was significantly impaired -NM, inducing an aberrant increase ATP consumption remodelling of energy proteome diseased fibres. As small-molecule Mavacamten known to promote reduce demand, here, tested its potency context -NM. We first conducted...
Abstract Nemaline myopathy (NM) is a genetic muscle disease, primarily caused by mutations in the NEB gene ( NEB‐ NM) and with myosin dysfunction as major molecular pathogenic mechanism. Recently, we have observed that biochemical super‐relaxed state was significantly impaired ‐NM, inducing an aberrant increase ATP consumption remodelling of energy proteome diseased fibres. Because small‐molecule Mavacamten known to promote reduce demand, tested its potency context ‐NM. We first conducted...