A5023404654- Cellular transport and secretion
- Neuroscience and Neuropharmacology Research
- Mitochondrial Function and Pathology
- Retinal Development and Disorders
- Genetic Neurodegenerative Diseases
University of Valparaíso
2020-2025
Objective Autosomal dominant centronuclear myopathy (AD-CNM) is a neuromuscular congenital disease caused by mutations in the DNM2 gene that encodes dynamin-2 (DNM2). The main clinical features of AD-CNM are progressive weakness and atrophy skeletal muscles. However, cognitive defects have also been reported, suggesting AD-CNM-causing might affect central nervous system (CNS). We recently demonstrated excitatory synaptic transmission occur brain transgenic knock-in (KI) mice harboring...
Abstract Aims Dynamin‐2 is a large GTPase, member of the dynamin superfamily that regulates membrane remodelling and cytoskeleton dynamics. Mutations in dynamin‐2 gene ( DNM2 ) cause autosomal dominant centronuclear myopathy (CNM), congenital neuromuscular disorder characterised by progressive weakness atrophy skeletal muscles. Cognitive defects have been reported some ‐linked CNM patients suggesting these mutations can also affect central nervous system (CNS). Here we studied how...
Abstract Dynamin-2 is a large GTP-ase, member of the dynamin superfamily, that regulates membrane remodeling and cytoskeleton dynamics. In mammalian nervous system dynamin-2 modulates synaptic vesicle (SV)-recycling at nerve terminals receptor-trafficking to from postsynaptic densities (PSDs). Mutations in cause autosomal dominant centronuclear myopathy (CNM), congenital neuromuscular disorder characterized by progressive weakness atrophy distal skeletal muscles. Cognitive defects have also...