A5001863444- Genetics and Neurodevelopmental Disorders
- Neurogenesis and neuroplasticity mechanisms
- Pluripotent Stem Cells Research
- Neuroscience and Neuropharmacology Research
- Phosphodiesterase function and regulation
- Lysosomal Storage Disorders Research
- CRISPR and Genetic Engineering
- Epigenetics and DNA Methylation
- Mitochondrial Function and Pathology
- RNA Research and Splicing
- Congenital heart defects research
- Electron Spin Resonance Studies
National Taiwan University
2015-2024
Abstract RBFOX3 mutations are linked to epilepsy and cognitive impairments, but the underlying pathophysiology of these disorders is poorly understood. Here we report replication human symptoms in a mouse model with disrupted Rbfox3 . knockout mice displayed increased seizure susceptibility decreased anxiety-related behaviors. Focusing on hippocampal phenotypes, found showed expression plasticity genes Egr4 Arc synaptic transmission were defective mutant perforant pathway. The dentate...
Dysfunction of RBFOX3 has been identified in neurodevelopmental disorders such as autism spectrum disorder, cognitive impairments and epilepsy a causal relationship with these diseases previously demonstrated Rbfox3 homozygous knockout mice. Despite the importance during neurodevelopment, function regarding neurogenesis synaptogenesis remains unclear. To address this critical question, we profiled developmental expression pattern brain wild-type mice analyzed volume, disease-relevant...
Epilepsy is a common neurological disorder, which has been linked to mutations or deletions of RNA binding protein, fox-1 homolog ( Caenorhabditis elegans ) 3 RBFOX3 )/ NeuN , neuronal splicing regulator. However, the mechanism seizure mediation by remains unknown. Here, we show that mice with deletion Rbfox3 in gamma-aminobutyric acid (GABA) ergic neurons exhibit spontaneous seizures and high premature mortality due increased presynaptic release, postsynaptic potential, excitability,...
Mucopolysaccharidosis (MPS) type II is caused by a deficiency of iduronate-2-sulfatase and characterized the accumulation glycosaminoglycans (GAGs). Without effective therapy, severe form MPS causes progressive neurodegeneration death. This study generated multiple clones induced pluripotent stem cells (iPSCs) their isogenic controls (ISO) from four patients with neurodegeneration. II-iPSCs were successfully differentiated into cortical neurons characteristic biochemical cellular phenotypes,...
ABSTRACT Precise genome manipulation in specific cell types and subtypes vivo is crucial for neurobiological research because of the cellular heterogeneity brain. Site-specific recombinase systems mouse, such as Cre-loxP, improve type-specific manipulation; however, undesirable expression Cre can occur. This could be due to transient during early development, natural more than one type, kinetics recombinases, sensitivity reporter, disruption cis-regulatory elements by transgene insertion....