A5025870116- Genetics and Neurodevelopmental Disorders
- Neurogenesis and neuroplasticity mechanisms
- Autism Spectrum Disorder Research
- Neuroscience and Neuropharmacology Research
- Receptor Mechanisms and Signaling
- Cardiac electrophysiology and arrhythmias
- Ion channel regulation and function
- Congenital heart defects research
Korea Advanced Institute of Science and Technology
2022-2023
Abstract Autism spectrum disorders (ASD) represent neurodevelopmental characterized by social deficits, repetitive behaviors, and various comorbidities, including epilepsy. ANK2 , which encodes a neuronal scaffolding protein, is frequently mutated in ASD, but its vivo functions disease-related mechanisms are largely unknown. Here, we report that mice with Ank2 knockout restricted to cortical hippocampal excitatory neurons (Ank2-cKO mice) show ASD-related behavioral abnormalities juvenile...
Myelin transcription factor 1 like (Myt1l), a zinc-finger factor, promotes neuronal differentiation and is implicated in autism spectrum disorder (ASD) intellectual disability. However, it remains unclear whether Myt1l vivo its deficiency mice leads to disease-related phenotypes. Here, we report that Myt1l-heterozygous mutant (Myt1l-HT) display postnatal age-differential ASD-related phenotypes: newborn Myt1l-HT mice, with strong expression, show ASD-like transcriptomic changes involving...
SLC6A20A is a proline and glycine transporter known to regulate homeostasis NMDA receptor (NMDAR) function in the brain. A previous study found increases ambient levels receptor-mediated synaptic transmission brains of Slc6a20a-haploinsufficient mice, but it remained unknown whether Slc6a20a deficiency leads disease-related behavioral deficits mice. Here, we report that heterozygous homozygous mutant mice display differential phenotypes locomotor, repetitive behavioral, spatial fear memory...