The mutations disrupt protein translation as well as the cell’s skeleton, according to a new study.
Spectrum: Autism Research News
Tag: synaptic plasticity
Increasing or reducing the levels of the UBE3A gene, which is associated with autism and autism-related syndromes, results in altered patterns of synaptic pruning — a process that snips away brain cell connections.
Synaptic changes in the brain region could drive a core trait of fragile X syndrome, a new mouse study suggests.
The discovery could help clinicians diagnose children who carry mutations in the gene, called SCN2A, and gauge their responses to potential therapies.
The drugs may reopen a critical window during development in which the brain can more easily adjust its connections.
Oxytocin therapies have failed to consistently benefit autistic people, but their effects in people with two autism-linked conditions may yield new insights, experts argue.
An overabundance of ribosomes drives an imbalance of proteins produced from long and short genetic transcripts in a mouse model of fragile X syndrome.
Neurons with a faulty copy of SETD1A, a gene tied to autism and schizophrenia, show structural abnormalities and altered connectivity patterns.
Ramping up levels of one isoform of the autism-linked protein reverses traits in model mice, a new study shows.