Cells from people with fragile X syndrome overproduce — but don’t accumulate — proteins. New work suggests that excessive protein breakdown may account for this discrepancy, and explain some of the syndrome’s traits.
Spectrum: Autism Research News
Rare or common, inherited or spontaneous, mutations form the core of autism risk.
Inactivating TAOK1 prompts tentacle-like protrusions to form all over a neuron’s surface, revealing the gene’s role in molding the membrane.
Memories from Diering’s life trace the rising star’s scientific path from raising lizards as a child and later exploring home brewing to heading a lab that investigates memory, sleep disturbances and early development in animals with autism-linked mutations.
A new gene therapy approach for epilepsy tamps down neural activity on demand.
Rumbaugh, who studies how the autism-linked gene SYNGAP1 shapes brain development, describes how he has embraced coastal living and which aspects of his career he wouldn’t do over.
Having an infection during pregnancy is tied to a small increase in the chances of having an autistic child, but the connection may not be causal.
The in-depth approach shows mutations in the autism-linked gene disrupt neuronal growth and communication, as well as mitochondrial gene expression.
Within the 16p region of the genome, the two types of variants similarly decrease neuronal gene expression — an effect that may reflect their spatial relationship.
The model enables the study of autism-linked genes at the earliest stages of neural development.