Steve Warren co-discovered the genetic mechanism that underpins fragile X syndrome and was a generous, inspiring mentor to many.
Spectrum: Autism Research News
Rare or common, inherited or spontaneous, mutations form the core of autism risk.
Inhibiting a protein that helps cells move or change shape prevents atypical neuronal migration in 3D clusters of brain cells carrying autism-linked genetic variants.
Altered electrical activity in the neurons of mice with a mutated copy of SCN2A may explain the animals’ autism-like social behaviors.
Brain responses to visual stimuli are smaller and weaker in children with Phelan-McDermid syndrome, an autism-linked genetic condition, than in non-autistic children.
Mice with autism- or schizophrenia-linked mutations only in the anterodorsal thalamus have problems with long-term and working memory.
Mounting evidence suggests that autism often involves upsets in homeostatic plasticity, a set of processes neurons use to stabilize their activity. These disruptions result from a range of autism-linked mutations and may help to explain the condition’s famed heterogeneity.
Most autistic people do not receive the medically recommended genetic tests for autism. Brenda Finucane and her colleagues want to change that.
Brain cells from the cerebellums of mice that model tuberous sclerosis show dampened levels of proteins controlled by FMRP, the protein missing in fragile X syndrome.
When Holly Stessman isn’t probing autism genes, she is tending to her flock of chickens or seeking out the next great sci-fi movie.
Integrating genetic analyses into studies of babies’ brain development could help us understand how autism-related genes contribute to autism traits.