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.
Spectrum: Autism Research News
Long known as the director of movement, the cerebellum may also coordinate social and cognitive abilities, including those central to autism.
Blocking one form of an enzyme implicated in autism eases unusual behaviors and seizures in mice missing a top autism gene.
Tuberous sclerosis provides a unique opportunity to understand autism because about half of people with that single-gene condition also have autism.
David and Bernardo Sabatini, brothers born just a year and a half year apart, invent their way to answering big questions about autism.
The drug rapamycin, which is in clinical trials as a treatment for tuberous sclerosis, may exacerbate features of fragile X syndrome, another condition related to autism.
A drug called rapamycin prevents seizures in a mouse model of the autism-related condition tuberous sclerosis complex.
A treatment that targets the genetic defect in tuberous sclerosis prevents autism-like symptoms in mice at 6 weeks of age — the mouse equivalent of adolescence. Researchers presented the unpublished results yesterday at the 2014 Society for Neuroscience annual meeting in Washington, D.C.