Protein complex points to new route to Rett syndrome
Mutations in a newly identified protein complex that interacts with the Rett protein also lead to a Rett-like condition in mice, researchers say.
Mutations in a newly identified protein complex that interacts with the Rett protein also lead to a Rett-like condition in mice, researchers say.
The Rett Syndrome Global Registry is gathering data from people around the world with the rare condition to support clinical trials.
A basic scientist at heart, Hollis Cline has spent decades pushing the boundaries of what researchers can see in the brain. Her persistence has led to a deeper understanding of how some autism-linked genes influence brain development.
Girls and young women with Rett syndrome have less severe anxiety and breathing problems after treatment with trofinetide, an analogue of insulin-like growth factor 1, according to an unpublished placebo-controlled trial.
A MECP2 gene therapy for Rett syndrome eases repetitive behaviors, anxiety and hyperactivity in a mouse model of Pitt-Hopkins syndrome.
These short reports from Spectrum journalists highlight some of the autism-related findings that caught our attention at the meeting this past week.
Neurons in mice with an autism-linked mutation sprout extraneous protrusions, an overgrowth accompanied by above-average motor learning. Inhibiting a cell signaling pathway reverses the effect.
Over the course of a career spanning more than three decades, Huda Zoghbi has won almost every major biology and neuroscience research award that exists. More than 20 years since she discovered the gene behind Rett syndrome, she remains laser focused on unlocking the condition’s secrets and finding effective treatments.
Methods that selectively increase levels of the Rett protein make for safer and more effective treatment strategies, some researchers say.
Motor and memory training early in life postpones the onset of difficulties in those areas in a mouse model of Rett syndrome, and stimulating neurons involved in those skills appears to mimic the effects of training.