Excessive protein degradation is identified as a new cellular pathology and a potential target for therapeutic intervention in fragile X syndrome
In a mouse model of fragile X syndrome, Emily Osterweil and her colleagues show that excessive protein synthesis drives a pathological compensatory rise in protein degradation (by the ubiquitin proteasome system), which can be targeted to correct various phenotypes including audiogenic seizures.
A novel eye-tracking paradigm identifies an influence of perceptual load on social attention in autism
A study by Caroline Robertson and her colleagues found that reduced social attention was not a static omnipresent characteristic of autism; rather, it was magnified only under certain real-world conditions where sensory processing demands were high.
A new approach to analyzing genomic association data finds convergence of both rare and common genetic influences on autism at chromosome 16p
Elise Robinson and colleagues identified a large genomic region — chromosome 16p — where a rare 16p11.2 variant associated with autism functionally converges with common polygenic variation across 16p. Both rare and common genetic variation at 16p decreased expression of neuronally expressed genes, with relevance for increasing autism risk.