Mutations in FMR1, the gene encoding fragile X messenger ribonucleoprotein 1 (FMRP), located at Xq27.3 and discovered in 1991, are the leading single-gene causes of autism and intellectual disability.
Researchers have developed an innovative new nanopore sequencing assay to identify carriers of fragile X syndrome (FXS), the leading cause of monogenic autism spectrum disorder and inherited ...
UC Davis MIND Institute researchers Randi and Paul Hagerman are calling for increased awareness and screening for fragile X-associated conditions. In a new paper published in the New England Journal ...
After its cannabidiol gel candidate failed a phase 3 trial in fragile X syndrome, Harmony Biosciences has now paused development of the asset in a different genetic disease. Harmony announced in ...
A new study shows that enhancing activity of a specific component of 'NMDA' receptors normalizes protein synthesis, neural activity and seizure susceptibility in the hippocampus of fragile X lab mice.
Observations of the small protrusions that line the dendrites of neurons, called spines, were critical in understanding the function of NMDA receptors in the new study, as well as a precursor to the ...