Research on fragile X syndrome, the most common inherited cause of mental retardation, has focused mostly on how the genetic defect alters the functioning of neurons in the brain. A new study focusing ...
FRAXA's early preclinical support helped establish the calcium-activated potassium ("BK") channel modulator mechanism behind SPG601. FRAXA also supported the development of another BK channel ...
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.
Until recently, scientists thought they understood one of the underlying causes of fragile X syndrome, the most common inherited cause of intellectual disability in the United States. The syndrome, ...
Fragile X syndrome is the most common inherited cause of intellectual disability and the leading single‑gene contributor to autism, and there is a very good mouse model for it (because it reproduces ...
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