A specific and direct involvement of Elavl1 (i.e., HuR antigen) has been shown in cases of Fragile X Syndrome, in which mutations in the 3′UTR of FMR1 abrogate a Elavl1/HuR binding site (Collins et al., 2010; Suhl et al., 2015). The gene discussed is FMR1; the disease is fragile X syndrome.