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Fragile X syndrome

Ribosomal protein S6 kinase 70 kDa polypeptide 1 (RPS6KB1; S6K1); fragile X mental retardation 1 (FMR1)

Mouse studies suggest inhibiting S6K1 could help treat fragile X syndrome. Phosphorylation of the FMR1 kinase S6K1 is greater in lymphocytes and brain tissue from patients with fragile X syndrome than in samples from healthy controls. In an Fmr1 knockout mouse model for fragile X syndrome, S6k1 deficiency decreased abnormal neuron morphology and social interaction deficits and increased motor skills and new object recognition compared with normal S6k1 expression. The deficiency also reduced weight gain and macroorchidism. Ongoing work includes testing an S6K1 inhibitor in the Fmr1 knockout model for fragile X syndrome.

SciBX 5(42); doi:10.1038/scibx.2012.1118
Published online Oct. 25, 2012

Unpatented; available for licensing or partnering

Bhattacharya, A. et al. Neuron; published online Oct. 18, 2012;
Contact: Eric Klann, New York University, New York, N.Y.