The present application relates to Fragile X syndrome and the treatment thereof. It was found that ADAM10 (A Disintegrin And Metalloproteinase domain10), the most likely candidate for α-secretase, involved in proteolytic cleavage of APP at the plasma membrane, was upregulated in Fmr1 KO mice, a model for Fragile X disease. Moreover, it could be shown that reducing ADAM10 activityin vitro and in vivo, improves the Fragile X phenotype, i.a. by rescuing spine dysmorphogenesis and exaggerated mGluR-dependent LTD.
ADAM10 inhibition to treat Fragile X syndrome / C. Bagni, E. Pasciuto, M.M.G. Diluca, E. Marcello, F. Gardoni.
ADAM10 inhibition to treat Fragile X syndrome
M.M.G. Diluca;E. Marcello;F. Gardoni
2015
Abstract
The present application relates to Fragile X syndrome and the treatment thereof. It was found that ADAM10 (A Disintegrin And Metalloproteinase domain10), the most likely candidate for α-secretase, involved in proteolytic cleavage of APP at the plasma membrane, was upregulated in Fmr1 KO mice, a model for Fragile X disease. Moreover, it could be shown that reducing ADAM10 activityin vitro and in vivo, improves the Fragile X phenotype, i.a. by rescuing spine dysmorphogenesis and exaggerated mGluR-dependent LTD.
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