Elia Di Schiavi

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N-myristoylation is a common form of co-translational protein fatty acylation resulting from the attachment of myristate to a required N-terminal glycine residue. We show that aberrantly acquired N-myristoylation of SHOC2, a leucine-rich repeat–containing protein that positively modulates RAS-MAPK signal flow, underlies a clinically distinctive condition of(More)
Kallmann Syndrome is a heritable disorder characterized by congenital anosmia, hypogonadotropic hypogonadism and, less frequently, by other symptoms. The X-linked form of this syndrome is caused by mutations affecting the KAL1 gene that codes for the extracellular protein anosmin-1. Investigation of KAL1 function in mice has been hampered by the fact that(More)
Kallmann syndrome (KS) is characterized by hypogonadotropic hypogonadism and inability to smell (anosmia), owing to impaired targeting and migration of olfactory axons and gonadotropin-releasing hormone (GnRH)-secreting neurons (Kallmann, 1944). During normal development, olfactory neurons project their axons through the cribriform plate and the meningeal(More)
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