Article
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.
Nature genetics - 1 Sept 2009
Cordeddu Viviana, Di Schiavi Elia, Pennacchio Len A, Ma'ayan Avi, Sarkozy Anna, Fodale Valentina, Cecchetti Serena, Cardinale Alessio, Martin Joel, Schackwitz Wendy, Lipzen Anna, Zampino Giuseppe, Mazzanti Laura, Digilio Maria C, Martinelli Simone, Flex Elisabetta, Lepri Francesca, Bartholdi Deborah, Kutsche Kerstin, Ferrero Giovanni B, Anichini Cecilia, Selicorni Angelo, Rossi Cesare, Tenconi Romano, Zenker Martin, Merlo Daniela, Dallapiccola Bruno, Iyengar Ravi, Bazzicalupo Paolo, Gelb Bruce D, Tartaglia Marco
Abstract excerpt
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 the neuro-cardio-facial-cutaneous disorders family....
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