Article
Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.
Human molecular genetics - 1 Mar 2010
Gremer Lothar, De Luca Alessandro, Merbitz-Zahradnik Torsten, Dallapiccola Bruno, Morlot Susanne, Tartaglia Marco, Kutsche Kerstin, Ahmadian Mohammad Reza, Rosenberger Georg
Abstract excerpt
Costello syndrome (CS) is a developmental disorder characterized by postnatal reduced growth, facial dysmorphism, cardiac defects, mental retardation and skin and musculo-skeletal defects. CS is caused by HRAS germline mutations. In the majority of cases, mutations affect Gly(12) and Gly(13) and are associated with a relatively homogeneous phenotype. The same amino acid substitutions are well known as somatic...
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