Duplication of Glu 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
نویسندگان
چکیده
Institute of Biochemistry and Molecular Biology II, Heinrich Heine University Medical Center, 40225 Düsseldorf, Germany, Casa Sollievo della Sofferenza (CSS) Hospital, IRCCS, 71013 San Giovanni Rotondo, Italy, Praxis für Humangenetik, MVZ wagnerstibbe, 30159 Hannover, Germany, Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome, Italy and Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany
منابع مشابه
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.
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 k...
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Costello syndrome is a congenital disorder comprising a characteristic face, severe feeding difficulties, skeletal, cardiac and skin abnormalities, intellectual disability and predisposition to malignancies. It is caused by heterozygous germline HRAS mutations mostly affecting Gly(12) or Gly(13), which impair HRAS-GTPase activity and result in increased downstream signal flow independent of inc...
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