Article
Structural and mechanistic insights into LEOPARD syndrome-associated SHP2 mutations.
The Journal of biological chemistry - 12 Apr 2013
Yu Zhi-Hong, Xu Jie, Walls Chad D, Chen Lan, Zhang Sheng, Zhang Ruoyu, Wu Li, Wang Lina, Liu Sijiu, Zhang Zhong-Yin
Abstract excerpt
SHP2 is an allosteric phosphatase essential for growth factor-mediated Ras activation. Germ-line mutations in SHP2 cause clinically similar LEOPARD and Noonan syndromes, two of several autosomal-dominant conditions characterized by gain-of-function mutations in the Ras pathway. Interestingly, Noonan syndrome SHP2 mutants are constitutively active, whereas LEOPARD syndrome SHP2 mutants exhibit reduced phosphatase...
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