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Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Mol+Cell+Biol 2007 ; 27 (22): 7765-70 Nephropedia Template TP
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Biochemical and Functional Characterization of Germ Line KRAS Mutations? #MMPMID17875937
Schubbert S; Bollag G; Lyubynska N; Nguyen H; Kratz CP; Zenker M; Niemeyer CM; Molven A; Shannon K
Mol Cell Biol 2007[Nov]; 27 (22): 7765-70 PMID17875937show ga
Germ line missense mutations in HRAS and KRAS and in genes encoding molecules that function up- or downstream of Ras in cellular signaling networks cause a group of related developmental disorders that includes Costello syndrome, Noonan syndrome, and cardiofaciocutaneous syndrome. We performed detailed biochemical and functional studies of three mutant K-Ras proteins (P34R, D153V, and F156L) found in individuals with Noonan syndrome and cardiofaciocutaneous syndrome. Mutant K-Ras proteins demonstrate a range of gain-of-function effects in different cell types, and biochemical analysis supports the idea that the intrinsic Ras guanosine nucleotide triphosphatase (GTPase) activity, the responsiveness of these proteins to GTPase-activating proteins, and guanine nucleotide dissociation all regulate developmental programs in vivo.