Article
Functional analysis of Peutz-Jeghers mutations reveals that the LKB1 C-terminal region exerts a crucial role in regulating both the AMPK pathway and the cell polarity.
Human molecular genetics - 15 May 2005
Forcet Christelle, Etienne-Manneville Sandrine, Gaude Hélène, Fournier Laurence, Debilly Sébastien, Salmi Marko, Baas Annette, Olschwang Sylviane, Clevers Hans, Billaud Marc
Abstract excerpt
Germline mutations of the LKB1 gene are responsible for the cancer-prone Peutz-Jeghers syndrome (PJS). LKB1 encodes a serine-threonine kinase that acts as a regulator of cell cycle, metabolism and cell polarity. The majority of PJS missense mutations abolish LKB1 enzymatic activity and thereby impair all functions assigned to LKB1. Here, we have investigated the functional consequences of recurrent missense...
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