C-terminal truncation and Parkinson's disease-associated mutations down-regulate the protein serine/threonine kinase activity of PTEN-induced kinase-1

By Sim Chou Hung   Lio Daisy Sio Seng   Mok Su San   Masters Colin L.   Hill Andrew F.   Culvenor Janetta G.   Cheng Heung-Chin  

Human Molecular Genetics, Vol. 15, Iss. 21, 2006-11 ,pp. : 3251-3262

Oxford University Press

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Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families

By Olsson H.  

Human Molecular Genetics, Vol. 10, Iss. 4, 2001-02 ,pp. : 353-360

Oxford University Press

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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

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Human Molecular Genetics, Vol. 14, Iss. 10, 2005-05 ,pp. : 1283-1292

Oxford University Press

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Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis

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Human Molecular Genetics, Vol. 10, Iss. 25, 2001-12 ,pp. : 2879-2887

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Mutations in the C-Terminal Domain of Sonic Hedgehog Cause Holoprosencephaly

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