RSK2 is a member of the RSK (ribosomal S6 kinase) family that consists of growth factor-regulated serine/threonine kinases. RSK2 has been shown to mediate growth factor signaling via RAS and MAPK leading to the induction of CREB serine-133 phosphorylation and activation of gene expression. Mutations in RSK2 have been shown to be responsible for Coffin-Lowry syndrome (CLS) which is a X-linked disorder characterized by severe psychomotor retardation, facial and digital dysmorphisms, and progressive skeletal deformations.
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American journal of human genetics, 63(6), 1631-1640 (1998-12-05)
Coffin-Lowry syndrome (CLS) is an X-linked disorder characterized by severe psychomotor retardation, facial and digital dysmorphisms, and progressive skeletal deformations. By using a positional cloning approach, we have recently shown that mutations in the gene coding for the RSK2 serine-threonine
Science (New York, N.Y.), 273(5277), 959-963 (1996-08-16)
A signaling pathway has been elucidated whereby growth factors activate the transcription factor cyclic adenosine monophosphate response element-binding protein (CREB), a critical regulator of immediate early gene transcription. Growth factor-stimulated CREB phosphorylation at serine-133 is mediated by the RAS-mitogen-activated protein
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