Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS)

Abidi, Fatima; Jacquot, Sylvie; Lassiter, Christopher S.; Trivier, Elizabeth; Hanauer, André; Schwartz, Charles E.

doi:10.1038/sj.ejhg.5200231

Cited by 26 publications

(19 citation statements)

References 16 publications

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“…Despite these similarities, substantial evidence indicates a functional independence of the individual RSK family members. First, none of the RSKs complements deficient RSK2 in CLS (46) and possibly RSK4 in XLMR (48). Second, while RSK1-3 are activated through ERK, RSKB, as shown by its responses to MAPKs, effects of SB202190 and PD98059, and direct activation in vitro, mainly depended on p38 and to a lesser extent ERK (61,63).…”

Section: Discussionmentioning

confidence: 99%

Control Sites of Ribosomal S6 Kinase B and Persistent Activation through Tumor Necrosis Factor

Tomás-Zuber¹,

Mary²,

Lesslauer³

2000

Journal of Biological Chemistry

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phosphorylation persisted for 3 h in tumor necrosis factor-treated cells, in contrast to the short bursts of p38, ERK, and RSK1-3 activities. In conclusion, a variety of stimuli induced phosphorylation and activation of RSKB through both p38 and ERK pathways; the persistence of activation indicated that RSKB selectively escaped cell mechanisms causing rapid deactivation of upstream p38 and ERK and other RSKs.

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Section: Discussionmentioning

confidence: 99%

Control Sites of Ribosomal S6 Kinase B and Persistent Activation through Tumor Necrosis Factor

Tomás-Zuber¹,

Mary²,

Lesslauer³

2000

Journal of Biological Chemistry

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“…Intragenic deletions, nonsense and splice-site mutations in the rsk gene mapped to Xp22.2 were shown to be associated with CLS (Coffin-Lowry syndrome) in human, an X-linked disorder characterized by facial dysmorphism, digit abnormalities and severe psychomotor retardation [40,41]. RSK was also found to be an important activator of tumor generation.…”

Section: Discussionmentioning

confidence: 96%

Increased Membrane/Nuclear Translocation and Phosphorylation of p90 KD Ribosomal S6 Kinase in the Brain of Hypoxic Preconditioned Mice

Huang

et al. 2007

Neurochem Res

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Our previous studies have demonstrated that hypoxic precondition (HPC) increased membrane translocation of protein kinase C isoforms and decreased phosphorylation of extracellular signal-regulated kinase 1/2 (ERK1/2) in the brain of mice. The goal of this study was to determine the involvement of p90 KD ribosomal S6 kinase (RSK) in cerebral HPC of mice. Using Western-blot analysis, we found that the levels of membrane/nuclear translocation, but not protein expression of RSK increased significantly in the frontal cortex and hippocampus of HPC mice. In addition, we found that the phosphorylation levels of RSK at the Ser227 site (a PDK1 phosphorylation site), but not at the Thr359/Ser363 sites (ERK1/2 phosphorylated sites) increased significantly in the brain of HPC mice. Similar results were confirmed by an immunostaining study of total RSK and phospho-Ser227 RSK. To further define the cellular populations to express phospho-Ser227 RSK, we found that the expression of phospho-Ser227 RSK co-localized with neurogranin, a neuron-specific marker, in cortex and hippocampus of HPC mice by using double-labeled immunofluorescent staining method. These results suggest that increased RSK membrane/nuclear translocation and PDK1 mediated neuron-specific phosphorylation of RSK at Ser227 might be involved in the development of cerebral HPC of mice.

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“…Subsequently, disease causing mutations have been described in the ribosomal protein S6 kinase (RSK2). [4][5][6] A wide range of different types of mutations have been described, distributed throughout the gene, many associated with premature translation termination, and most associated with predicted loss of function of the mutant allele. 6 The application of these findings in clinical practice has served not just to expand the understanding of the mutational basis of the classical syndrome, but has also shown that atypical, mild forms of Coffin-Lowry syndrome exist.…”

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confidence: 99%

“…7 Despite these occasional clinical surprises, most patients harbouring pathogenic mutations of the RSK2 locus have shown clinical characteristics consistent with those expected in Coffin-Lowry syndrome. 5 However, as established by a recent mutational screen in 250 patients clinically suggestive of Coffin-Lowry syndrome, mutations are found in by no means all such patients. 6 Indeed mutations were not identified in 66% of patients included in the mutation studies.…”

mentioning

confidence: 99%