Associated Papers
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4
15 years of PhosphoSitePlus®: integrating post-translationally modified sites, disease variants and isoforms.
Hornbeck PV et al.
Nucleic Acids Research, 2019
30445427 (PubMed )
Supplement: gky1159_supplemental_files.xlsx › SupplT1
RSK2 drives cell motility by serine phosphorylation of LARG and activation of Rho GTPases.
Shi GX et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
The Coffin-Lowry syndrome-associated protein RSK2 is implicated in calcium-regulated exocytosis through the regulation of PLD1.
Zeniou-Meyer M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2008
Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome.
Zeniou M et al.
American Journal of Human Genetics, 2002
Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.
Delaunoy J et al.
Human Mutation, 2001
Activation of RSK by UV-light: phosphorylation dynamics and involvement of the MAPK pathway.
Mérienne K et al.
Oncogene, 2000
Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS).
Abidi F et al.
European Journal of Human Genetics : Ejhg, 1999
Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations.
Jacquot S et al.
American Journal of Human Genetics, 1998
Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome.
Merienne K et al.
Journal of Medical Genetics, 1998
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