Quantitative proteomics and phosphoproteomics of PPP2R5D variants reveal deregulation of RPS6 phosphorylation through converging signaling cascades

Variants in the phosphoprotein phosphatase-2 regulatory protein-5D gene (PPP2R5D) cause the clinical phenotype of Jordan’s Syndrome (PPP2R5D-related disorder), which includes intellectual disability, hypotonia, seizures, macrocephaly, autism spectrum disorder and delayed motor skill development. The...

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Detalles Bibliográficos
Autores principales: KA, Smolen, CM, Papke, Swingle, MR, A, Musiyenko, C, Li, AD, Camp, RE, Honkanen, AN, Kettenbach
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10081281/
https://www.ncbi.nlm.nih.gov/pubmed/37034727
http://dx.doi.org/10.1101/2023.03.27.534397

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10081281/
https://www.ncbi.nlm.nih.gov/pubmed/37034727
http://dx.doi.org/10.1101/2023.03.27.534397

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