Somatic PIK3R1 mutations in the iSH2 domain are accessible to PI3Kα inhibition

Somatic PIK3R1 mutations in the iSH2 domain are accessible to PI3Kα inhibition

Abstract Mutations in PIK3R1 have recently been identified in patients with overgrowth syndromes and complex vascular malformations. PIK3R1 encodes p85α which acts as the regulatory subunit of the lipid kinase PI3Kα. PIK3R1 mutations result in the excessive activation of the AKT/mTOR pathway. Curren...

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Main Authors: Gabriel Morin, Alexandre P Garneau, Nabiha Bouzakher, Louise Ségot, Antoine Fraissenon, Amélie Blondel, Florence Petit, Caroline Chopinet, Franck Mayeux, Pierre Fayoux, Anne Dompmartin, Christine Bodemer, Estelle Balducci, Sophie Kaltenbach, Patrick Villarese, Vahid Asnafi, Christophe Legendre, Christine Broissand, Sylvie Fraitag, Chloé Quelin, Nicolas Goudin, Laurent Guibaud, Guillaume Canaud
Format: Article
Language:English
Published: Springer Nature 2025-05-01
Series:EMBO Molecular Medicine
Subjects:
PIK3R1-Related Disorders
p85
Vascular Malformations
Overgrowth Syndrome
Alpelisib
Online Access:https://doi.org/10.1038/s44321-025-00249-9
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https://doi.org/10.1038/s44321-025-00249-9

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