Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1)

Lucie Heurtier,Hicham Lamrini,Loïc Chentout,Marie-Céline Deau,Amine Bouafia,Jérémie Rosain,Jean-Marc Plaza,Mélanie Parisot,Benoit Dumont, Delphine Turpin,Etienne Merlin,Despina Moshous,Nathalie Aladjidi,Bénédicte Neven,Capucine Picard,Marina Cavazzana,Alain Fischer,Anne Durandy,Jean-Louis Stephan,Sven Kracker

HAEMATOLOGICA（2017）

引用 32|浏览25

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摘要

Class I phosphoinositide-3-kinases (PI3Ks) convert phosphoinositol-4,5-bisphosphate to phosphoinositol-3,4,5-trisphosphate, a lipid second messenger produced mainly at plasma membranes where it recruits and activates pleckstrin homology domain-containing proteins, including the well known protein

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