Paradoxical dominant negative activity of an immunodeficiency-associated activating PIK3R1 variant

Paradoxical dominant negative activity of an immunodeficiency-associated activating PIK3R1 variant

PIK3R1 encodes three regulatory subunits of class IA phosphoinositide 3-kinase (PI3K), each associating with any of three catalytic subunits, namely p110α, p110β, or p110δ. Constitutional PIK3R1 mutations cause diseases with a genotype-phenotype relationship not yet fully explained: heterozygous los...

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Bibliographic Details
Main Authors: Patsy R Tomlinson, Rachel G Knox, Olga Perisic, Helen Su, Gemma V Brierley, Roger L Williams, Robert K Semple
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2025-01-01
Series:eLife
Subjects:
PIK3R1
immunodeficiency
APDS2
SHORT syndrome
insulin resistance
phosphoinositide 3-kinase
Online Access:https://elifesciences.org/articles/94420
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https://elifesciences.org/articles/94420

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