Article

Divergent signaling profiles in mTOR gain-of-function Smith-Kingsmore syndrome (SKS) and TSC2 deficiency

2026-05-13

Abstract excerpt

Smith-Kingsmore syndrome (SKS) is a rare neurodevelopmental disorder caused by gain-of-function mutations in MTOR , yet whether these mutations phenocopy TSC2 loss or establish a distinct signaling state remains unclear. Using quantitative proteomics, phosphoproteomics, and transcriptomics in isogenic cell models of SKS ( MTOR Δ4aa ), TSC2 loss ( TSC2 −/– ), and wild-type controls under glucose depletion and...

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Literature Corpus work: 478a5c23-c25d-5eef-8358-d228278fc5b7
DOI: 10.64898/2026.05.09.724025

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