Oxidative phosphorylation-related protein abundance

1. mTORopathies are associated with oxidative phosphorylation-related protein abundance in humans.

   “Proteomic profiling identified 44 differentially expressed proteins, including significant reductions in OXPHOS-related proteins (COX5B, NDUFS4, GOT2, RAB27B, and DKK3).”

   HumansmTORopathy brains compared with controlsbrain

   Comprehensive transcriptomic and proteomic profiling of mTOR-related epilepsy

   bioRxiv (Cold Spring Harbor Laboratory)·11 Mar 2026Preprint

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