Spinal Muscular Atrophy Treatment: The MTOR Regulatory Intervention.

Abstract

mTOR: mammalian/mechanistic target of rapamycin; SMA: spinal muscular atrophy; IGF-1R: insulin-like growth factor type 1 receptor; FOXO3A: Forkhead box class O 3A; eIF4EBP1: eukaryotic translation initiation factor 4E-binding protein 1; Atrogin-1 (FBOX32): atrophy gene-1 (F-box only protein 32); TRAF2: TNF receptor-associated factor 2; p38 (MAPK14): p38 (mitogen-activated protein kinase 14); RRAS2: RAS related 2; ERK (MAPK1): extracellular signal-regulated kinase 1/2 (mitogen-activated protein kinase 1); SBMA: spinal and bulbar muscular atrophy; SMN: survival motor neuron; Akt: protein kinase B; MAFbx/atrogin-1: muscle atrophy F-box; MuRF-1: muscle RING-finger protein-1; WT: wild-type; GC-KLF15-BCAA: circadian glucocorticoid-Krüppel-like factor 15-branched-chain amino acid; SBMA: spinal and bulbar muscular atrophy; PGC1α: proliferator-activated receptor γ coactivator 1 alpha CTRP3: C1q/TNF-related protein 3; SMN: survival motor neuron; VEGF: vascular endothelial growth factor; PTEN: phosphatase and tensin homolog.