Article
Metabolic and behavioral effects of neurofibromin result from differential recruitment of MAPK and mTOR signaling.
PLoS genetics - 1 Mar 2026
Botero Valentina, Barrios Jenifer, Knauss Anneke, Dahlen Greta, Rosendahl Ethan, Colodner Kenneth J, Tomchik Seth M
Abstract excerpt
Neurofibromatosis type 1 results from mutations in the NF1 gene and its encoded neurofibromin protein. This condition produces multiple symptoms, including tumors, behavioral alterations, and metabolic changes. Molecularly, neurofibromin mutations affect Ras activity, influencing multiple downstream signaling pathways, including MAPK (Raf/MEK/ERK) and PI3K/Akt/mTOR signaling. This pleiotropy raises the question...
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