Neurofibromatosis 1- NF1 BIOL 445 Alexa Schulman Gutmann et al. 2013.

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Neurofibromatosis 1- NF1 BIOL 445 Alexa Schulman Gutmann et al. 2013

NF1 Negatively Regulates Ras Rubin et al. 2005

NF1 is a GAP (GTPase Activating Protein) Lodish et al. Fig. 20-5

NF1 is therefore a Tumor Suppressor What does this mean? Gutmann et al. 2013

NF1 codes for the cytoplasmic protein neurofibromin Gutmann et al. 2013

Neurofibromin is necessary for many developmental pathways

Activation of the RTK pathway leads to increased proliferation and motility of NF1-/- Schwann cells and astrocytes

Tumor formation seems to require the presence of NF1+/- cells or another mutation such as TP53 Rubin et al. 2005

There are many different types of tumors associated with NF1

Neurofibromas are often numerous and removal can be tricky. Drugline.org

NF1-/- cells have increased sensitivity to TRAIL Reuss et al. 2013

References Gutmann, David H., Jaishri O. Blakeley, Bruce R. Korf, and Roger J. Packer. "Optimizing Biologically Targeted Clinical Trials for Neurofibromatosis." Informa Healthcare: Expert Opinion (2013) Reuss, David E., Jana Mucha, Christian Hagenlocher, Volker Ehemann, Lan Kluwe, Victor Mautner, and Andreas Von Deimling. "Sensitivity of Malignant Peripheral Nerve Sheath Tumor Cells to TRAIL Is Augmented by Loss of NF1 through Modulation of MYC/MAD and Is Potentiated by Curcumin through Induction of ROS." PLoS ONE 8.2 (2013) Rubin, Joshua B., and David H. Gutmann. "Opinion: Neurofibromatosis Type 1 — a Model for Nervous System Tumour Formation?" Nature Reviews Cancer 5.7 (2005): Tong, James Jiayuan, Samuel E. Schriner, David McCleary, Brian J. Day, and Douglas C. Wallace. "Life Extension through Neurofibromin Mitochondrial Regulation and Antioxidant Therapy for Neurofibromatosis-1 in Drosophila Melanogaster." Nature Genetics 39.4 (2007):