NDUFS1 (E4K3E) Rabbit mAb

NDUFS1 (NADH dehydrogenase Fe-S protein 1) is a nuclear encoded structural subunit of NADH: ubiquinone oxidoreductase (complex 1) in the mitochondrial electron transport chain (1). Mutations in NDUFS1 and other complex 1 subunits leading to mitochondrial dysfunction are associated with a number of neurological disorders (2-5). High-fat diet associated with type 2 diabetes leads to decreased expression of complex 1 subunits, including NDUFS1 (6). NDUFS1 is the target of cleavage by apoptotic caspases contributing to the loss of mitochondrial transmembrane potential, compromised mitochondrial respiration, increased mitochondrial reactive oxygen species (ROS) production, and loss of lysosomal integrity (7,8). NDUFS1 can also be cleaved by the lymphocyte protease granzyme B (9). Studies have also found that MDM2, which has a canonical role as an inhibitor of the tumor suppressor p53, can also sequester NDUFS1 in the cytoplasm, leading to respiratory dysfunction and increases in ROS (10). 1.Duncan, A.M. et al. (1992) Cytogenet Cell Genet 60, 212-3. 2.Petruzzella, V. et al. (2012) Adv Exp Med Biol 942, 371-84. 3.Pagniez-Mammeri, H. et al. (2012) Mol Genet Metab 105, 163-72. 4.Kashani, A. et al. (2014) Neurogenetics 15, 161-4. 5.Zhu, Y. et al. (2015) J Hum Genet 60, 11-6. 6.Sparks, L.M. et al. (2005) Diabetes 54, 1926-33. 7.Ricci, J.E. et al. (2004) Cell 117, 773-86. 8.Huai, J. et al. (2013) J Cell Sci 126, 4015-25. 9.Dildine, S.L. and Semler, B.L. (1989) J Virol 63, 847-62. 10.Elkholi, R. et al. (2019) Mol Cell 74, 452-465.e7.