Elena Torban, PhD
planar cell polarity pathway • pathogenesis of human disease • kidney development and disease • focal segmental glomerulosclerosis • neural tube defects
My research focuses on molecular and cellular mechanisms underlying genetic and acquired kidney and brain diseases in human subjects and in mice. Our lab is mainly interested in elucidating the role of the novel planar cell polarity (PCP) pathway in mammalian development and disease. We focus on 3 projects: The role of PCP gene Vangl2 in development of specialized kidney cells (podocytes) and nephrotic syndrome and focal segmental glomerulosclerosis; the role of PCP genes in formation of cilia and how defects in these genes cause human disease including neural tube defects, and kidney malformations; the molecular and cellular mechanisms of idiopathic primary FSGS in human subjects. This last project has a very strong translational component designed to quickly transform results obtained in our lab to the clinical practice. We employ a wide range of techniques including genetic screening of human DNA and serum samples, molecular biology, protein interactions, creation and analysis of the transgenic mice, tissue culture, immunochemistry and microscopy. Our ultimate goal is to better understand the pathogenic mechanisms which underlie congenital and acquired diseases of brain and kidneys in humans.
Rocque BL, Babayeva S, Li J, Leung V, Nezvitsky L, Cybulsky AV, Gros P, Torban E. Deficiency of the planar cell polarity protein Vangl2 in podocytes affects glomerular morphogenesis and increases susceptibility to injury. J Am Soc Nephrol. 2015;26(3):576-86. PMID: 25145929.
Babayeva S, Rocque B, Zilber Y, Li J, Aoudjit L, Takano T and Torban E (2013). Planar cell polarity pathway regulates nephrin endocytosis in cultured podocytes, Journal of Biological Chemistry. 288(33) :24035-48. PMID: 23824190.
Zilber Y, Seo JH, Babayeva S, Liu JJ, Mootin S and Torban E (2013). Planar cell polarity gene Fuzzy controls ciliary formation and signaling by recruiting Rab8 and Dvl2 to the primary cilium. Molecular Biology of Cell. 24(5):555-65. PMID: 23303251.
Bitzan M, Babayeva S, Vasudevan A, Goodyer P, and Torban E (2012). Blockage of TNFa pathway ameliorates toxic effects of recurrent FSGS plasma on podocyte cytoskeleton and adhesion. Paediatric Nephrology. 27(12):2217-26. PMID: 22538781.
Seo JH, Zilber Y, Babayeva S, Liu JJ, Kiriakopoulas P, De Marco P, Merello E, Capra V, Gros P, and Torban E (2011). Mutations in the planar cell polarity gene, Fuzzy, are associated with the Neural Tube defects in humans, Human Molecular Genetics. 20(22):4324-33. PMID: 21840926.