Research in my laboratory is focused on deciphering the molecular mechanisms required for normal brain development and how disruptions of these processes lead to malformations of the cerebral cortex.  Children with such aberrations typically suffer from severe seizure disorders (epilepsy) as well as severe cognitive and behavioral problems such as autism.  To approach these complex neurologic disorders, we have been studying tuberous sclerosis complex (TSC), a disease that prominently features cortical malformations and is caused by loss of either the TSC1 or TSC2 genes. TSC is quite prevalent and is the most common genetic cause of seizures and autism in children.  Our previous investigations led us to hypothesize that the TSC1/2 genes are essential for neural progenitor cell function able to impact the differentiation and migration of neurons and glia.  Abnormalities of these developmental processes may cause the cortical malformations in TSC that underlie epilepsy as well as autism in these patients.  To study these complicated abnormalities of the human brain, we have generated experimental models of TSC using genetically engineered mice as well as in vitro progenitor cell systems including patient-derived induced pluripotent stem cells (iPSCs).  The ability to manipulate TSC1 or TSC2 gene expression in mouse or human progenitor cells allows us to determine the role of these genes during neuronal and glial cell specification, differentiation, and migration.  Our long term goal is to use these models to precisely define the molecular pathways used by the TSC1/2 genes during human brain development.  This knowledge will facilitate the development of rational and hopefully more efficacious therapies for children who suffer from epilepsy or autism.


Featured publications

  1. Multi-organ abnormalities and mTORC1 activation in zebrafish model of multiple acyl-CoA dehydrogenase deficiency. Kim SH, Scott SA, Bennett MJ, Carson RP, Fessel J, Brown HA, Ess KC (2013) PLoS Genet 9(6): e1003563
    › Primary publication · 23785301 (PubMed) · PMC3681725 (PubMed Central)
  2. Patient heal thyself: modeling and treating neurological disorders using patient-derived stem cells. Ess KC (2013) Exp Biol Med (Maywood) 238(3): 308-14
    › Primary publication · 23598977 (PubMed) · PMC3784026 (PubMed Central)
  3. Heterozygous inactivation of tsc2 enhances tumorigenesis in p53 mutant zebrafish. Kim SH, Kowalski ML, Carson RP, Bridges LR, Ess KC (2013) Dis Model Mech 6(4): 925-33
    › Primary publication · 23580196 (PubMed) · PMC3701212 (PubMed Central)
  4. Autophagy induction is a Tor- and Tp53-independent cell survival response in a zebrafish model of disrupted ribosome biogenesis. Boglev Y, Badrock AP, Trotter AJ, Du Q, Richardson EJ, Parslow AC, Markmiller SJ, Hall NE, de Jong-Curtain TA, Ng AY, Verkade H, Ober EA, Field HA, Shin D, Shin CH, Hannan KM, Hannan RD, Pearson RB, Kim SH, Ess KC, Lieschke GJ, Stainier DY, Heath JK (2013) PLoS Genet 9(2): e1003279
    › Primary publication · 23408911 (PubMed) · PMC3567153 (PubMed Central)
  5. Conditional and domain-specific inactivation of the Tsc2 gene in neural progenitor cells. Fu C, Ess KC (2013) Genesis 51(4): 284-92
    › Primary publication · 23359422 (PubMed) · PMC3633697 (PubMed Central)
  6. Genetic risk for Parkinson's disease correlates with alterations in neuronal manganese sensitivity between two human subjects. Aboud AA, Tidball AM, Kumar KK, Neely MD, Ess KC, Erikson KM, Bowman AB (2012) Neurotoxicology 33(6): 1443-1449
    › Primary publication · 23099318 (PubMed) · PMC3518601 (PubMed Central)
  7. Deletion of Rictor in neural progenitor cells reveals contributions of mTORC2 signaling to tuberous sclerosis complex. Carson RP, Fu C, Winzenburger P, Ess KC (2013) Hum Mol Genet 22(1): 140-52
    › Primary publication · 23049074 (PubMed) · PMC3522403 (PubMed Central)
  8. DMH1, a highly selective small molecule BMP inhibitor promotes neurogenesis of hiPSCs: comparison of PAX6 and SOX1 expression during neural induction. Neely MD, Litt MJ, Tidball AM, Li GG, Aboud AA, Hopkins CR, Chamberlin R, Hong CC, Ess KC, Bowman AB (2012) ACS Chem Neurosci 3(6): 482-91
    › Primary publication · 22860217 (PubMed) · PMC3400384 (PubMed Central)
  9. Cystogenesis and elongated primary cilia in Tsc1-deficient distal convoluted tubules. Armour EA, Carson RP, Ess KC (2012) Am J Physiol Renal Physiol 303(4): F584-92
    › Primary publication · 22674026 (PubMed) · PMC3423116 (PubMed Central)
  10. New therapies for tuber-less sclerosis: white matter matters? Ess KC, Roach ES (2012) Neurology 78(8): 520-1
    › Primary publication · 22262747 (PubMed)

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465 21st Ave. S.
6158 MRB III
Nashville, SD 37232
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Keywords & MeSH Terms

MeSH terms are retrieved from PubMed records. Learn more.

Key: MeSH Term Keyword

Alleles autism Corpus Callosum epilepsy Female Founder Effect Homeodomain Proteins Humans induced pluripotent stem cells Intracellular Signaling Peptides and Proteins iPSC Membrane Potential, Mitochondrial Mice, Transgenic Mitochondrial Diseases mTOR Multiprotein Complexes Mutation neural stem cells Neurons Regenerative Medicine Repressor Proteins Risk Factors Sirolimus Time Factors Trans-Activators tuberous sclerosis complex Tuberous Sclerosis Complex 2 Protein