2020
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Xie Y, Ng NN, Safrina OS, Ramos CM, Ess KC, Schwartz PH, Smith MA, O'Dowd DK. Comparisons of dual isogenic human iPSC pairs identify functional alterations directly caused by an epilepsy associated SCN1A mutation. Neurobiology of disease. 2020 Dec;134(134). 104627 p.
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Snow JP, Westlake G, Klofas LK, Jeon S, Armstrong LC, Swoboda KJ, George AL, Ess KC. Neuronal modeling of alternating hemiplegia of childhood reveals transcriptional compensation and replicates a trigger-induced phenotype. Neurobiology of disease. 2020 Jul;141(141). 104881 p.
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Klofas LK, Short BP, Snow JP, Sinnaeve J, Rushing GV, Westlake G, Weinstein W, Ihrie RA, Ess KC, Carson RP. DEPDC5 haploinsufficiency drives increased mTORC1 signaling and abnormal morphology in human iPSC-derived cortical neurons. Neurobiology of disease. 2020 Jun 20;143(143). 104975 p.
2019
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Neal EH, Marinelli NA, Shi Y, McClatchey PM, Balotin KM, Gullett DR, Hagerla KA, Bowman AB, Ess KC, Wikswo JP, Lippmann ES. A Simplified, Fully Defined Differentiation Scheme for Producing Blood-Brain Barrier Endothelial Cells from Human iPSCs. Stem cell reports. 2019 Dec 11;12(12). 1380-1388.
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Ess KC, Franz DN. Everolimus for cognition/autism in children with tuberous sclerosis complex: Definitive outcomes deferred. Neurology. 2019 Dec 9;93(93). 51-52.
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Gewin LS, Summers ME, Harral JW, Gaskill CF, Khodo SN, Neelisetty S, Sullivan TM, Hopp K, Reese JJ, Klemm DJ, Kon V, Ess KC, Shi W, Majka SM. Inactivation of in Abcg2 lineage-derived cells drives the appearance of polycystic lesions and fibrosis in the adult kidney. American journal of physiology. Renal physiology. 2019 Dec 1;317(317). F1201-F1210.
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Short B, Kozek L, Harmsen H, Zhang B, Wong M, Ess KC, Fu C, Naftel R, Pearson MM, Carson RP. Cerebral aquaporin-4 expression is independent of seizures in tuberous sclerosis complex. Neurobiology of disease. 2019 Dec;129(129). 93-101.
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Rushing GV, Brockman AA, Bollig MK, Leelatian N, Mobley BC, Irish JM, Ess KC, Fu C, Ihrie RA. Location-dependent maintenance of intrinsic susceptibility to mTORC1-driven tumorigenesis. Life science alliance. 2019 Dec;2(2).
2018
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Simmons CQ, Thompson CH, Cawthon BE, Westlake G, Swoboda KJ, Kiskinis E, Ess KC, George AL. Direct evidence of impaired neuronal Na/K-ATPase pump function in alternating hemiplegia of childhood. Neurobiology of disease. 2018 Dec;115(115). 29-38.
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Xie Y, Schutte RJ, Ng NN, Ess KC, Schwartz PH, O'Dowd DK. Reproducible and efficient generation of functionally active neurons from human hiPSCs for preclinical disease modeling. Stem cell research. 2018 Dec;26(26). 84-94. NIHMSID: NIHMS938600.
2013
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Kim SH, Kowalski ML, Carson RP, Bridges LR, Ess KC. Heterozygous inactivation of tsc2 enhances tumorigenesis in p53 mutant zebrafish. Disease models & mechanisms. 2013 Jul;6(6). 925-33.
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Kim SH, Scott SA, Bennett MJ, Carson RP, Fessel J, Brown HA, Ess KC. Multi-organ abnormalities and mTORC1 activation in zebrafish model of multiple acyl-CoA dehydrogenase deficiency. PLoS genetics. 2013 Jun;9(9). e1003563.
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Fu C, Ess KC. Conditional and domain-specific inactivation of the Tsc2 gene in neural progenitor cells. Genesis (New York, N.Y. : 2000). 2013 Apr;51(51). 284-92. NIHMSID: NIHMS439942.
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Ess KC. Patient heal thyself: modeling and treating neurological disorders using patient-derived stem cells. Experimental biology and medicine (Maywood, N.J.). 2013 Mar;238(238). 308-14. NIHMSID: NIHMS512927.
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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. Autophagy induction is a Tor- and Tp53-independent cell survival response in a zebrafish model of disrupted ribosome biogenesis. PLoS genetics. 9(9). e1003279.
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Carson RP, Fu C, Winzenburger P, Ess KC. Deletion of Rictor in neural progenitor cells reveals contributions of mTORC2 signaling to tuberous sclerosis complex. Human molecular genetics. 2013 Jan 1;22(22). 140-52.
2012
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Aboud AA, Tidball AM, Kumar KK, Neely MD, Ess KC, Erikson KM, Bowman AB. Genetic risk for Parkinson's disease correlates with alterations in neuronal manganese sensitivity between two human subjects. Neurotoxicology. 2012 Dec;33(33). 1443-9. NIHMSID: NIHMS422778.
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Fu C, Cawthon B, Clinkscales W, Bruce A, Winzenburger P, Ess KC. GABAergic interneuron development and function is modulated by the Tsc1 gene. Cerebral cortex (New York, N.Y. : 1991). 2012 Sep;22(22). 2111-9.
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Armour EA, Carson RP, Ess KC. Cystogenesis and elongated primary cilia in Tsc1-deficient distal convoluted tubules. American journal of physiology. Renal physiology. 2012 Aug 15;303(303). F584-92.
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Neely MD, Litt MJ, Tidball AM, Li GG, Aboud AA, Hopkins CR, Chamberlin R, Hong CC, Ess KC, Bowman AB. DMH1, a highly selective small molecule BMP inhibitor promotes neurogenesis of hiPSCs: comparison of PAX6 and SOX1 expression during neural induction. ACS chemical neuroscience. 2012 Jun 20;3(3). 482-91.
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Ess KC, Roach ES. New therapies for tuber-less sclerosis: white matter matters? Neurology. 2012 Feb 21;78(78). 520-1.
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Carson RP, Van Nielen DL, Winzenburger PA, Ess KC. Neuronal and glia abnormalities in Tsc1-deficient forebrain and partial rescue by rapamycin. Neurobiology of disease. 2012 Jan;45(45). 369-80. NIHMSID: NIHMS321767.
2011
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Kim SH, Speirs CK, Solnica-Krezel L, Ess KC. Zebrafish model of tuberous sclerosis complex reveals cell-autonomous and non-cell-autonomous functions of mutant tuberin. Disease models & mechanisms. 2011 Mar;4(4). 255-67.
2010
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Ess KC. Tuberous sclerosis complex: a brave new world? Current opinion in neurology. 2010 Apr;23(23). 189-93. NIHMSID: NIHMS202943.
2009
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Ess KC. Tuberous sclerosis complex: everything old is new again. Journal of neurodevelopmental disorders. 2009 Jun;1(1). 141-9.
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Ess KC. Treatment of infantile spasms in tuberous sclerosis complex: dismal outcomes but future hope? Nature clinical practice. Neurology. 2009 Feb;5(5). 72-3.
2007
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Zeng LH, Ouyang Y, Gazit V, Cirrito JR, Jansen LA, Ess KC, Yamada KA, Wozniak DF, Holtzman DM, Gutmann DH, Wong M. Abnormal glutamate homeostasis and impaired synaptic plasticity and learning in a mouse model of tuberous sclerosis complex. Neurobiology of disease. 2007 Nov;28(28). 184-96. NIHMSID: NIHMS34606.
2006
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Ess KC. The neurobiology of tuberous sclerosis complex. Seminars in pediatric neurology. 2006 Mar;13(13). 37-42.