Featured Journals



List of Publications

2023

  • Álvarez Z, Ortega JA, Sato K, Sasselli IR, Kolberg-Edelbrock AN, Qiu R, Marshall KA, Nguyen TP, Smith CS, Quinlan KA, Syrgiannis Z, Sather NA, Musumeci C, Engel E, Stupp SI, Kiskinis E.
    Artificial Extracellular Matrix Scaffolds of Mobile Molecules Enhance Maturation of Human Stem Cell-Derived Neurons.
    Cell Stem Cell, 2023 Feb 2;30(2):219-238.e14. PMID: 36638801

    • 2022

  • Ortega JA, Sasselli IR, Boccitto M, Fleming AC, Fortuna TR, Li Y, Smith CS, Sato K, Clemons TD, SDaley EL, Nguyen TP, Andersen EN, Ichida JK, Pandey UB, Wolin S, Stupp SI, Kiskinis E.
    CLIP-Seq Analysis Enables the Design of Ribosomal RNA Bait Oligonucleotides That Protect Against C9ORF72 ALS/FTD-Associated Poly-GR Pathophysiology.
    In revision and bioRxiv, December 2022. DOI

  • Parnell AM, Culotta L, Forrest MP, Jalloul HA, Eckman BL, Loizzo DD, Horan KKE, Dos Santos M, Piguel NH, J.C. Tai D, Zhang H, Gertler TS, Simkin D, Sanders AR, Talkowski ME, Gejman PV, Kiskinis E, Duan P, Penzes P.
    Excitatory dysfunction drives network and calcium handling deficits in 16p11.2 duplication schizophrenia iPSC-derived neurons.
    Biological Psychiatry. 2022 Nov 9:S0006-3223(22)01718-8. PMID: 36581494

  • Gleixner AM, Verdone BM, Otte CG, Anderson EN, Ramesh N, Shapiro OR, Gale JR, Mauna JC, Mann JR, Copley KE, Daley EL, Ortega JA, Cicardi ME, Kiskinis E, Kofler J, Pandey UB, Trotti D, Donnelly CJ.
    NUP62 localizes to ALS/FTLD pathological assemblies and contributes to TDP-43 insolubility.
    Nat Commun. 2022 Jun 13;13(1):3380. PMID: 35697676

  • Simkin D, Ambrosi CA, Marshall KA, Williams LA, Eisenberg, Gharib M, Dempsey GT, George Jr. AL, McManus OB, Kiskinis E.
    “Channeling” therapeutic discovery for epileptic encephalopathy through iPSC technologies.
    Trends in Pharmacological Sciences. 2022 May;43(5):392-405. PMID: 35427475

  • Kiskinis E.
    Driving precision neurology forwards with iPSCs and new assays.
    Drug Target Review. 2022, Vol 9, Issue 1, Pages 29-31. elink

  • Simkin D, Papakis V, Bustos BI, Ambrosi CA, Ryan SJ, Baru V, Williams LA, Dempsey GT, McManus OB, Landers JE, Lubbe SJ, George Jr. AL, Kiskinis E.
    Homozygous might be hemizygous: CRISPR/Cas9 editing in iPSCs results in detrimental on-target defects that escape standard quality controls.
    Stem Cell Reports. 2022 March 10; 17 (4), 993-1008. PMID: 35276091

    • 2021

  • Álvarez Z, Kolberg-Edelbrock AN, Sasselli IR, Ortega JA, Qiu R, Syrgiannis Z, Mirau PA, Chen F, Chin SM, Weigand S, Kiskinis E, Stupp SI.
    Bioactive scaffolds with enhanced supramolecular motion promote recovery from spinal cord injury.
    Science. 2021 Nov 12;374(6569):848-856. PMID: 34762454

  • Shoemaker AR, Jones IE, Jeffris KD, Gabrielli G, Togliatti AG, Pichika R, Martin E, Kiskinis E, Franz CK, Finan JD.
    Biofidelic dynamic compression of human cortical spheroids reproduces neurotrauma phenotypes.
    Dis Model Mech. 2021 Dec 1;14(12). PMID: 34746950

  • Sonobe Y, Aburas J, Krishnan G, Fleming AC, Ghadge G, Islam P, Warren EC, Gu Y, Kankel MW, Brown AEX, Kiskinis E, Gendron TF, Gao FB, Roos RP, Kratsios P.
    A C. elegans model of C9orf72-associated ALS/FTD uncovers a conserved role for eIF2D in RAN translation.
    Nat Commun. 2021 Oct 15;12(1):6025. PMID: 34654821

  • Simkin D, Marshall KA, Vanoye CG, Desai RR, Bustos BI, Piyevsky BN, Ortega JA, Forrest M, Robertson GL, Penzes P, Laux LC, Lubbe SJ, Millichap JJ, George AL Jr, Kiskinis E.
    Dyshomeostatic modulation of Ca2+-activated K+ channels in a human neuronal model of KCNQ2 encephalopathy.
    eLife. 2021 Feb 5;10:e64434. PMID: 33544076

    • 2020

  • Wainger BJ, Macklin EA, Vucic S, McIlduff CE, Paganoni S, Maragakis NJ, Bedlack R, Goyal NA, Rutkove SB, Lange DJ, Rivner MH, Goutman SA, Ladha SS, Mauricio EA, Baloh RH, Simmons Z, Pothier L, Kassis SB, La T, Hall M, Evora A, Klements D, Hurtado A, Pereira JD, Koh J, Celnik PA, Chaudhry V, Gable K, Juel VC, Phielipp N, Marei A, Rosenquist P, Meehan S, Oskarsson B, Lewis RA, Kaur D, Kiskinis E, Woolf CJ, Eggan K, Weiss MD, Berry JD, David WS, Davila-Perez P, Camprodon JA, Pascual-Leone A, Kiernan MC, Shefner JM, Atassi N, Cudkowicz ME.
    Effect of Ezogabine on Cortical and Spinal Motor Neuron Excitability in Amyotrophic Lateral Sclerosis: A Randomized Clinical Trial.
    JAMA Neurol. 2020 Nov 23:e204300. doi: 10.1001/jamaneurol.2020.4300. PMID: 33226425

  • Ramesh N, Daley EL, Gleixner AM, Mann JR, Kour S, Mawrie D, Anderson EN, Kofler J, Donnelly CJ, Kiskinis E, Pandey UB.
    RNA dependent suppression of C9orf72 ALS/FTD associated neurodegeneration by Matrin-3.
    Acta Neuropathol Commun. 2020 Oct 31;8(1):177. doi: 10.1186/s40478-020-01060. PMID: 33129345

  • Charlton J, Jung EJ, Mattei AL, Bailly N, Liao J, Martin EJ, Giesselmann P, Brändl B, Stamenova EK, Müller FJ, Kiskinis E, Gnirke A, Smith ZD, Meissner A.
    TETs compete with DNMT3 activity in pluripotent cells at thousands of methylated somatic enhancers.
    Nat Genet. 2020 Aug;52(8):819-827. doi: 10.1038/s41588-020-0639-9. Epub 2020 Jun 8. PMID: 32514123

  • Ortega JA, Daley EL, Kour S, Samani M, Tellez L, Smith HS, Hall EA, Esengul YT, Tsai YH, Gendron TF, Donnelly CJ, Siddique T, Savas JN, Pandey UB, Kiskinis E.
    Nucleocytoplasmic Proteomic Analysis Uncovers eRF1 and Nonsense-Mediated Decay as Modifiers of ALS/FTD C9orf72 Toxicity.
    Neuron. 2020 Apr 8;106(1):90-107.e13. doi: 10.1016/j.neuron.2020.01.020. Epub 2020 Feb 13. PMID: 32059759

    • 2019

  • Franz CK, Joshi D, Daley EL, Grant RA, Dalamagkas K, Leung A, Finan JD, Kiskinis E.
    The Impact of Traumatic Brain Injury on Amyotrophic Lateral Sclerosis - From Bedside to Bench.
    J Neurophysiol. 2019 May 22. doi: 10.1152/jn.00572.2018. PMID:31116639

  • Baron DM, Matheny T, Lin YC, Leszyk JD, Kenna K, Gall KV, Santos DP, Tischbein M, Funes S, Hayward LJ, Kiskinis E, Landers JE, Parker R, Shaffer SA, Bosco DA.
    Quantitative proteomics identifies proteins that resist translational repression and become dysregulated in ALS-FUS.
    Hum Mol Genet. 2019 Feb 26. PMID:30806671

    • 2018

  • Hernandez-Garcia A, Álvarez Z, Simkin D, Madhan A, Pariset E, Tantakitti F, de J Vargas-Dorantes O, Lee SS, Kiskinis E, Stupp SI.
    Peptide-siRNA Supramolecular Particles for Neural Cell Transfection.
    Adv Sci. 2018 Dec 5. PMID:30775231

  • Ichida JK, Staats KA, Davis-Dusenbery BN, Clement K, Galloway KE, Babos KN, Shi Y, Son EY, Kiskinis E, Atwater N, Gu H, Gnirke A, Meissner A, Eggan K.
    Comparative Genomic Analysis of Embryonic, Lineage-Converted, and Stem Cell-Derived Motor Neurons.
    Development. 2018 Oct 18. PMID:30337375

  • Simkin D and Kiskinis E.
    Modeling Pediatric Epilepsy Through iPSC-Based Technologies.
    Epilepsy Curr. 2018 Jul-Aug;18(4):240-245. PMID:30254520

  • Edelbrock AN, Àlvarez Z, Simkin D, Fyrner T, Chin SM, Sato K, Kiskinis E, Stupp SI.
    Supramolecular Nanostructure Activates TrkB Receptor Signaling of Neuronal Cells by Mimicking Brain-Derived Neurotrophic Factor.
    Nano Lett. 2018 Oct 10;18(10):6237-6247. PMID:30211565

  • Franz CK, Puritz A, Jordan LA, Chow J, Ortega JA, Kiskinis E, Heckman CJ.
    Botulinum Toxin Conditioning Enhances Motor Axon Regeneration in Mouse and Human Preclinical Models.
    Neurorehabil Neural Repair. 2018 Aug;32(8):735-745. PMID:30043670

  • Kiskinis E, Kralj JM, Zou P, Weinstein EN, Zhang H, Tsioras K, Wiskow O, Ortega JA, Eggan K, Cohen AE.
    All-Optical Electrophysiology for High-Throughput Functional Characterization of a Human iPSC-Derived Motor Neuron Model of ALS.
    Stem Cell Reports. 2018 May 11. PMID:29779896

  • Sanders SJ, Campbell AJ, Cottrell JR, Moller RS, Wagner FF, Auldridge AL, Bernier RA, Catterall WA, Chung WK, Empfield JR, George AL Jr, Hipp JF, Khwaja O, Kiskinis E, Lal D, Malhotra D, Millichap JJ, Otis TS, Petrou S, Pitt G, Schust LF, Taylor CM, Tjernagel J, Spiro JE, Bender KJ.
    Progress in Understanding and Treating SCN2A-Mediated Disorders.
    Trends Neurosci.2018 Apr 22. PMID:29691040

  • Simmons CQ, Thompson CH, Cawthon BE, Westlake G, Swoboda KJ, Kiskinis E, Ess KC, George AL Jr.
    Direct evidence of impaired neuronal Na/K-ATPase pump function in alternating hemiplegia of childhood.
    Neurobiol Dis. 2018 Mar 19;115:29-38. PMID:29567111

  • Ziller MJ, Ortega JA, Quinlan KA, Santos DP, Gu H, Martin EJ, Galonska C, Pop R, Maidl S, Di Pardo A, Huang M, Meltzer HY, Gnirke A, Heckman CJ, Meissner A, Kiskinis E.
    Dissecting the Functional Consequences of De Novo DNA Methylation Dynamics in Human Motor Neuron Differentiation and Physiology.
    Cell Stem Cell. 2018 Apr 5;22(4):559-574. PMID:29551301

  • Charlton J, Downing TL, Smith ZD, Gu H, Clement K, Pop R, Akopian V, Klages S, Santos DP, Tsankov AM, Timmermann B, Ziller MJ, Kiskinis E, Gnirke A, Meissner A.
    Global delay in nascent strand DNA methylation.
    Nat Struct Mol Biol. 2018 Apr;25(4):327-332. PMID:29531288

    • 2017

  • Burbulla LF, Song P, Mazzulli JR, Zampese E, Wong YC, Jeon S, Santos DP, Blanz J, Obermaier CD, Strojny C, Savas JN, Kiskinis E, Zhuang X, Krüger R, Surmeier DJ, Krainc D.
    Dopamine oxidation mediates mitochondrial and lysosomal dysfunction in Parkinson's disease.
    Science. 2017 Sep 22;357(6357):1255-1261. PMID:28882997

  • Mitropoulos K, Merkouri Papadima E, Xiromerisiou G, Balasopoulou A, Charalampidou K, Galani V, Zafeiri KV, Dardiotis E, Ralli S, Deretzi G, John A, Kydonopoulou K, Papadopoulou E, di Pardo A, Akcimen F, Loizedda A, Dobričić V, Novaković I, Kostić VS, Mizzi C, Peters BA, Basak N, Orrù S, Kiskinis E, Cooper DN, Gerou S, Drmanac R, Bartsakoulia M, Tsermpini EE, Hadjigeorgiou GM, Ali BR, Katsila T, Patrinos GP.
    Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients.
    Hum Genomics. 2017 Dec 8;11(1):30. PMID:29216901

  • Santos DP, Kiskinis E.
    Generation of Spinal Motor Neurons from Human Pluripotent Stem Cells.
    Methods Mol Biol.2017;1538:53-66. PMID:27943183

    • 2016

  • Santos DP, Kiskinis E, Eggan K, Merkle FT.
    Comprehensive Protocols for CRISPR/Cas9-based Gene Editing in Human Pluripotent Stem Cells.
    Curr Protoc Stem Cell Biol. 2016 Aug17;38:5B.6.1-5B.6.60. PMID:27532820

    • 2015

  • Ichida JK, Kiskinis E.
    Probing disorders of the nervous system using reprogramming approaches.
    EMBO J. 2015 Apr 29. Review. PMID:25925386

  • Schwarz-Romond T, Kiskinis E, Eggan K.
    Focus on induced pluripotency and cellular reprogramming.
    EMBO J. 2015 Apr 27. PMID:25916828

    • 2014

  • de Boer AS, Koszka K, Kiskinis E, Suzuki N, Davis-Dusenbery BN, Eggan K.
    Genetic validation of a therapeutic target in a mouse model of ALS.
    Sci Transl Med. 2014 Aug 6. PMID:25100738

  • Kiskinis E, Sandoe J, Williams LA, Boulting GL, Moccia R, Wainger BJ, Han S, Peng T, Thams S, Mikkilineni S, Mellin C, Merkle FT, Davis-Dusenbery BN, Ziller M, Oakley D, Ichida J, Di Costanzo S, Atwater N, Maeder ML, Goodwin MJ, Nemesh J, Handsaker RE, Paull D, Noggle S, McCarroll SA, Joung JK, Woolf CJ, Brown RH, Eggan K.
    Pathways disrupted in human ALS motor neurons identified through genetic correction of mutant SOD1.
    Cell Stem Cell. 2014 Jun 5. PMID:24704492

  • Wainger BJ*, Kiskinis E*, Mellin C, Wiskow O, Han SS, Sandoe J, Perez NP, Williams LA, Lee S, Boulting G, Berry JD, Brown RH Jr, Cudkowicz ME, Bean BP, Eggan K, Woolf CJ.
    Intrinsic membrane hyperexcitability of amyotrophic lateral sclerosis patient-derived motor neurons.
    Cell Rep. 2014 Apr 10. PMID:24703839

  • Alami NH, Smith RB, Carrasco MA, Williams LA, Winborn CS, Han SS, Kiskinis E, Winborn B, Freibaum BD, Kanagaraj A, Clare AJ, Badders NM, Bilican B, Chaum E, Chandran S, Shaw CE, Eggan KC, Maniatis T, Taylor JP.
    Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutations.
    Neuron. 2014 Feb 5. PMID:24507191

  • Kiskinis E, Chatzeli L, Curry E, Kaforou M, Frontini A, Cinti S, Montana G, Parker MG, Christian M.
    RIP140 represses the "brown-in-white" adipocyte program including a futile cycle of triacylglycerol breakdown and synthesis.
    Mol Endocrinol. 2014 Mar 28. PMID:24479876

    • 2012

  • Mekhoubad S, Bock C, de Boer AS, Kiskinis E, Meissner A, Eggan K.
    Erosion of dosage compensation impacts human iPSC disease modeling.
    Cell Stem Cell. 2012 May 4. PMID:22560080

    • 2011

  • Gore A, Li Z, Fung HL, Young JE, Agarwal S, Antosiewicz-Bourget J, Canto I, Giorgetti A, Israel MA, Kiskinis E, Lee JH, Loh YH, Manos PD, Montserrat N, Panopoulos AD, Ruiz S, Wilbert ML, Yu J, Kirkness EF, Izpisua Belmonte JC, Rossi DJ, Thomson JA, Eggan K, Daley GQ, Goldstein LS, Zhang K.
    Somatic coding mutations in human induced pluripotent stem cells.
    Nature. 2011 Mar 3. PMID:21368825

  • Bock C, Kiskinis E, Verstappen G*, Gu H, Boulting G, Smith ZD, Ziller M, Croft GF, Amoroso MW, Oakley DH, Gnirke A, Eggan K, Meissner A.
    Reference Maps of human ES and iPS cell variation enable high-throughput characterization of pluripotent cell lines.
    Cell. 2011 Feb 4. PMID:21295703

  • Boulting GL, Kiskinis E, Croft GF, Amoroso MW*, Oakley DH*, Wainger BJ, Williams DJ, Kahler DJ, Yamaki M, Davidow L, Rodolfa CT, Dimos JT, Mikkilineni S, MacDermott AB, Woolf CJ, Henderson CE, Wichterle H, Eggan K.
    A functionally characterized test set of human induced pluripotent stem cells.
    Nat Biotechnol. 2011 Mar 29. PMID:21293464

    • 2010

  • Ichida JK, Kiskinis E, Eggan K.
    Shushing down the epigenetic landscape towards stem cell differentiation.
    Development. 2010 Aug 1. PMID:20554719

  • Kiskinis E, Eggan K.
    Progress toward the clinical application of patient-specific pluripotent stem cells.
    J Clin Invest. 2010 Jan. Review. PMID:20051636

    • 2008

  • Hallberg M, Morganstein DL, Kiskinis E, Shah K, Kralli A, Dilworth SM, White R, Parker MG, Christian M.
    A functional interaction between RIP140 and PGC-1alpha regulates the expression of the lipid droplet protein CIDEA.
    Mol Cell Biol. 2008 Nov;28(22):6785-95. doi: 10.1128/MCB.00504-08. Epub 2008 Sep 15. PMID:18794372

    • 2007

  • Kiskinis E, Hallberg M, Christian M, Olofsson M, Dilworth SM, White R, Parker MG.
    RIP140 directs histone and DNA methylation to silence Ucp1 expression in white adipocytes.
    EMBO J. 2007 Nov 28;26(23):4831-40. Epub 2007 Nov 1. PMID:17972916

    • 2006

  • García-Pedrero JM, Kiskinis E, Parker MG, Belandia B.
    The SWI/SNF chromatin remodeling subunit BAF57 is a critical regulator of estrogen receptor function in breast cancer cells.
    J Biol Chem. 2006 Aug 11;281(32):22656-64. Epub 2006 Jun 12. PMID:16769725

  • Kiskinis E, García-Pedrero JM, Villaronga MA, Parker MG, Belandia B.
    Identification of BAF57 mutations in human breast cancer cell lines.
    Breast Cancer Res Treat. 2006 Jul;98(2):191-8. Epub 2006 Mar 15. PMID:16538531

  • Powelka AM, Seth A, Virbasius JV, Kiskinis E, Nicoloro SM, Guilherme A, Tang X, Straubhaar J, Cherniack AD, Parker MG, Czech MP.
    Suppression of oxidative metabolism and mitochondrial biogenesis by the transcriptional corepressor RIP140 in mouse adipocytes.
    J Clin Invest. 2006 Jan;116(1):125-36. Epub 2005 Dec 22. PMID:16374519

    • 2005

  • Christian M, Kiskinis E, Debevec D, Leonardsson G, White R, Parker MG.
    RIP140-targeted repression of gene expression in adipocytes.
    Mol Cell Biol. 2005 Nov;25(21):9383-91. PMID:16227589

    • 2002

  • Kiskinis E, Suter W, Hartmann A.
    High throughput Comet assay using 96-well plates.
    Mutagenesis. 2002 Jan;17(1):37-43. PMID:11752232

    • 2001

  • Hartmann A, Kiskinis E, Fjällman A, Suter W.
    Influence of cytotoxicity and compound precipitation on test results in the alkaline comet assay.
    Mutat Res. 2001 Oct 18;497(1-2):199-212. PMID:11525923

  • Hartmann A, Elhajouji A, Kiskinis E, Poetter F, Martus H, Fjällman A, Frieauff W, Suter W.
    Use of the alkaline comet assay for industrial genotoxicity screening: comparative investigation with the micronucleus test.
    Food Chem Toxicol. 2001 Aug;39(8):843-58. PMID:11434992

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    For general lab inquires please contact our lab manager Kevin at: Phone: 312-503-6126 | E-mail: kevin.smith@northwestern.edu

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    Evangelos Kiskinis Lab | Northwestern University
    Feinberg school of Medicine | Department of Neurology
    Searle 6-450 | 320 East Superior Street
    Chicago, IL 60611, USA