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Publications

  1. Tsioras K, Smith KC, Edassery SL, Garjani M, Li Y, Williams C, McKenna ED, Guo W, Wilen AP, Hark TJ, Marklund SL, Ostrow LW, Gilthorpe JD, Ichida JK, Kalb RG, Savas JN, Kiskinis E. Analysis of proteome-wide degradation dynamics in ALS SOD1 iPSC-derived patient neurons reveals disrupted VCP homeostasis. Cell Rep. 2023 Oct 31;42(10):113160. doi: 10.1016/j.celrep.2023.113160. Epub 2023 Sep 29. PMID: 37776851; PMCID: PMC10785776.
  2. Vanecek AS, Mojsilovic-Petrovic J, Kalb RG, Tepe JJ. Enhanced Degradation of Mutant C9ORF72-Derived Toxic Dipeptide Repeat Proteins by 20S Proteasome Activation Results in Restoration of Proteostasis and Neuroprotection. ACS Chem Neurosci. 2023 Apr 4. doi: 10.1021/acschemneuro.2c00732. Epub ahead of print. PMID: 37015082.
  3. Riechers SP, Mojsilovic-Petrovic J, Belton TB, Chakrabarty RP, Garjani M, Medvedeva V, Dalton C, Wong YC, Chandel NS, Dienel G, Kalb RG. Neurons undergo pathogenic metabolic reprogramming in models of familial ALS. Mol Metab. 2022 Jun;60:101468. doi: 10.1016/j.molmet.2022.101468. Epub 2022 Mar 3. PMID: 35248787; PMCID: PMC8958550.
  4. Snoznik C, Medvedeva V, Mojsilovic-Petrovic J, Rudich P, Oosten J, Kalb RG, Lamitina T. The nuclear ubiquitin ligase adaptor SPOP is a conserved regulator of C9orf72 dipeptide toxicity. Proc Natl Acad Sci U S A. 2021 Oct 5;118(40):e2104664118. doi: 10.1073/pnas.2104664118. Epub 2021 Sep 30. PMID: 34593637; PMCID: PMC8501779.
  5. Yoonseok Park, Colin K. Franz, Hanjun Ryu, Haiwen Luan, ..., Kristen Y. Cotton Three-dimensional, multifunctional neural interfaces for cortical spheroids and engineered assembloids Sci Adv. 2021 Mar 17;7(12):eabf9153. doi: 10.1126/sciadv.abf9153.
  6. E'anna B. Ryan, Jianhua Yan, Nimrod Miller, Sudarshan Dayanidhi, Yongchao C. Ma, Han-Xiang Deng, Teepu Siddique Early death of ALS-linked CHCHD10-R15Ltransgenic mice with central nervous system, skeletal muscle, and cardiac pathology iScience 2021 Jan 18;24(2):102061. doi: 10.1016/j.isci.2021.102061
  7. Juan A. Ortega, Elizabeth L. Daley,Sukhleen Kour, ..., Jeffrey N. Savas,Udai B. Pandey, Evangelos Kiskinis Nucleocytoplasmic Proteomic Analysis UncoverseRF1 and Nonsense-Mediated Decay as Modifiers ofALS/FTDC9orf72Toxicity  Neuron 2020 Apr 8;106(1):90-107.e13. doi: 10.1016/j.neuron.2020.01.020
  8. Ozdinler PH  Expanded access: opening doors to personalized medicine for rare disease patients and patients with neurodegenerative diseases.  FEBS J  2020 Aug 17;. doi:10.1111/febs.15529
  9. Özdinler PH  Help from peripheral macrophages in ALS?  Nat Neurosci  2020 11;23(11):1311-1312. doi:10.1038/s41593-020-00727-y
  10. Brent JR, Franz CK, Coleman JM, Ajroud-Driss S  ALS: Management Problems.  Neurol Clin  2020 08;38(3):565-575. pii:S0733-8619(20)30034-7
  11. Burt RK, Balabanov R, Tavee J, Han X, Sufit R, Ajroud-Driss S, Jovanovic B, Quigley K, Arnautovic I, Helenowski I, Sharrack B  Hematopoietic stem cell transplantation for chronic inflammatory demyelinating polyradiculoneuropathy.  J Neurol  2020 Nov;267(11):3378-3391. doi:10.1007/s00415-020-10010-6
  12. Genc B, Gozutok O, Kocak N, Ozdinler PH  The Timing and Extent of Motor Neuron Vulnerability in ALS Correlates with Accumulation of Misfolded SOD1 Protein in the Cortex and in the Spinal Cord.  Cells  2020 02 22;9(2). pii:E502
  13. Deng S, Feely SME, Shi Y, Zhai H, Zhan L, Siddique T, Deng HX, Shy ME  Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2.  Neuromolecular Med  2020 03;22(1):68-72. doi:10.1007/s12017-019-08564-4
  14. Genc B, Gozutok O, Ozdinler PH  Complexity of Generating Mouse Models to Study the Upper Motor Neurons: Let Us Shift Focus from Mice to Neurons.  Int J Mol Sci  2019 Aug 07;20(16). pii:E3848
  15. Deng HX  HACE1, RAC1, and what else in the pathogenesis of SPPRS?  Neurol Genet  2019 Jun;5(3):e326. doi:10.1212/NXG.0000000000000326
  16. Franz CK, Joshi D, Daley EL, Grant RA, Dalamagkas K, Leung A, Finan JD, Kiskinis E  Impact of traumatic brain injury on amyotrophic lateral sclerosis: from bedside to bench.  J Neurophysiol  2019 09 01;122(3):1174-1185. doi:10.1152/jn.00572.2018
  17. Deng HX, Pericak-Vance MA, Siddique T  Reply to 'TMEM230 variants in Parkinson's disease' and 'Doubts about TMEM230 as a gene for parkinsonism'.  Nat Genet  2019 03;51(3):369-371. doi:10.1038/s41588-019-0355-5
  18. Kristen AV, Ajroud-Driss S, Conceição I, Gorevic P, Kyriakides T, Obici L  Patisiran, an RNAi therapeutic for the treatment of hereditary transthyretin-mediated amyloidosis.  Neurodegener Dis Manag  2019 02;9(1):5-23. doi:10.2217/nmt-2018-0033
  19. Aubert G, Ajroud-Driss S, Knight BP, Shah SJ, McNally EM  New DEStiny Revealed: Young Woman Postablation for Wolf-Parkinson-White Syndrome With Recurrent Syncope and Progressive Myopathy.  Circulation  2018 09 18;138(12):1267-1271. doi:10.1161/CIRCULATIONAHA.118.035577
  20. Simkin D, Kiskinis E  Modeling Pediatric Epilepsy Through iPSC-Based Technologies.  Epilepsy Curr  ;18(4):240-245. doi:10.5698/1535-7597.18.4.240
  21. 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 08;32(8):735-745. doi:10.1177/1545968318790020
  22. 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 06 05;10(6):1991-2004. pii:S2213-6711(18)30188-7
  23. McDermott MM, Peterson CA, Sufit R, Ferrucci L, Guralnik JM, Kibbe MR, Polonsky TS, Tian L, Criqui MH, Zhao L, Stein JH, Li L, Leeuwenburgh C  Peripheral artery disease, calf skeletal muscle mitochondrial DNA copy number, and functional performance.  Vasc Med  2018 08;23(4):340-348. doi:10.1177/1358863X18765667
  24. Pokatayev V, Yang K, Tu X, Dobbs N, Wu J, Kalb RG, Yan N. Homeostatic regulation of STING protein at the resting state by stabilizer TOLLIP. Nat Immunol. 2020 Feb;21(2):158-167. doi: 10.1038/s41590-019-0569-9. Epub 2020 Jan 13. PMID: 31932809; PMCID: PMC6983345.
  25. Bennett HL, McClanahan PD, Fang-Yen C, Kalb RG. Preconditioning of Caenorhabditis elegans to anoxic insult by inactivation of cholinergic, GABAergic and muscle activity. Genes Brain Behav. 2020 Nov 5:e12713. doi: 10.1111/gbb.12713. Epub ahead of print. PMID: 33155386.