Northwestern University Feinberg School of Medicine

Les Turner ALS Center

Publications

Learn more about the work that we do at the Les Turner ALS Center through recent publications from our labs.

  1. McDermott MM, Guralnik JM, Tian L, Zhao L, Polonsky TS, Kibbe MR, Criqui MH, Zhang D, Conte MS, Domanchuk K, Li L, Sufit R, Leeuwenburgh C, Ferrucci L  Comparing 6-minute walk versus treadmill walking distance as outcomes in randomized trials of peripheral artery disease.  J Vasc Surg  2019 Dec 21;. pii:S0741-5214(19)31736-7
  2. Gautam M, Xie EF, Kocak N, Ozdinler PH  Mitoautophagy: A Unique Self-Destructive Path Mitochondria of Upper Motor Neurons With TDP-43 Pathology Take, Very Early in ALS.  Front Cell Neurosci  2019;13:489. doi:10.3389/fncel.2019.00489
  3. Jara JH, Gautam M, Kocak N, Xie EF, Mao Q, Bigio EH, Özdinler PH  MCP1-CCR2 and neuroinflammation in the ALS motor cortex with TDP-43 pathology.  J Neuroinflammation  2019 Oct 30;16(1):196. doi:10.1186/s12974-019-1589-y
  4. Kim VY, Batty A, Li J, Kirk SG, Crowell SA, Jin Y, Tang J, Zhang J, Rogers LK, Deng HX, Nelin LD, Liu Y  Glutathione Reductase Promotes Fungal Clearance and Suppresses Inflammation during Systemic Candida albicans Infection in Mice.  J Immunol  2019 Oct 15;203(8):2239-2251. doi:10.4049/jimmunol.1701686
  5. 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  2019 Aug 29;. doi:10.1007/s12017-019-08564-4
  6. 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
  7. Deng HX  HACE1, RAC1, and what else in the pathogenesis of SPPRS?  Neurol Genet  2019 Jun;5(3):e326. doi:10.1212/NXG.0000000000000326
  8. Lu J, Periz G, Lu YN, Tang Q, Liu Y, Zhang T, Shah Y, Thombre R, Aljumaah R, Li W, Mojsilovic-Petrovic J, Ji Y, Johnson K, Kalb R, Wang J  Publisher Correction: L3MBTL1 regulates ALS/FTD-associated proteotoxicity and quality control.  Nat Neurosci  2019 Jul;22(7):1196. doi:10.1038/s41593-019-0438-8
  9. 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
  10. Lu J, Periz G, Lu YN, Tang Q, Liu Y, Zhang T, Shah Y, Thombre R, Aljumaah R, Li W, Mojsilovic-Petrovic J, Ji Y, Johnson K, Kalb R, Wang J  L3MBTL1 regulates ALS/FTD-associated proteotoxicity and quality control.  Nat Neurosci  2019 06;22(6):875-886. doi:10.1038/s41593-019-0384-5
  11. Tan YQ, Tu C, Meng L, Yuan S, Sjaarda C, Luo A, Du J, Li W, Gong F, Zhong C, Deng HX, Lu G, Liang P, Lin G  Loss-of-function mutations in TDRD7 lead to a rare novel syndrome combining congenital cataract and nonobstructive azoospermia in humans.  Genet Med  2019 05;21(5):1209-1217. doi:10.1038/gim.2017.130
  12. 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 07 01;28(13):2143-2160. doi:10.1093/hmg/ddz048
  13. 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
  14. 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 (Weinh)  2019 Feb 06;6(3):1801458. doi:10.1002/advs.201801458
  15. 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 Feb;9(1):5-23. doi:10.2217/nmt-2018-0033
  16. Aubert G, Ajroud-Driss S, Knight BP, Shah SJ, McNally EM  New DEStiny Revealed.  Circulation  2018 09 18;138(12):1267-1271. doi:10.1161/CIRCULATIONAHA.118.035577
  17. Dervishi I, Gozutok O, Murnan K, Gautam M, Heller D, Bigio E, Ozdinler PH  Protein-protein interactions reveal key canonical pathways, upstream regulators, interactome domains, and novel targets in ALS.  Sci Rep  2018 10 03;8(1):14732. doi:10.1038/s41598-018-32902-4
  18. 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
  19. 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 10 10;18(10):6237-6247. doi:10.1021/acs.nanolett.8b02317
  20. 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
  21. 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
  22. 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
  23. Sanders SJ, Campbell AJ, Cottrell JR, Moller RS, Wagner FF, Auldridge AL, Bernier RA, Catterall WA, Chung WK, Empfield JR, George AL, 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 07;41(7):442-456. pii:S0166-2236(18)30072-9
  24. 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  Author Correction: Global delay in nascent strand DNA methylation.  Nat Struct Mol Biol  2018 04;25(4):355. doi:10.1038/s41594-018-0055-3
  25. 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.  Neurobiol Dis  2018 07;115:29-38. pii:S0969-9961(18)30077-9
  26. 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 04 05;22(4):559-574.e9. pii:S1934-5909(18)30106-1
  27. 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 04;25(4):327-332. doi:10.1038/s41594-018-0046-4
  28. Dervishi I, Ozdinler PH  Incorporating upper motor neuron health in ALS drug discovery.  Drug Discov Today  2018 Mar;23(3):696-703. pii:S1359-6446(17)30419-1
  29. 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 08;11(1):30. doi:10.1186/s40246-017-0126-2
  30. McDermott MM, Ferrucci L, Tian L, Guralnik JM, Lloyd-Jones D, Kibbe MR, Polonsky TS, Domanchuk K, Stein JH, Zhao L, Taylor D, Skelly C, Pearce W, Perlman H, McCarthy W, Li L, Gao Y, Sufit R, Bloomfield CL, Criqui MH  Effect of Granulocyte-Macrophage Colony-Stimulating Factor With or Without Supervised Exercise on Walking Performance in Patients With Peripheral Artery Disease: The PROPEL Randomized Clinical Trial.  JAMA  2017 12 05;318(21):2089-2098. doi:10.1001/jama.2017.17437
  31. 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 09 22;357(6357):1255-1261. doi:10.1126/science.aam9080
  32. Tan YQ, Tu C, Meng L, Yuan S, Sjaarda C, Luo A, Du J, Li W, Gong F, Zhong C, Deng HX, Lu G, Liang P, Lin G  Loss-of-function mutations in TDRD7 lead to a rare novel syndrome combining congenital cataract and nonobstructive azoospermia in humans.  Genet Med  2017 Aug 24;. doi:10.1038/gim.2017.130
  33. Jara JH, Genç B, Stanford MJ, Pytel P, Roos RP, Weintraub S, Mesulam MM, Bigio EH, Miller RJ, Özdinler PH  Evidence for an early innate immune response in the motor cortex of ALS.  J Neuroinflammation  2017 06 26;14(1):129. doi:10.1186/s12974-017-0896-4
  34. Edens BM, Yan J, Miller N, Deng HX, Siddique T, Ma YC  A novel ALS-associated variant in UBQLN4 regulates motor axon morphogenesis.  Elife  2017 05 02;6. doi:10.7554/eLife.25453
  35. Zhong Y, Wang J, Henderson MJ, Yang P, Hagen BM, Siddique T, Vogel BE, Deng HX, Fang S  Nuclear export of misfolded SOD1 mediated by a normally buried NES-like sequence reduces proteotoxicity in the nucleus.  Elife  2017 05 02;6. doi:10.7554/eLife.23759
  36. Nicholson TT, Smith SB, Siddique T, Sufit R, Ajroud-Driss S, Coleman JM, Wolfe LF  Respiratory Pattern and Tidal Volumes Differ for Pressure Support and Volume-assured Pressure Support in Amyotrophic Lateral Sclerosis.  Ann Am Thorac Soc  2017 Jul;14(7):1139-1146. doi:10.1513/AnnalsATS.201605-346OC
  37. McDermott MM, Leeuwenburgh C, Guralnik JM, Tian L, Sufit R, Zhao L, Criqui MH, Kibbe MR, Stein JH, Lloyd-Jones D, Anton SD, Polonsky TS, Gao Y, de Cabo R, Ferrucci L  Effect of Resveratrol on Walking Performance in Older People With Peripheral Artery Disease: The RESTORE Randomized Clinical Trial.  JAMA Cardiol  2017 08 01;2(8):902-907. doi:10.1001/jamacardio.2017.0538
  38. Shi H, Deng HX, Gius D, Schumacker PT, Surmeier DJ, Ma YC  Sirt3 protects dopaminergic neurons from mitochondrial oxidative stress.  Hum Mol Genet  2017 05 15;26(10):1915-1926. doi:10.1093/hmg/ddx100
  39. Sufit RL, Ajroud-Driss S, Casey P, Kessler JA  Open label study to assess the safety of VM202 in subjects with amyotrophic lateral sclerosis.  Amyotroph Lateral Scler Frontotemporal Degener  2017 05;18(3-4):269-278. doi:10.1080/21678421.2016.1259334
  40. Genç B, Jara JH, Lagrimas AK, Pytel P, Roos RP, Mesulam MM, Geula C, Bigio EH, Özdinler PH  Apical dendrite degeneration, a novel cellular pathology for Betz cells in ALS.  Sci Rep  2017 02 06;7:41765. doi:10.1038/srep41765
  41. Fil D, DeLoach A, Yadav S, Alkam D, MacNicol M, Singh A, Compadre CM, Goellner JJ, O'Brien CA, Fahmi T, Basnakian AG, Calingasan NY, Klessner JL, Beal FM, Peters OM, Metterville J, Brown RH, Ling KKY, Rigo F, Ozdinler PH, Kiaei M  Mutant Profilin1 transgenic mice recapitulate cardinal features of motor neuron disease.  Hum Mol Genet  2017 02 15;26(4):686-701. doi:10.1093/hmg/ddw429
  42. Santos DP, Kiskinis E  Generation of Spinal Motor Neurons from Human Pluripotent Stem Cells.  Methods Mol Biol  2017;1538:53-66
  43. Geevasinga N, Menon P, Özdinler PH, Kiernan MC, Vucic S  Pathophysiological and diagnostic implications of cortical dysfunction in ALS.  Nat Rev Neurol  2016 11;12(11):651-661. doi:10.1038/nrneurol.2016.140
  44. Radzicki D, Liu E, Deng HX, Siddique T, Martina M  Early Impairment of Synaptic and Intrinsic Excitability in Mice Expressing ALS/Dementia-Linked Mutant UBQLN2.  Front Cell Neurosci  2016;10:216
  45. Labuzzetta CJ, Antonio ML, Watson PM, Wilson RC, Laboissonniere LA, Trimarchi JM, Genc B, Ozdinler PH, Watson DK, Anderson PE  Complementary feature selection from alternative splicing events and gene expression for phenotype prediction.  Bioinformatics  2016 09 01;32(17):i421-i429. doi:10.1093/bioinformatics/btw430
  46. 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 08 17;38:5B.6.1-5B.6.60. doi:10.1002/cpsc.15
  47. Simonett JM, Huang R, Siddique N, Farsiu S, Siddique T, Volpe NJ, Fawzi AA  Macular sub-layer thinning and association with pulmonary function tests in Amyotrophic Lateral Sclerosis.  Sci Rep  2016 07 07;6:29187. doi:10.1038/srep29187
  48. Lee S, Shang Y, Redmond SA, Urisman A, Tang AA, Li KH, Burlingame AL, Pak RA, Jovičić A, Gitler AD, Wang J, Gray NS, Seeley WW, Siddique T, Bigio EH, Lee VM, Trojanowski JQ, Chan JR, Huang EJ  Activation of HIPK2 Promotes ER Stress-Mediated Neurodegeneration in Amyotrophic Lateral Sclerosis.  Neuron  2016 07 06;91(1):41-55. doi:10.1016/j.neuron.2016.05.021
  49. Deng HX, Shi Y, Yang Y, Ahmeti KB, Miller N, Huang C, Cheng L, Zhai H, Deng S, Nuytemans K, Corbett NJ, Kim MJ, Deng H, Tang B, Yang Z, Xu Y, Chan P, Huang B, Gao XP, Song Z, Liu Z, Fecto F, Siddique N, Foroud T, Jankovic J, Ghetti B, Nicholson DA, Krainc D, Melen O, Vance JM, Pericak-Vance MA, Ma YC, Rajput AH, Siddique T  Identification of TMEM230 mutations in familial Parkinson's disease.  Nat Genet  2016 07;48(7):733-9. doi:10.1038/ng.3589