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, Ferrucci L, Gonzalez-Freire M, Kosmac K, Leeuwenburgh C, Peterson CA, Saini S, Sufit R  Skeletal Muscle Pathology in Peripheral Artery Disease: A Brief Review.  Arterioscler Thromb Vasc Biol  2020 Sep 17;:ATVBAHA120313831. doi:10.1161/ATVBAHA.120.313831
  2. 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
  3. Pytte J, Flynn LL, Anderton RS, Mastaglia FL, Theunissen F, James I, Pfaff A, Koks S, Saunders AM, Bedlack R, Burns DK, Lutz MW, Siddique N, Siddique T, Roses AD, Akkari PA  Disease-modifying effects of an SCAF4 structural variant in a predominantly SOD1 ALS cohort.  Neurol Genet  2020 Aug;6(4):e470. doi:10.1212/NXG.0000000000000470
  4. 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
  5. 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 Jun 27;. doi:10.1007/s00415-020-10010-6
  6. 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
  7. Wu JJ, Cai A, Greenslade JE, Higgins NR, Fan C, Le NTT, Tatman M, Whiteley AM, Prado MA, Dieriks BV, Curtis MA, Shaw CE, Siddique T, Faull RLM, Scotter EL, Finley D, Monteiro MJ  ALS/FTD mutations in UBQLN2 impede autophagy by reducing autophagosome acidification through loss of function.  Proc Natl Acad Sci U S A  2020 06 30;117(26):15230-15241. doi:10.1073/pnas.1917371117
  8. Jara JH, Sheets PL, Nigro MJ, Perić M, Brooks C, Heller DB, Martina M, Andjus PR, Ozdinler PH  The Electrophysiological Determinants of Corticospinal Motor Neuron Vulnerability in ALS.  Front Mol Neurosci  2020;13:73. doi:10.3389/fnmol.2020.00073
  9. Patel K, Polonsky TS, Kibbe MR, Guralnik JM, Tian L, Ferrucci L, Criqui MH, Sufit R, Leeuwenburgh C, Zhang D, Zhao L, McDermott MM  Clinical Characteristics and Response to Supervised Exercise Therapy in People with Lower Extremity Peripheral Artery Disease.  J Vasc Surg  2020 May 13;. pii:S0741-5214(20)31111-3
  10. McDermott MM, Tian L, Criqui MH, Ferrucci L, Conte MS, Zhao L, Li L, Sufit R, Polonsky TS, Kibbe MR, Greenland P, Leeuwenburgh C, Guralnik JM  Meaningful change in 6-minute walk in people with peripheral artery disease.  J Vasc Surg  2020 Apr 23;. pii:S0741-5214(20)31053-3
  11. Pytte J, Anderton RS, Flynn LL, Theunissen F, Jiang L, Pitout I, James I, Mastaglia FL, Saunders AM, Bedlack R, Siddique T, Siddique N, Akkari PA  Association of a structural variant within the SQSTM1 gene with amyotrophic lateral sclerosis.  Neurol Genet  2020 Apr;6(2):e406. doi:10.1212/NXG.0000000000000406
  12. Obici L, Berk JL, González-Duarte A, Coelho T, Gillmore J, Schmidt HH, Schilling M, Yamashita T, Labeyrie C, Brannagan TH, Ajroud-Driss S, Gorevic P, Kristen AV, Franklin J, Chen J, Sweetser MT, Wang JJ, Adams D  Quality of life outcomes in APOLLO, the phase 3 trial of the RNAi therapeutic patisiran in patients with hereditary transthyretin-mediated amyloidosis.  Amyloid  2020 Sep;27(3):153-162. doi:10.1080/13506129.2020.1730790
  13. 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
  14. McDermott MM, Criqui MH, Domanchuk K, Ferrucci L, Guralnik JM, Kibbe MR, Kosmac K, Kramer CM, Leeuwenburgh C, Li L, Lloyd-Jones D, Peterson CA, Polonsky TS, Stein JH, Sufit R, Van Horn L, Villarreal F, Zhang D, Zhao L, Tian L  Cocoa to Improve Walking Performance in Older People With Peripheral Artery Disease: The COCOA-PAD Pilot Randomized Clinical Trial.  Circ Res  2020 Feb 28;126(5):589-599. doi:10.1161/CIRCRESAHA.119.315600
  15. 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 04 08;106(1):90-107.e13. pii:S0896-6273(20)30046-5
  16. 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  2020 03;71(3):988-1001. pii:S0741-5214(19)31736-7
  17. 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
  18. 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
  19. 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 10 15;203(8):2239-2251. doi:10.4049/jimmunol.1701686
  20. 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
  21. 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
  22. Deng HX  HACE1, RAC1, and what else in the pathogenesis of SPPRS?  Neurol Genet  2019 Jun;5(3):e326. doi:10.1212/NXG.0000000000000326
  23. 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
  24. 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
  25. 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
  26. 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
  27. 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
  28. 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
  29. 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
  30. 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
  31. 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
  32. 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
  33. 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
  34. 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
  35. 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
  36. 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
  37. 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
  38. 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
  39. 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
  40. 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
  41. 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
  42. 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
  43. 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
  44. 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
  45. 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
  46. 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
  47. 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
  48. 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
  49. 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