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Northwestern University Feinberg School of Medicine
Center for Autism and Neurodevelopment

Publications and Grants

Publications | Grants

Publications

  1. Knox AT, Thompson CH, Scott D, Abramova TV, Stieve B, Freeman A, George AL  Genotype-function-phenotype correlations for SCN1A variants identified by clinical genetic testing.  Ann Clin Transl Neurol  2025 Mar;12(3):499-511. doi:10.1002/acn3.52297
  2. Yoshikawa A, Li J, Alliey-Rodriguez N, Meltzer HY  Genetic markers of early response to lurasidone in acute schizophrenia.  Pharmacogenomics J  2025 Feb 20;25(2):3. pii:3
  3. Tang S, Stamberger H, Calhoun JD, Weckhuysen S, Carvill GL  Antisense oligonucleotides modulate aberrant inclusion of poison exons in SCN1A-related Dravet syndrome.  JCI Insight  2025 Feb 13;10(7). pii:e188014
  4. Novakovic MM, Prakriya M  Calcium signaling at the interface between astrocytes and brain inflammation.  Curr Opin Neurobiol  2025 Feb;90:102940. doi:10.1016/j.conb.2024.102940
  5. Yoon S, Penzes P  Roles of ANK2/ankyrin-B in neurodevelopmental disorders: Isoform functions and implications for autism spectrum disorder and epilepsy.  Curr Opin Neurobiol  2025 Feb;90:102938. doi:10.1016/j.conb.2024.102938
  6. Korshunov KS, Prakriya M  Store-Operated Calcium Channels in the Nervous System.  Annu Rev Physiol  2025 Feb;87(1):173-199. doi:10.1146/annurev-physiol-022724-105330
  7. Kim HR, Dey S, Sekerkova G, Martina M  μ-Opioid Receptor Modulation of the Glutamatergic/GABAergic Midbrain Inputs to the Mouse Dorsal Hippocampus.  J Neurosci  2024 Oct 23;44(43). pii:e0653242024
  8. Borjas NC, Anstötz M, Maccaferri G  Multiple layers of diversity govern the cell type specificity of GABAergic input received by mouse subicular pyramidal neurons.  J Physiol  2024 Sep;602(17):4195-4213. doi:10.1113/JP286679
  9. Hawkins NA, Speakes N, Kearney JA  Fine mapping and candidate gene analysis of Dravet syndrome modifier loci on mouse chromosomes 7 and 8.  Mamm Genome  2024 Sep;35(3):334-345. doi:10.1007/s00335-024-10046-3
  10. McClarty BM, Rodriguez G, Dong H  Class 1 histone deacetylases differentially modulate memory and synaptic genes in a spatial and temporal manner in aged and APP/PS1 mice.  Brain Res  2024 Aug 15;1837:148951. doi:10.1016/j.brainres.2024.148951
  11. Berg AT, Thompson CH, Myers LS, Anderson E, Evans L, Kaiser AJE, Paltell K, Nili AN, DeKeyser JL, Abramova TV  et al.  Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders.  Brain  2024 Aug 01;147(8):2761-2774. doi:10.1093/brain/awae125
  12. Wang YZ, Perez-Rosello T, Smukowski SN, Surmeier DJ, Savas JN  Neuron type-specific proteomics reveals distinct Shank3 proteoforms in iSPNs and dSPNs lead to striatal synaptopathy in Shank3B-/- mice.  Mol Psychiatry  2024 Aug;29(8):2372-2388. doi:10.1038/s41380-024-02493-w
  13. Sekerková G, Kilic S, Cheng YH, Fredrick N, Osmani A, Kim H, Opal P, Martina M  Phenotypical, genotypical and pathological characterization of the moonwalker mouse, a model of ataxia.  Neurobiol Dis  2024 Jun 01;195:106492. doi:10.1016/j.nbd.2024.106492
  14. Vanoye CG, Abramova TV, DeKeyser JM, Ghabra NF, Oudin MJ, Burge CB, Helbig I, Thompson CH, George AL  Molecular and cellular context influences SCN8A variant function.  JCI Insight  2024 May 21;9(12). pii:e177530
  15. Kahl M, Xu Z, Arumugam S, Edens B, Fischietti M, Zhu AC, Platanias LC, He C, Zhuang X, Ma YC  m6A RNA methylation regulates mitochondrial function.  Hum Mol Genet  2024 May 18;33(11):969-980. doi:10.1093/hmg/ddae029
  16. George AL  Late Sodium Current Promotes Ventricular Arrhythmia in Epilepsy-Related Sudden Death.  JACC Clin Electrophysiol  2024 May;10(5):843-845. doi:10.1016/j.jacep.2024.02.029
  17. Kang SK, Hawkins NA, Thompson CH, Baker EM, Echevarria-Cooper DM, Barse L, Thenstedt T, Dixon CJ, Speakes N, George AL  et al.  Altered neurological and neurobehavioral phenotypes in a mouse model of the recurrent KCNB1-p.R306C voltage-sensor variant.  Neurobiol Dis  2024 May;194:106470. doi:10.1016/j.nbd.2024.106470
  18. Seiler JL, Zhuang X, Nelson AB, Lerner TN  Dopamine across timescales and cell types: Relevance for phenotypes in Parkinson's disease progression.  Exp Neurol  2024 Apr;374:114693. doi:10.1016/j.expneurol.2024.114693
  19. Schroder AL, Fairbanks-Santana M, Rakotomamonjy J, Guemez-Gamboa A  Quantifying differentiation of progenitor populations using cerebral organoid models for neurodevelopmental disorders.  STAR Protoc  2024 Mar 15;5(1):102904. pii:102904
  20. Rajagopal L, Huang M, Mahjour S, Ryan C, Elzokaky A, Svensson KA, Meltzer HY  The dopamine D1 receptor positive allosteric modulator, DETQ, improves cognition and social interaction in aged mice and enhances cortical and hippocampal acetylcholine efflux.  Behav Brain Res  2024 Feb 29;459:114766. doi:10.1016/j.bbr.2023.114766
  21. Wang YZ, Castillon CCM, Gebis KK, Bartom ET, d'Azzo A, Contractor A, Savas JN  Notch receptor-ligand binding facilitates extracellular vesicle-mediated neuron-to-neuron communication.  Cell Rep  2024 Feb 27;43(2):113680. doi:10.1016/j.celrep.2024.113680
  22. Chi W, Kiskinis E  Integrative analysis of epilepsy-associated genes reveals expression-phenotype correlations.  Sci Rep  2024 Feb 13;14(1):3587. pii:3587
  23. Rao NR, Upadhyay A, Savas JN  Derailed protein turnover in the aging mammalian brain.  Mol Syst Biol  2024 Feb;20(2):120-139. doi:10.1038/s44320-023-00009-2
  24. Kim HR, Long M, Sekerková G, Maes A, Kennedy A, Martina M  Hypernegative GABAA Reversal Potential in Pyramidal Cells Contributes to Medial Prefrontal Cortex Deactivation in a Mouse Model of Neuropathic Pain.  J Pain  2024 Feb;25(2):522-532. doi:10.1016/j.jpain.2023.09.021
  25. Rylaarsdam L, Rakotomamonjy J, Pope E, Guemez-Gamboa A  iPSC-derived models of PACS1 syndrome reveal transcriptional and functional deficits in neuron activity.  Nat Commun  2024 Jan 27;15(1):827. pii:827
  26. Holloway AL, Lerner TN  Hidden variables in stress neurobiology research.  Trends Neurosci  2024 Jan;47(1):9-17. doi:10.1016/j.tins.2023.10.006
  27. Nomura T, Taniguchi S, Wang YZ, Yeh NH, Wilen AP, Castillon CCM, Foote KM, Xu J, Armstrong JN, Savas JN  et al.  A Pathogenic Missense Mutation in Kainate Receptors Elevates Dendritic Excitability and Synaptic Integration through Dysregulation of SK Channels.  J Neurosci  2023 Nov 22;43(47):7913-7928. doi:10.1523/JNEUROSCI.1259-23.2023
  28. Miller N, Xu Z, Quinlan KA, Ji A, McGivern JV, Feng Z, Shi H, Ko CP, Tsai LH, Heckman CJ  et al.  Mitigating aberrant Cdk5 activation alleviates mitochondrial defects and motor neuron disease symptoms in spinal muscular atrophy.  Proc Natl Acad Sci U S A  2023 Nov 21;120(47):e2300308120. pii:e2300308120
  29. Tsioras K, Smith KC, Edassery SL, Garjani M, Li Y, Williams C, McKenna ED, Guo W, Wilen AP, Hark TJ  et al.  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
  30. Thompson CH, Potet F, Abramova TV, DeKeyser JM, Ghabra NF, Vanoye CG, Millichap JJ, George AL  Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties.  J Gen Physiol  2023 Oct 02;155(10). pii:e202313375
  31. Rajagopal L, Mahjour S, Huang M, Ryan CA, Elzokaky A, Csakai AJ, Orr MJ, Scheidt K, Meltzer HY  NU-1223, a simplified analog of alstonine, with 5-HT2cR agonist-like activity, rescues memory deficit and positive and negative symptoms in subchronic phencyclidine mouse model of schizophrenia.  Behav Brain Res  2023 Oct 02;454:114614. doi:10.1016/j.bbr.2023.114614
  32. Forrest MP, Penzes P  Mechanisms of copy number variants in neuropsychiatric disorders: From genes to therapeutics.  Curr Opin Neurobiol  2023 Oct;82:102750. doi:10.1016/j.conb.2023.102750
  33. Upadhyay A, Chhangani D, Rao NR, Kofler J, Vassar R, Rincon-Limas DE, Savas JN  Amyloid fibril proteomics of AD brains reveals modifiers of aggregation and toxicity.  Mol Neurodegener  2023 Sep 14;18(1):61. pii:61
  34. Rakotomamonjy J, Rylaarsdam L, Fares-Taie L, McDermott S, Davies D, Yang G, Fagbemi F, Epstein M, Fairbanks-Santana M, Rozet JM  et al.  PCDH12 loss results in premature neuronal differentiation and impeded migration in a cortical organoid model.  Cell Rep  2023 Aug 29;42(8):112845. doi:10.1016/j.celrep.2023.112845
  35. Mann JR, McKenna ED, Mawrie D, Papakis V, Alessandrini F, Anderson EN, Mayers R, Ball HE, Kaspi E, Lubinski K  et al.  Loss of function of the ALS-associated NEK1 kinase disrupts microtubule homeostasis and nuclear import.  Sci Adv  2023 Aug 18;9(33):eadi5548. pii:eadi5548
  36. Holloway AL, Schaid MD, Lerner TN  Chronically dysregulated corticosterone impairs dopaminergic transmission in the dorsomedial striatum by sex-divergent mechanisms.  Neuropsychopharmacology  2023 Aug;48(9):1328-1337. doi:10.1038/s41386-023-01551-1
  37. Yoon S, Santos MD, Forrest MP, Pratt CP, Khalatyan N, Mohler PJ, Savas JN, Penzes P  Early developmental deletion of forebrain Ank2 causes seizure-related phenotypes by reshaping the synaptic proteome.  Cell Rep  2023 Jul 25;42(7):112784. doi:10.1016/j.celrep.2023.112784
  38. Parnell E, Culotta L, Forrest MP, Jalloul HA, Eckman BL, Loizzo DD, Horan KKE, Dos Santos M, Piguel NH, Tai DJC  et al.  Excitatory Dysfunction Drives Network and Calcium Handling Deficits in 16p11.2 Duplication Schizophrenia Induced Pluripotent Stem Cell-Derived Neurons.  Biol Psychiatry  2023 Jul 15;94(2):153-163. doi:10.1016/j.biopsych.2022.11.005
  39. Schlingloff D, Hangya B, Pinto L  A cholinergic auditory pathway.  Nat Neurosci  2023 May;26(5):726-728. doi:10.1038/s41593-023-01300-z
  40. Lee MA, Cola P, Jayathilake K, Meltzer HY  Long-Term Outcome of Clozapine in Treatment-Resistant Schizophrenia.  J Clin Psychopharmacol  ;43(3):211-219. doi:10.1097/JCP.0000000000001671
  41. Burgdorf JS, Yoon S, Dos Santos M, Lammert CR, Moskal JR, Penzes P  An IGFBP2-derived peptide promotes neuroplasticity and rescues deficits in a mouse model of Phelan-McDermid syndrome.  Mol Psychiatry  2023 Mar;28(3):1101-1111. doi:10.1038/s41380-022-01904-0
  42. Forrest MP, Dos Santos M, Piguel NH, Wang YZ, Hawkins NA, Bagchi VA, Dionisio LE, Yoon S, Simkin D, Martin-de-Saavedra MD  et al.  Rescue of neuropsychiatric phenotypes in a mouse model of 16p11.2 duplication syndrome by genetic correction of an epilepsy network hub.  Nat Commun  2023 Feb 17;14(1):825. pii:825
  43. Happ HC, Sadleir LG, Zemel M, de Valles-Ibáñez G, Hildebrand MS, McConkie-Rosell A, McDonald M, May H, Sands T, Aggarwal V  et al.  Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5.  Neurology  2023 Feb 07;100(6):e603-e615. doi:10.1212/WNL.0000000000201492
  44. Álvarez Z, Ortega JA, Sato K, Sasselli IR, Kolberg-Edelbrock AN, Qiu R, Marshall KA, Nguyen TP, Smith CS, Quinlan KA  et al.  Artificial extracellular matrix scaffolds of mobile molecules enhance maturation of human stem cell-derived neurons.  Cell Stem Cell  2023 Feb 02;30(2):219-238.e14. pii:S1934-5909(22)00494-5
  45. Esterhuizen AI, Tiffin N, Riordan G, Wessels M, Burman RJ, Aziz MC, Calhoun JD, Gunti J, Amiri EE, Ramamurthy A  et al.  Precision medicine for developmental and epileptic encephalopathies in Africa-strategies for a resource-limited setting.  Genet Med  2023 Feb;25(2):100333. doi:10.1016/j.gim.2022.11.002

Grants

Synaptic and Dendritic Dysfunction in Psychiatric Disorders

Postsynaptic Roles of Ankyrin

Postsynaptic Functions of Neuronal Adhesion Molecules: Focus on CNTNAP2

Role of PCDH12 in Neuronal Circuit Formation During Brain Development and Disease

Regulation of Cortical Critical Periods in a Mouse Model of Autism

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