Publications and Awards | Overview
Note: List of publications from researchers at Boston Children’s Hospital who used the core facility.
Lee HHC, Latzer IT, Bertoldi M, Gao G, Pearl PL, Sahin M, Rotenberg A. Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency. J Inherit Metab Dis. 2024 May;47(3):476-493. doi: 10.1002/jimd.12735. Epub 2024 Apr 6. PMID: 38581234; PMCID: PMC11096052.
Tokatly Latzer I, Bertoldi M, Blau N, DiBacco ML, Elsea SH, García-Cazorla À, Gibson KM, Gropman AL, Hanson E, Hoffman C, Jeltsch K, Juliá-Palacios N, Knerr I, Lee HHC, Malaspina P, McConnell A, Opladen T, Oppebøen M, Rotenberg A, Walterfang M, Wang-Tso L, Wevers RA, Roullet JB, Pearl PL. Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency. Mol Genet Metab. 2024 May;142(1):108363. doi: 10.1016/j.ymgme.2024.108363. Epub 2024 Mar 4. PMID: 38452608; PMCID: PMC11073920.
Karwacki-Neisius V, Jang A, Cukuroglu E, Tai A, Jiao A, Predes D, Yoon J, Brookes E, Chen J, Iberg A, Halbritter F, Õunap K, Gecz J, Schlaeger TM, Ho Sui S, Göke J, He X, Lehtinen MK, Pomeroy SL, Shi Y. WNT signalling control by KDM5C during development affects cognition. Nature. 2024 Mar;627(8004):594-603. doi: 10.1038/s41586-024-07067-y. Epub 2024 Feb 21. PMID: 38383780; PMCID: PMC10954547.
LaCoursiere CM, Ullmann JFP, Koh HY, Turner L, Baker CM, Robens B, Shao W, Rotenberg A, McGraw CM, Poduri A. Zebrafish models of candidate human epilepsy-associated genes provide evidence of hyperexcitability. bioRxiv [Preprint]. 2024 Feb 8:2024.02.07.579190. doi: 10.1101/2024.02.07.579190. PMID: 38370728; PMCID: PMC10871320.
Taub DG, Jiang Q, Pietrafesa F, Su J, Carroll A, Greene C, Blanchard MR, Jain A, El-Rifai M, Callen A, Yager K, Chung C, He Z, Chen C, Woolf CJ. The secondary somatosensory cortex gates mechanical and heat sensitivity. Nat Commun. 2024 Feb 12;15(1):1289. doi: 10.1038/s41467-024-45729-7. PMID: 38346995; PMCID: PMC10861531.
Barone I, Gilette NM, Hawks-Mayer H, Handy J, Zhang KJ, Chifamba FF, Mostafa E, Johnson-Venkatesh EM, Sun Y, Gibson JM, Rotenberg A, Umemori H, Tsai PT, Lipton JO. Synaptic BMAL1 phosphorylation controls circadian hippocampal plasticity. Sci Adv. 2023 Oct 27;9(43):eadj1010. doi: 10.1126/sciadv.adj1010. Epub 2023 Oct 25. PMID: 37878694; PMCID: PMC10599629.
Dhamne SC, Modi ME, Gray A, Bonazzi S, Craig L, Bainbridge E, Lalani L, Super CE, Schaeffer S, Capre K, Lubicka D, Liang G, Burdette D, McTighe SM, Gurnani S, Vermudez SAD, Curtis D, Wilson CJ, Hameed MQ, D'Amore A, Rotenberg A, Sahin M. Seizure reduction in TSC2-mutant mouse model by an mTOR catalytic inhibitor. Ann Clin Transl Neurol. 2023 Oct;10(10):1790-1801. doi: 10.1002/acn3.51868. Epub 2023 Aug 6. PMID: 37545094; PMCID: PMC10578885.
Hoshina N, Johnson-Venkatesh EM, Rally VR, Sant J, Hoshina M, Seiglie MP, Umemori H. ASD/OCD-Linked Protocadherin-10 Regulates Synapse, But Not Axon, Development in the Amygdala and Contributes to Fear- and Anxiety-Related Behaviors. J Neurosci. 2022 May 25;42(21):4250-4266. doi: 10.1523/JNEUROSCI.1843-21.2022. Epub 2022 May 3. PMID: 35504727; PMCID: PMC9145243.
Benham RS, Choi C, Hodgson NW, Hewage NB, Kastli R, Donahue RJ, Muschamp JW, Engin E, Carlezon WA Jr, Hensch TK, Rudolph U. α2-containing γ-aminobutyric acid type A receptors promote stress resiliency in male mice. Neuropsychopharmacology. 2021 Nov;46(12):2197-2206. doi: 10.1038/s41386-021-01144-w. Epub 2021 Aug 18. PMID: 34408277; PMCID: PMC8505491.
Fagiolini M, Patrizi A, LeBlanc J, Jin LW, Maezawa I, Sinnett S, Gray SJ, Molholm S, Foxe JJ, Johnston MV, Naidu S, Blue M, Hossain A, Kadam S, Zhao X, Chang Q, Zhou Z, Zoghbi H. Intellectual and Developmental Disabilities Research Centers: A Multidisciplinary Approach to Understand the Pathogenesis of Methyl-CpG Binding Protein 2-related Disorders. Neuroscience 2020;445:190-206. PMCID: PMC8025698.
Chari T, Griswold S, Andrews NA, Fagiolini M. The Stage of the Estrus Cycle Is Critical for Interpretation of Female Mouse Social Interaction Behavior. Front Behav Neurosci 2020;14:113. PMCID: PMC7340104.
MacMullin P, Hodgson N, Damar U, Lee HHC, Hameed MQ, Dhamne SC, Hyde D, Conley GM, Morriss N, Qiu J, Mannix R, Hensch TK, Rotenberg A. Increase in Seizure Susceptibility After Repetitive Concussion Results from Oxidative Stress, Parvalbumin-Positive Interneuron Dysfunction and Biphasic Increases in Glutamate/GABA Ratio. Cereb Cortex. 2020 [Epub ahead of print]. 2020.
O'Donell P, Dijkstra FM, Damar U, Quanhong L, de Goede AA, Xu L, Pascual-Leone A, Buhl DL, Zuiker R, Ruijs TQ, Heuberger J, MacMullin P, Lubell M, Asgharnejad M, Murthy V, Rotenberg A, Jacobs GE, Rosen L. Transcranial magnetic stimulation as a translational biomarker for AMPA receptor modulation. Transl Psychiatry 2021;11(1):325. PMCID: PMC8160137.
Mannix R, Morriss NJ, Conley GM, Meehan WP, 3rd, Nedder A, Qiu J, Float J, DiCesare CA, Myer GD. Internal Jugular Vein Compression Collar Mitigates Histopathological Alterations after Closed Head Rotational Head Impact in Swine: A Pilot Study. Neuroscience 2020;437:132-44.
Terauchi A, Durlacher E, Pitino J, Umemori H. Neuronal fibroblast growth factor 22 signaling during development, but not in adults, is involved in anhedonia. Neuroreport 2020;31(2):125-30. PMCID: N/A.
Wu L, Chan ST, Edmiston WJ, 3rd, Jin G, Levy ES, Kwong KK, Mannix R, Meehan WP, Chifamba FF, Lipton, JO, Whalen MJ, Chen YI. Persistent CO2 reactivity deficits are associated with neurological dysfunction up to one year after repetitive mild closed head injury in adolescent mice. J Cereb Blood Flow Metab 2021:271678X211021771.
McNair LF, Andersen JV, Nissen JD, Sun Y, Fischer KD, Hodgson NW, Du M, Aoki CJ, Waagepetersen HS, Rosenberg PA, Aldana BI. Conditional Knockout of GLT-1 in Neurons Leads to Alterations in Aspartate Homeostasis and Synaptic Mitochondrial Metabolism in Striatum and Hippocampus. Neurochem Res. 2020 Jun;45(6):1420-1437. doi: 10.1007/s11064-020-03000-7. Epub 2020 Mar 6. PMID: 32144526.
McNair LF, Andersen JV, Aldana BI, Hohnholt MC, Nissen JD, Sun Y, Fischer KD, Sonnewald U, Nyberg N, Webster SC, Kapur K, Rimmele TS, Barone I, Hawks-Mayer H, Lipton JO, Hodgson NW, Hensch TK, Aoki CJ, Rosenberg PA, Waagepetersen HS. Deletion of Neuronal GLT-1 in Mice Reveals Its Role in Synaptic Glutamate Homeostasis and Mitochondrial Function. J Neurosci. 2019 Jun 19;39(25):4847-4863. doi: 10.1523/JNEUROSCI.0894-18.2019. Epub 2019 Mar 29. PMID: 30926746.
Gulinello M, Mitchell HA, Chang Q, Timothy O'Brien W, Zhou Z, Abel T, Wang L, Corbin JG, Veeraragavan S, Samaco RC, Andrews NA, Fagiolini M, Cole TB, Burbacher TM, Crawley JN. Rigor and reproducibility in rodent behavioral research. Neurobiol Learn Mem. 2019 Nov;165:106780. doi: 10.1016/j.nlm.2018.01.001. Epub 2018 Jan 4. PMID: 29307548; PMCID: PMC6034984.
Zullo J, Drake D, Aron L, O’Hern P, Dhamne SC, Davidsohn N, Mao CA, Klein WH, Rotenberg A, Bennett DA, Church GM, Colaiacovo MP, Yankner BA. Regulation of lifespan by neural excitation and REST. Nature 2019 Oct; 574(7778): 359-364
Purtell H, Dhamne SC, Gurnani S, Bainbridge E, Modi ME, Lammers SHT, Super CE, Johnson EL, Sahin M, Rotenberg A. Electrographic spikes are common in wildtype mice. Epilepsy Behav. 2018 Nov 3; 89: 94-98
Kelly E, Schaeffer SM, Dhamne SC, Lipton JO, Lindemann L, Honer M, Jaeschke G, Super CE, Lammers SHT, Modi ME, Silverman JL, Dreier JR, Kwiatowski DJ, Rotenberg A, Sahin M. mGluR5 modulation of behavioral and epileptic phenotypes in a mouse model of TSC. Neuropsychopharmacol. 2018 May; 43(6): 1457-1465
Yuskaitis CJ, Jones B, Wolfson RL, Super CE, Dhamne SC, Rotenberg A, Sabatini DM, Sahin M, Poduri A. A mouse model of DEPDC5-related epilepsy: Neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure activity. Neurobiol Dis. 2018 Mar 18; 111: 91-101
Alexandre C, Latremoliere A, Ferreira A, Miracca G, Yamamoto M, Scammell TE, Woolf CJ. Decreased alertness due to sleep loss increases pain sensitivity in mice. Nat Med 2017;23(6):768-74.
Dhamne SC, Silverman JL, Super CE, Lammers SHT, Hameed MQ, Modi ME, Copping NA, Pride MC, Smith DG, Rotenberg A, Crawley JN, Sahin M. Replicable in vivo physiological and behavioral phenotypes of the Shank3B null mutant mouse model of autism. Mol Autism 2017;8:26. PMCID: PMC5472997.
Landegger LD, Pan B, Askew C, Wassmer SJ, Gluck SD, Galvin A, Taylor R, Forge A, Stankovic KM, Holt JR, Vandenberghe LH. A synthetic AAV vector enables safe and efficient gene transfer to the mammalian inner ear. Nat Biotechnol 2017;35(3):280-4. PMCID: PMC5340646.
Lipton JO, Boyle LM, Yuan ED, Hochstrasser KJ, Chifamba FF, Nathan A, Tsai PT, Davis F, Sahin M. Aberrant Proteostasis of BMAL1 Underlies Circadian Abnormalities in a Paradigmatic mTOR-opathy. Cell Rep 2017;20(4):868-80. PMCID: PMC5603761.
Liu Y, Wang X, Li W, Zhang Q, Li Y, Zhang Z, Zhu J, Chen B, Williams PR, Zhang Y, Yu B, Gu X, He Z. A Sensitized IGF1 Treatment Restores Corticospinal Axon-Dependent Functions. Neuron 2017;95(4):817-33 e4. PMCID: PMC5582621.
Oaks AW, Zamarbide M, Tambunan DE, Santini E, Di Costanzo S, Pond HL, Johnson MW, Lin J, Gonzalez DM, Boehler JF, Wu GK, Klann E, Walsh CA, Manzini MC. Cc2d1a Loss of Function Disrupts Functional and Morphological Development in Forebrain Neurons Leading to Cognitive and Social Deficits. Cereb Cortex 2017;27(2):1670-85. PMCID: PMC Journal - In Process.
Pan B, Askew C, Galvin A, Heman-Ackah S, Asai Y, Indzhykulian AA, Jodelka FM, Hastings ML, Lentz JJ, Vandenberghe LH, Holt JR, Geleoc GS. Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c. Nat Biotechnol 2017;35(3):264-72. PMCID: PMC5340578.
Su C, Schwarz TL. O-GlcNAc Transferase Is Essential for Sensory Neuron Survival and Maintenance. J Neurosci 2017;37(8):2125-36. PMCID: PMC5338757.
Alexander MS, Gasperini MJ, Tsai PT, Gibbs DE, Spinazzola JM, Marshall JL, Feyder MJ, Pletcher MT, Chekler EL, Morris CA, Sahin M, Harms JF, Schmidt CJ, Kleiman RJ, Kunkel LM. Reversal of neurobehavioral social deficits in dystrophic mice using inhibitors of phosphodiesterases PDE5A and PDE9A. Transl Psychiatry 2016;6(9):e901. PMCID: PMC5048211.
Bei F, Lee H, Liu X, Gunner G, Jin H, Ma L, Wang C, Hou L, Hensch TK, Frank E, Sanes JR, Chen C, Fagiolini M, He Z. Restoration of visual function by enhancing conduction in regenerated axons. Cell 2016;164(1-2):219-32. PMCID: PMC4863988.
Kahle KT, Schmouth JF, Lavastre V, Latremoliere A, Zhang J, Andrews N, Omura T, Laganiere J, Rochefort D, Hince P, Castonguay G, Gaudet R, Mapplebeck JC, Sotocinal SG, Duan J, Ward C, Khanna AR, Mogil JS, Dion PA, Woolf CJ, Inquimbert P, Rouleau GA. Inhibition of the kinase WNK1/HSN2 ameliorates neuropathic pain by restoring GABA inhibition. Sci Signal 2016;9(421):ra32. PMCID: NON-COMPLIANT.
Patrizi A, Picard N, Simon AJ, Gunner G, Centofante E, Andrews NA, Fagiolini M. Chronic Administration of the N-Methyl-D-Aspartate Receptor Antagonist Ketamine Improves Rett Syndrome Phenotype. Biol Psychiatry 2016;79(9):755-64. PMCID: PMC Journal - In Process.
Sakuma M, Gorski G, Sheu SH, Lee S, Barrett LB, Singh B, Omura T, Latremoliere A, Woolf CJ. Lack of motor recovery after prolonged denervation of the neuromuscular junction is not due to regenerative failure. Eur J Neurosci 2016;43(3):451-62. PMCID: PMC4738060.
Schafer DP, Heller CT, Gunner G, Heller M, Gordon C, Hammond T, Wolf Y, Jung S, Stevens B. Microglia contribute to circuit defects in Mecp2 null mice independent of microglia-specific loss of Mecp2 expression. Elife 2016;5:e15224. PMCID: PMC4961457.
Greene-Colozzi EA, Sadowski AR, Chadwick E, Tsai PT, Sahin M. Both maternal and pup genotype influence ultrasonic vocalizations and early developmental milestones in tsc2 (+/-) mice. Epilepsy research and treatment 2014; 2014:784137. PMCID: 4137560.
Louros SR, Hooks BM, Litvina L, Carvalho AL, Chen C. A role for stargazin in experience-dependent plasticity. Cell reports 2014;7(5):1614-25. PMCID: 4115130
Mannix R, Berglass J, Berkner J, Moleus P, Qiu J, Andrews N, Gunner G, Berglass L, Jantzie LL, Robinson S, Meehan WP, 3rd. Chronic gliosis and behavioral deficits in mice following repetitive mild traumatic brain injury. J Neurosurg 2014;121(6):1342-50.
Mannix R, Berglass J, Berkner J, Moleus P, Qiu J, Jantzie LL, Meehan WP, 3rd, Stanley RM, Robinson S. Sex differences in the effect of progesterone after controlled cortical impact in adolescent mice: a preliminary study. J Neurosurg 2014;121(6):1337-41.
Riccio A, Li Y, Tsvetkov E, Gapon S, Yao GL, Smith KS, Engin E, Rudolph U, Bolshakov VY, Clapham DE. Decreased anxiety-like behavior and Gαq/11-dependent responses in the amygdala of mice lacking TRPC4 channels. J Neurosci 2014;34(10):3653-67.