Recent publications

Glial Dysfunction and Its Contribution to the Pathogenesis of the Neuronal Ceroid Lipofuscinoses

April 4, 2022

Takahashi K, Nelvagal HR, Lange J, Cooper JD (2022) Glial Dysfunction and Its Contribution to the Pathogenesis of the Neuronal Ceroid LipofuscinosesFront. Neurol. 13:886567. doi: 10.3389/fneur.2022.886567

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Neuropathology of murine Sanfilippo D syndrome

November 24, 2021

Takahashi K, Le SQ, Kan S, Jansen MJ, Dickson PI, Cooper JD. Neuropathology of murine Sanfilippo D syndrome. Mol Genet Metab..2021 Dec;134(4):323-329. doi: 10.1016/j.ymgme.2021.11.010 PMID:34844863

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Intracranial delivery of AAV9 gene therapy partially prevents retinal degeneration and visual deficits in CLN6-Batten disease mice

December 31, 2020

White KA, Nelvagal HR, Poole TA, Lu B, Johnson TB, Davis S, Pratt MA, Brudvig J, Assis AB, Likhite S, Meyer K, Kaspar BK, Cooper JD, Wang S, Weimer JM. Intracranial delivery of AAV9 gene therapy partially prevents retinal degeneration and visual deficits in CLN6-Batten disease mice. Mol Ther Methods Clin Dev..2021; 20:497-507. doi: 10.1016/j.omtm.2020.12.014 PMID:33665223

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Comparative proteomic profiling reveals mechanisms for early spinal cord vulnerability in CLN1 disease

September 16, 2020

Nelvagal HR, Hurtado ML, Eaton SL, Kline RA, Lamont DJ, Sands MS, Wishart TM, Cooper JD. Comparative proteomic profiling reveals mechanisms for early spinal cord vulnerability in CLN1 disease. Sci Rep.. 2020;10(1):15157. doi: 10.1038/s41598-020-72075-7  PMID: 32938982

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Spinal manifestations of CLN1 disease start during the early postnatal period

September 7, 2020

Nelvagal HR, Dearborn JT, Ostergaard JR, Sands MS, Cooper JDSpinal manifestations of CLN1 disease start during the early postnatal periodNeuropathol Appl Neurobiol.. 2020. doi: doi: 10.1111/nan.12658  PMID: 32841420

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Myelin and Lipid Composition of the Corpus Callosum in Mucopolysaccharidosis Type I Mice

June 14, 2020

Le SQ, Nestrasil I, Kan SH, Egeland M, Cooper JD, Elashoff D, Guo R, Tolar J, Yee JK, Dickson PI. Myelin and Lipid Composition of the Corpus Callosum in Mucopolysaccharidosis Type I Mice. Lipids. 2020. doi:10.1002/lipd.12261  PMID: 32537944

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Future perspectives: What lies ahead for Neuronal Ceroid Lipofuscinosis research?

September 1, 2020

Cooper JD, Mole SE. Future perspectives: What lies ahead for Neuronal Ceroid Lipofuscinosis research? Biochim Biophys Acta Mol Basis Dis. 2020;(1866 (9)):165681. doi:10.1016/j.bbadis.2020.165681. PMID: 31926264

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Pathomechanisms in the neuronal ceroid lipofuscinoses

October 31, 2019

Nelvagal HR, Lange J, Takahashi K, Tarczyluk-Wells MA, Cooper JDPathomechanisms in the neuronal ceroid lipofuscinosesBiochim Biophys Acta Mol Basis Dis.. 2019;(1866(9)):165570. doi: 10.1016/j.bbadis.2019.165570  PMID: 31678162

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Combined Anti-inflammatory and Neuroprotective Treatments Have the Potential to Impact Disease Phenotypes in Cln3 -/- Mice

September 11, 2019

Tarczyluk-Wells MA, Salzlechner C, Najafi AR, Lim MJ, Smith D, Platt FM, Williams BP, Cooper JDCombined Anti-inflammatory and Neuroprotective Treatments Have the Potential to Impact Disease Phenotypes in Cln3 -/- MiceFrontiers in Neurology. 2019;10:963. doi:10.3389/fneur.2019.00963 PMID: 31572287

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CRISPR/Cas9 mediated generation of an ovine model for infantile neuronal ceroid lipofuscinosis (CLN1 disease)

July 9, 2019

Eaton SL, Proudfoot C, Lillico SG, Skehel P, Kline RA, Hamer K, Rzechorzek NM, Clutton E, Gregson R, King T, O’Neill CA, Cooper JD, Thompson G, Whitelaw CB, Wishart TM. CRISPR/Cas9 mediated generation of an ovine model for infantile neuronal ceroid lipofuscinosis (CLN1 disease). Scientific Reports. 2019. PMID: 31289301

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Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis

January 1, 2019

Mole SE, Anderson G, Band HA, Berkovic SF, Cooper JD, Kleine Holthaus SM, McKay TR, Medina DL, Rahim AA, Schulz A, Smith AJ.. Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosisLancet neurology. 2019;18(1):107-116. PMID: 30470609

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Genetically Corrected iPSC-Derived Neural Stem Cell Grafts Deliver Enzyme Replacement to Affect CNS Disease in Sanfilippo B Mice

September 21, 2018

Clarke D, Pearse Y, Kan SH, Le SQ, Sanghez V, Cooper JD, Dickson PI, Iacovino M. Genetically Corrected iPSC-Derived Neural Stem Cell Grafts Deliver Enzyme Replacement to Affect CNS Disease in Sanfilippo B Mice. Mol Ther Methods Clin Dev. 2018 Jul 23;10:113-127. doi: 10.1016/j.omtm.2018.06.005. PMID: 30101150; PMCID: PMC6076361.

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Compromised astrocyte function and survival negatively impact neurons in infantile neuronal ceroid lipofuscinosis

August 8, 2018

Lange J, Haslett LJ, Lloyd-Evans E, Pocock JM, Sands MS, Williams BP, Cooper JD. Compromised astrocyte function and survival negatively impact neurons in infantile neuronal ceroid lipofuscinosis. Acta Neuropathol Commun. 2018 Aug 8;6(1):74. doi: 10.1186/s40478-018-0575-4. PMID: 30089511; PMCID: PMC6081811.

Recent publications

  • Neuronal deletion of the circadian clock gene Bmal1 induces cell-autonomous dopaminergic neurodegenerationKanan, M. K., Sheehan, P. W., Haines, J. N., Gomez, P. G., Dhuler, A., Nadarajah, C. J., Wargel, Z. M., Freeberg, B. M., Nelvagal, H. R., Izumo, M., Takahashi, J. S., Cooper, J. D., Davis, A. A. & Musiek, E. S., Jan 2024, In: JCI Insight. 9, 2, e162771.Research output: Contribution to journal › Article › peer-review
  • A mouse mutant deficient in both neuronal ceroid lipofuscinosis-associated proteins CLN3 and TPP1Sleat, D. E., Banach-Petrosky, W., Larrimore, K. E., Nemtsova, Y., Wiseman, J. A., Najafi, A., Johnson, D., Poole, T. A., Takahashi, K., Cooper, J. D. & Lobel, P., Jul 2023, In: Journal of Inherited Metabolic Disease. 46, 4, p. 720-734 15 p.Research output: Contribution to journal › Article › peer-review
  • Gene therapy ameliorates spontaneous seizures associated with cortical neuron loss in a Cln2R207X mouse modelTakahashi, K., Eultgen, E. M., Wang, S. H., Rensing, N. R., Nelvagal, H. R., Dearborn, J. T., Danos, O., Buss, N., Sands, M. S., Wong, M. & Cooper, J. D., Jun 15 2023, In: Journal of Clinical Investigation. 133, 12, e165908.Research output: Contribution to journal › Article › peer-review
  • Severe central nervous system demyelination in Sanfilippo diseaseTaherzadeh, M., Zhang, E., Londono, I., De Leener, B., Wang, S., Cooper, J. D., Kennedy, T. E., Morales, C. R., Chen, Z., Lodygensky, G. A. & Pshezhetsky, A. V., 2023, In: Frontiers in Molecular Neuroscience. 16, 1323449.Research output: Contribution to journal › Article › peer-review
  • Brain transplantation of genetically corrected Sanfilippo type B neural stem cells induces partial cross-correction of the diseasePearse, Y., Clarke, D., Kan, S. H., Le, S. Q., Sanghez, V., Luzzi, A., Pham, I., Nih, L. R., Cooper, J., Dickson, P. I. & Iacovino, M., Dec 8 2022, In: Molecular Therapy – Methods and Clinical Development. 27, p. 452-463 12 p.Research output: Contribution to journal › Article › peer-review
  • Effects of chronic cannabidiol in a mouse model of naturally occurring neuroinflammation, neurodegeneration, and spontaneous seizuresDearborn, J. T., Nelvagal, H. R., Rensing, N. R., Takahashi, K., Hughes, S. M., Wishart, T. M., Cooper, J. D., Wong, M. & Sands, M. S., Dec 2022, In: Scientific reports. 12, 1, 11286.Research output: Contribution to journal › Article › peer-review
  • Top-down and bottom-up propagation of disease in the neuronal ceroid lipofuscinosesOstergaard, J. R., Nelvagal, H. R. & Cooper, J. D., Nov 11 2022, In: Frontiers in Neurology. 13, 1061363.Research output: Contribution to journal › Article › peer-review
  • Brain volume in chronic ketamine users — relationship to sub-threshold psychotic symptoms and relevance to schizophreniaChesters, R. A., Pepper, F., Morgan, C., Cooper, J. D., Howes, O. D., Vernon, A. C. & Stone, J. M., Nov 2022, In: Psychopharmacology. 239, 11, p. 3421-3429 9 p.Research output: Contribution to journal › Article › peer-review
  • Cross-species efficacy of enzyme replacement therapy for CLN1 disease in mice and sheepNelvagal, H. R., Eaton, S. L., Wang, S. H., Eultgen, E. M., Takahashi, K., Le, S. Q., Nesbitt, R., Dearborn, J. T., Siano, N., Puhl, A. C., Dickson, P. I., Thompson, G., Murdoch, F., Brennan, P. M., Gray, M., Greenhalgh, S. N., Tennant, P., Gregson, R., Clutton, E. & Nixon, J. & 10 others, Proudfoot, C., Guido, S., Lillico, S. G., Whitelaw, C. A. B., Lu, J. Y., Hofmann, S. L., Ekins, S., Sands, M. S., Wishart, T. M. & Cooper, J. D., Oct 17 2022, In: Journal […]
  • Tralesinidase Alfa Enzyme Replacement Therapy Prevents Disease Manifestations in a Canine Model of Mucopolysaccharidosis Type IIIBEllinwood, N. M., Valentine, B. N., Hess, A. S., Jens, J. K., Snella, E. M., Jamil, M., Hostetter, S. J., Jeffery, N. D., Smith, J. D., Millman, S. T., Parsons, R. L., Butt, M. T., Chandra, S., Egeland, M. T., Assis, A. B., Nelvagal, H. R., Cooper, J. D., Nestrasil, I., Mueller, B. A. & Labounek, R. & 17 others, Paulson, A., Prill, H., Liu, X. Y., Zhou, H., Lawrence, R., Crawford, B. E., Grover, A., Cherala, G., Melton, A. C., Cherukuri, A., Vuillemenot, B. […]

Complete bibliography