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.

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