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420 related items for PubMed ID: 32592935

  • 1. Loss of CLN3, the gene mutated in juvenile neuronal ceroid lipofuscinosis, leads to metabolic impairment and autophagy induction in retinal pigment epithelium.
    Zhong Y, Mohan K, Liu J, Al-Attar A, Lin P, Flight RM, Sun Q, Warmoes MO, Deshpande RR, Liu H, Jung KS, Mitov MI, Lin N, Butterfield DA, Lu S, Liu J, Moseley HNB, Fan TWM, Kleinman ME, Wang QJ.
    Biochim Biophys Acta Mol Basis Dis; 2020 Oct 01; 1866(10):165883. PubMed ID: 32592935
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  • 2. Photoreceptor phagosome processing defects and disturbed autophagy in retinal pigment epithelium of Cln3Δex1-6 mice modelling juvenile neuronal ceroid lipofuscinosis (Batten disease).
    Wavre-Shapton ST, Calvi AA, Turmaine M, Seabra MC, Cutler DF, Futter CE, Mitchison HM.
    Hum Mol Genet; 2015 Dec 15; 24(24):7060-74. PubMed ID: 26450516
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  • 3. Cln3-mutations underlying juvenile neuronal ceroid lipofuscinosis cause significantly reduced levels of Palmitoyl-protein thioesterases-1 (Ppt1)-protein and Ppt1-enzyme activity in the lysosome.
    Appu AP, Bagh MB, Sadhukhan T, Mondal A, Casey S, Mukherjee AB.
    J Inherit Metab Dis; 2019 Sep 15; 42(5):944-954. PubMed ID: 31025705
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  • 4. Self-Complementary AAV9 Gene Delivery Partially Corrects Pathology Associated with Juvenile Neuronal Ceroid Lipofuscinosis (CLN3).
    Bosch ME, Aldrich A, Fallet R, Odvody J, Burkovetskaya M, Schuberth K, Fitzgerald JA, Foust KD, Kielian T.
    J Neurosci; 2016 Sep 14; 36(37):9669-82. PubMed ID: 27629717
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  • 6. Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosis.
    Gomez-Giro G, Arias-Fuenzalida J, Jarazo J, Zeuschner D, Ali M, Possemis N, Bolognin S, Halder R, Jäger C, Kuper WFE, van Hasselt PM, Zaehres H, Del Sol A, van der Putten H, Schöler HR, Schwamborn JC.
    Acta Neuropathol Commun; 2019 Dec 30; 7(1):222. PubMed ID: 31888773
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  • 7. Unbiased Cell-based Screening in a Neuronal Cell Model of Batten Disease Highlights an Interaction between Ca2+ Homeostasis, Autophagy, and CLN3 Protein Function.
    Chandrachud U, Walker MW, Simas AM, Heetveld S, Petcherski A, Klein M, Oh H, Wolf P, Zhao WN, Norton S, Haggarty SJ, Lloyd-Evans E, Cotman SL.
    J Biol Chem; 2015 Jun 05; 290(23):14361-80. PubMed ID: 25878248
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  • 8. Immunomodulation with minocycline rescues retinal degeneration in juvenile neuronal ceroid lipofuscinosis mice highly susceptible to light damage.
    Dannhausen K, Möhle C, Langmann T.
    Dis Model Mech; 2018 Sep 05; 11(9):. PubMed ID: 30042155
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  • 13. Imaging data on characterization of retinal autofluorescent lesions in a mouse model of juvenile neuronal ceroid lipofuscinosis (CLN3 disease).
    Wang QJ, Jung KS, Mohan K, Kleinman ME.
    Data Brief; 2020 Oct 05; 32():106076. PubMed ID: 32885002
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  • 15. Retinal pathology and function in a Cln3 knockout mouse model of juvenile Neuronal Ceroid Lipofuscinosis (batten disease).
    Seigel GM, Lotery A, Kummer A, Bernard DJ, Greene ND, Turmaine M, Derksen T, Nussbaum RL, Davidson B, Wagner J, Mitchison HM.
    Mol Cell Neurosci; 2002 Apr 05; 19(4):515-27. PubMed ID: 11988019
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  • 16. Phenotypic characterization of a mouse model of juvenile neuronal ceroid lipofuscinosis.
    Katz ML, Johnson GS, Tullis GE, Lei B.
    Neurobiol Dis; 2008 Feb 05; 29(2):242-53. PubMed ID: 17962032
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  • 17. Altered sensitivity of cerebellar granule cells to glutamate receptor overactivation in the Cln3(Δex7/8)-knock-in mouse model of juvenile neuronal ceroid lipofuscinosis.
    Finn R, Kovács AD, Pearce DA.
    Neurochem Int; 2011 May 05; 58(6):648-55. PubMed ID: 21315126
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  • 18. Vision loss in juvenile neuronal ceroid lipofuscinosis (CLN3 disease).
    Ouseph MM, Kleinman ME, Wang QJ.
    Ann N Y Acad Sci; 2016 May 05; 1371(1):55-67. PubMed ID: 26748992
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  • 19. A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family.
    Sher M, Farooq M, Abdullah U, Ali Z, Faryal S, Zakaria M, Ullah F, Bukhari H, Møller RS, Tommerup N, Baig SM.
    Int J Neurosci; 2019 Sep 05; 129(9):890-895. PubMed ID: 30892110
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  • 20. Ocular morphology and function in juvenile neuronal ceroid lipofuscinosis (CLN3) in the first decade of life.
    Preising MN, Abura M, Jäger M, Wassill KH, Lorenz B.
    Ophthalmic Genet; 2017 Sep 05; 38(3):252-259. PubMed ID: 27486012
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