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Journal Abstract Search

198 related items for PubMed ID: 15649713

  • 21. Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency.
    Hofmann SL, Das AK, Yi W, Lu JY, Wisniewski KE.
    Mol Genet Metab; 1999 Apr; 66(4):234-9. PubMed ID: 10191107
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  • 22. Cln1-mutations suppress Rab7-RILP interaction and impair autophagy contributing to neuropathology in a mouse model of infantile neuronal ceroid lipofuscinosis.
    Sarkar C, Sadhukhan T, Bagh MB, Appu AP, Chandra G, Mondal A, Saha A, Mukherjee AB.
    J Inherit Metab Dis; 2020 Sep; 43(5):1082-1101. PubMed ID: 32279353
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  • 23. Palmitoyl protein thioesterase 1 is targeted to the axons in neurons.
    Ahtiainen L, Van Diggelen OP, Jalanko A, Kopra O.
    J Comp Neurol; 2003 Jan 13; 455(3):368-77. PubMed ID: 12483688
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  • 24. CRISPR/Cas9 mediated generation of an ovine model for infantile neuronal ceroid lipofuscinosis (CLN1 disease).
    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.
    Sci Rep; 2019 Jul 09; 9(1):9891. PubMed ID: 31289301
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  • 25. Glial activation spreads from specific cerebral foci and precedes neurodegeneration in presymptomatic ovine neuronal ceroid lipofuscinosis (CLN6).
    Oswald MJ, Palmer DN, Kay GW, Shemilt SJ, Rezaie P, Cooper JD.
    Neurobiol Dis; 2005 Oct 09; 20(1):49-63. PubMed ID: 16137566
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  • 26. Late infantile neuronal ceroid lipofuscinosis: a new mutation in Arabs.
    Goldberg-Stern H, Halevi A, Marom D, Straussberg R, Mimouni-Bloch A.
    Pediatr Neurol; 2009 Oct 09; 41(4):297-300. PubMed ID: 19748052
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  • 28. Immune cells perturb axons and impair neuronal survival in a mouse model of infantile neuronal ceroid lipofuscinosis.
    Groh J, Kühl TG, Ip CW, Nelvagal HR, Sri S, Duckett S, Mirza M, Langmann T, Cooper JD, Martini R.
    Brain; 2013 Apr 09; 136(Pt 4):1083-101. PubMed ID: 23485853
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  • 29. Cln1 gene disruption in mice reveals a common pathogenic link between two of the most lethal childhood neurodegenerative lysosomal storage disorders.
    Chandra G, Bagh MB, Peng S, Saha A, Sarkar C, Moralle M, Zhang Z, Mukherjee AB.
    Hum Mol Genet; 2015 Oct 01; 24(19):5416-32. PubMed ID: 26160911
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  • 31. Identification and characterization of Caenorhabditis elegans palmitoyl protein thioesterase1.
    Porter MY, Turmaine M, Mole SE.
    J Neurosci Res; 2005 Mar 15; 79(6):836-48. PubMed ID: 15672447
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  • 32. Palmitoyl-protein thioesterase-1 deficiency mediates the activation of the unfolded protein response and neuronal apoptosis in INCL.
    Zhang Z, Lee YC, Kim SJ, Choi MS, Tsai PC, Xu Y, Xiao YJ, Zhang P, Heffer A, Mukherjee AB.
    Hum Mol Genet; 2006 Jan 15; 15(2):337-46. PubMed ID: 16368712
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  • 34. Compromised astrocyte function and survival negatively impact neurons in infantile neuronal ceroid lipofuscinosis.
    Lange J, Haslett LJ, Lloyd-Evans E, Pocock JM, Sands MS, Williams BP, Cooper JD.
    Acta Neuropathol Commun; 2018 Aug 08; 6(1):74. PubMed ID: 30089511
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  • 37. CNS-directed AAV2-mediated gene therapy ameliorates functional deficits in a murine model of infantile neuronal ceroid lipofuscinosis.
    Griffey MA, Wozniak D, Wong M, Bible E, Johnson K, Rothman SM, Wentz AE, Cooper JD, Sands MS.
    Mol Ther; 2006 Mar 08; 13(3):538-47. PubMed ID: 16364693
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  • 38. Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.
    Mitchison HM, Hofmann SL, Becerra CH, Munroe PB, Lake BD, Crow YJ, Stephenson JB, Williams RE, Hofman IL, Taschner PE, Martin JJ, Philippart M, Andermann E, Andermann F, Mole SE, Gardiner RM, O'Rawe AM.
    Hum Mol Genet; 1998 Feb 08; 7(2):291-7. PubMed ID: 9425237
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  • 40. Proteomic Profiling in the Brain of CLN1 Disease Model Reveals Affected Functional Modules.
    Tikka S, Monogioudi E, Gotsopoulos A, Soliymani R, Pezzini F, Scifo E, Uusi-Rauva K, Tyynelä J, Baumann M, Jalanko A, Simonati A, Lalowski M.
    Neuromolecular Med; 2016 Mar 08; 18(1):109-33. PubMed ID: 26707855
    [Abstract] [Full Text] [Related]

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