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Journal Abstract Search

291 related items for PubMed ID: 11588979

  • 41. Cynomolgus macaque model of neuronal ceroid lipofuscinosis type 2 disease.
    Munesue Y, Ageyama N, Kimura N, Takahashi I, Nakayama S, Okabayashi S, Katakai Y, Koie H, Yagami KI, Ishii K, Tamaoka A, Yasutomi Y, Shimozawa N.
    Exp Neurol; 2023 May; 363():114381. PubMed ID: 36918063
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  • 45. A tailored mouse model of CLN2 disease: A nonsense mutant for testing personalized therapies.
    Geraets RD, Langin LM, Cain JT, Parker CM, Beraldi R, Kovacs AD, Weimer JM, Pearce DA.
    PLoS One; 2017 May; 12(5):e0176526. PubMed ID: 28464005
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  • 46. Clinical protocol. Administration of a replication-deficient adeno-associated virus gene transfer vector expressing the human CLN2 cDNA to the brain of children with late infantile neuronal ceroid lipofuscinosis.
    Crystal RG, Sondhi D, Hackett NR, Kaminsky SM, Worgall S, Stieg P, Souweidane M, Hosain S, Heier L, Ballon D, Dinner M, Wisniewski K, Kaplitt M, Greenwald BM, Howell JD, Strybing K, Dyke J, Voss H.
    Hum Gene Ther; 2004 Nov; 15(11):1131-54. PubMed ID: 15610613
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  • 47. Morphological studies on CLN2.
    Goebel HH, Kominami E, Neuen-Jacob E, Wheeler RB.
    Eur J Paediatr Neurol; 2001 Nov; 5 Suppl A():203-7. PubMed ID: 11588998
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  • 48. Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons.
    Parviainen L, Dihanich S, Anderson GW, Wong AM, Brooks HR, Abeti R, Rezaie P, Lalli G, Pope S, Heales SJ, Mitchison HM, Williams BP, Cooper JD.
    Acta Neuropathol Commun; 2017 Oct 17; 5(1):74. PubMed ID: 29041969
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  • 49. An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients.
    Kohan R, Cismondi IA, Kremer RD, Muller VJ, Guelbert N, Anzolini VT, Fietz MJ, Ramírez AM, Halac IN.
    Clin Genet; 2009 Oct 17; 76(4):372-82. PubMed ID: 19793312
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  • 50. Neuronal ceroid lipofuscinosis: late infantile or Jansky Bielschowsky type--re-revisited.
    Wheeler RB, Schlie M, Kominami E, Gerhard L, Goebel HH.
    Acta Neuropathol; 2001 Nov 17; 102(5):485-8. PubMed ID: 11699562
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  • 51. The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland.
    Moore SJ, Buckley DJ, MacMillan A, Marshall HD, Steele L, Ray PN, Nawaz Z, Baskin B, Frecker M, Carr SM, Ives E, Parfrey PS.
    Clin Genet; 2008 Sep 17; 74(3):213-22. PubMed ID: 18684116
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  • 52. Prenatal testing for late infantile neuronal ceroid lipofuscinosis.
    Berry-Kravis E, Sleat DE, Sohar I, Meyer P, Donnelly R, Lobel P.
    Ann Neurol; 2000 Feb 17; 47(2):254-7. PubMed ID: 10665500
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  • 54. A lysosomal proteinase, the late infantile neuronal ceroid lipofuscinosis gene (CLN2) product, is essential for degradation of a hydrophobic protein, the subunit c of ATP synthase.
    Ezaki J, Tanida I, Kanehagi N, Kominami E.
    J Neurochem; 1999 Jun 17; 72(6):2573-82. PubMed ID: 10349869
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  • 56. A zebrafish model of CLN2 disease is deficient in tripeptidyl peptidase 1 and displays progressive neurodegeneration accompanied by a reduction in proliferation.
    Mahmood F, Fu S, Cooke J, Wilson SW, Cooper JD, Russell C.
    Brain; 2013 May 17; 136(Pt 5):1488-507. PubMed ID: 23587805
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  • 57. Structural organization and sequence of CLN2, the defective gene in classical late infantile neuronal ceroid lipofuscinosis.
    Liu CG, Sleat DE, Donnelly RJ, Lobel P.
    Genomics; 1998 Jun 01; 50(2):206-12. PubMed ID: 9653647
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  • 58. 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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  • 60. Mutated genes in juvenile and variant late infantile neuronal ceroid lipofuscinoses encode lysosomal proteins.
    Vesa J, Peltonen L.
    Curr Mol Med; 2002 Aug 01; 2(5):439-44. PubMed ID: 12125809
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