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Journal Abstract Search
494 related items for PubMed ID: 16435200
1. Deletion of the Caenorhabditis elegans homologues of the CLN3 gene, involved in human juvenile neuronal ceroid lipofuscinosis, causes a mild progeric phenotype. de Voer G, van der Bent P, Rodrigues AJ, van Ommen GJ, Peters DJ, Taschner PE. J Inherit Metab Dis; 2005; 28(6):1065-80. PubMed ID: 16435200 [Abstract] [Full Text] [Related]
2. Caenorhabditis elegans homologues of the CLN3 gene, mutated in juvenile neuronal ceroid lipofuscinosis. De Voer G, Jansen G, van Ommen GJ, Peters DJ, Taschner PE. Eur J Paediatr Neurol; 2001; 5 Suppl A():115-20. PubMed ID: 11588981 [Abstract] [Full Text] [Related]
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; 42(5):944-954. PubMed ID: 31025705 [Abstract] [Full Text] [Related]
9. 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 [Abstract] [Full Text] [Related]
10. Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL). Järvelä I, Lehtovirta M, Tikkanen R, Kyttälä A, Jalanko A. Hum Mol Genet; 1999 Jun 01; 8(6):1091-8. PubMed ID: 10332042 [Abstract] [Full Text] [Related]
13. Altered flurothyl seizure induction latency, phenotype, and subsequent mortality in a mouse model of juvenile neuronal ceroid lipofuscinosis/batten disease. Kriscenski-Perry E, Applegate CD, Serour A, Mhyre TR, Leonardo CC, Pearce DA. Epilepsia; 2002 Oct 01; 43(10):1137-40. PubMed ID: 12366726 [Abstract] [Full Text] [Related]
16. Current Insights in Elucidation of Possible Molecular Mechanisms of the Juvenile Form of Batten Disease. Shematorova EK, Shpakovski GV. Int J Mol Sci; 2020 Oct 29; 21(21):. PubMed ID: 33137890 [Abstract] [Full Text] [Related]
17. Altered gene expression in the eye of a mouse model for batten disease. Chattopadhyay S, Kingsley E, Serour A, Curran TM, Brooks AI, Pearce DA. Invest Ophthalmol Vis Sci; 2004 Sep 29; 45(9):2893-905. PubMed ID: 15326100 [Abstract] [Full Text] [Related]
18. A novel mutation af Cln3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy. Licchetta L, Bisulli F, Fietz M, Valentino ML, Morbin M, Mostacci B, Oliver KL, Berkovic SF, Tinuper P. Eur J Med Genet; 2015 Oct 29; 58(10):540-4. PubMed ID: 26360874 [Abstract] [Full Text] [Related]