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183 related items for PubMed ID: 37078466
1. A mouse mutant deficient in both neuronal ceroid lipofuscinosis-associated proteins CLN3 and TPP1. Sleat DE, Banach-Petrosky W, Larrimore KE, Nemtsova Y, Wiseman JA, Najafi A, Johnson D, Poole TA, Takahashi K, Cooper JD, Lobel P. J Inherit Metab Dis; 2023 Jul; 46(4):720-734. PubMed ID: 37078466 [Abstract] [Full Text] [Related]
2. 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]
8. A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis. Kitzmüller C, Haines RL, Codlin S, Cutler DF, Mole SE. Hum Mol Genet; 2008 Jan 15; 17(2):303-12. PubMed ID: 17947292 [Abstract] [Full Text] [Related]
15. Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system. Staropoli JF, Haliw L, Biswas S, Garrett L, Hölter SM, Becker L, Skosyrski S, Da Silva-Buttkus P, Calzada-Wack J, Neff F, Rathkolb B, Rozman J, Schrewe A, Adler T, Puk O, Sun M, Favor J, Racz I, Bekeredjian R, Busch DH, Graw J, Klingenspor M, Klopstock T, Wolf E, Wurst W, Zimmer A, Lopez E, Harati H, Hill E, Krause DS, Guide J, Dragileva E, Gale E, Wheeler VC, Boustany RM, Brown DE, Breton S, Ruether K, Gailus-Durner V, Fuchs H, de Angelis MH, Cotman SL. PLoS One; 2012 Jan 15; 7(6):e38310. PubMed ID: 22701626 [Abstract] [Full Text] [Related]
16. 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 [Abstract] [Full Text] [Related]
18. 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 17; 129(9):890-895. PubMed ID: 30892110 [Abstract] [Full Text] [Related]