These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
22. A novel in-frame mutation in 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; 129(9):890-895. PubMed ID: 30892110 [No Abstract] [Full Text] [Related]
23. Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice. Gupta P; Soyombo AA; Atashband A; Wisniewski KE; Shelton JM; Richardson JA; Hammer RE; Hofmann SL Proc Natl Acad Sci U S A; 2001 Nov; 98(24):13566-71. PubMed ID: 11717424 [TBL] [Abstract][Full Text] [Related]
24. [From gene to disease; from CLN1, CLN2 and CLN3 to neuronal ceroid lipofuscinosis]. Taschner PE; Losekoot M; Breuning MH; Hofman I; van Diggelen OP Ned Tijdschr Geneeskd; 2005 Feb; 149(6):300-3. PubMed ID: 15730038 [TBL] [Abstract][Full Text] [Related]
25. Loss of the Batten disease gene CLN3 prevents exit from the TGN of the mannose 6-phosphate receptor. Metcalf DJ; Calvi AA; Seaman MNj; Mitchison HM; Cutler DF Traffic; 2008 Nov; 9(11):1905-14. PubMed ID: 18817525 [TBL] [Abstract][Full Text] [Related]
26. The neuronal ceroid lipofuscinoses: mutations in different proteins result in similar disease. Weimer JM; Kriscenski-Perry E; Elshatory Y; Pearce DA Neuromolecular Med; 2002; 1(2):111-24. PubMed ID: 12025857 [TBL] [Abstract][Full Text] [Related]
27. 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; 7(1):222. PubMed ID: 31888773 [TBL] [Abstract][Full Text] [Related]
28. Converging roles of PSENEN/PEN2 and CLN3 in the autophagy-lysosome system. Klein M; Kaleem A; Oetjen S; Wünkhaus D; Binkle L; Schilling S; Gjorgjieva M; Scholz R; Gruber-Schoffnegger D; Storch S; Kins S; Drewes G; Hoffmeister-Ullerich S; Kuhl D; Hermey G Autophagy; 2022 Sep; 18(9):2068-2085. PubMed ID: 34964690 [TBL] [Abstract][Full Text] [Related]
29. 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 [TBL] [Abstract][Full Text] [Related]
30. 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(2):337-46. PubMed ID: 16368712 [TBL] [Abstract][Full Text] [Related]
31. 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; 21(21):. PubMed ID: 33137890 [TBL] [Abstract][Full Text] [Related]
32. 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 [TBL] [Abstract][Full Text] [Related]
33. Altered glutamate receptor function in the cerebellum of the Ppt1-/- mouse, a murine model of infantile neuronal ceroid lipofuscinosis. Finn R; Kovács AD; Pearce DA J Neurosci Res; 2012 Feb; 90(2):367-75. PubMed ID: 21971706 [TBL] [Abstract][Full Text] [Related]
34. Disruption of adaptive energy metabolism and elevated ribosomal p-S6K1 levels contribute to INCL pathogenesis: partial rescue by resveratrol. Wei H; Zhang Z; Saha A; Peng S; Chandra G; Quezado Z; Mukherjee AB Hum Mol Genet; 2011 Mar; 20(6):1111-21. PubMed ID: 21224254 [TBL] [Abstract][Full Text] [Related]
35. 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; 58(6):648-55. PubMed ID: 21315126 [TBL] [Abstract][Full Text] [Related]
36. Microglia in juvenile neuronal ceroid lipofuscinosis are primed toward a pro-inflammatory phenotype. Xiong J; Kielian T J Neurochem; 2013 Oct; 127(2):245-58. PubMed ID: 23919525 [TBL] [Abstract][Full Text] [Related]
37. Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population. Teixeira C; Guimarães A; Bessa C; Ferreira MJ; Lopes L; Pinto E; Pinto R; Boustany RM; Sá Miranda MC; Ribeiro MG J Neurol; 2003 Jun; 250(6):661-7. PubMed ID: 12796825 [TBL] [Abstract][Full Text] [Related]