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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 [TBL] [Abstract][Full Text] [Related]
3. 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; 1866(10):165883. PubMed ID: 32592935 [TBL] [Abstract][Full Text] [Related]
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5. Partial correction of the CNS lysosomal storage defect in a mouse model of juvenile neuronal ceroid lipofuscinosis by neonatal CNS administration of an adeno-associated virus serotype rh.10 vector expressing the human CLN3 gene. Sondhi D; Scott EC; Chen A; Hackett NR; Wong AM; Kubiak A; Nelvagal HR; Pearse Y; Cotman SL; Cooper JD; Crystal RG Hum Gene Ther; 2014 Mar; 25(3):223-39. PubMed ID: 24372003 [TBL] [Abstract][Full Text] [Related]
7. 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; 17(2):303-12. PubMed ID: 17947292 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. Role of the Lysosomal Membrane Protein, CLN3, in the Regulation of Cathepsin D Activity. Cárcel-Trullols J; Kovács AD; Pearce DA J Cell Biochem; 2017 Nov; 118(11):3883-3890. PubMed ID: 28390177 [TBL] [Abstract][Full Text] [Related]
10. A novel role of the Batten disease gene CLN3: association with BMP synthesis. Hobert JA; Dawson G Biochem Biophys Res Commun; 2007 Jun; 358(1):111-6. PubMed ID: 17482562 [TBL] [Abstract][Full Text] [Related]
17. Immunomodulation with minocycline rescues retinal degeneration in juvenile neuronal ceroid lipofuscinosis mice highly susceptible to light damage. Dannhausen K; Möhle C; Langmann T Dis Model Mech; 2018 Sep; 11(9):. PubMed ID: 30042155 [TBL] [Abstract][Full Text] [Related]
18. A human model of Batten disease shows role of CLN3 in phagocytosis at the photoreceptor-RPE interface. Tang C; Han J; Dalvi S; Manian K; Winschel L; Volland S; Soto CA; Galloway CA; Spencer W; Roll M; Milliner C; Bonilha VL; Johnson TB; Latchney L; Weimer JM; Augustine EF; Mink JW; Gullapalli VK; Chung M; Williams DS; Singh R Commun Biol; 2021 Feb; 4(1):161. PubMed ID: 33547385 [TBL] [Abstract][Full Text] [Related]
19. Juvenile CLN3 disease is a lysosomal cholesterol storage disorder: similarities with Niemann-Pick type C disease. Chen J; Soni RK; Xu Y; Simoes S; Liang FX; DeFreitas L; Hwang R; Montesinos J; Lee JH; Area-Gomez E; Nandakumar R; Vardarajan B; Marquer C EBioMedicine; 2023 Jun; 92():104628. PubMed ID: 37245481 [TBL] [Abstract][Full Text] [Related]