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2. 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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4. Failure of Autophagy-Lysosomal Pathways in Rod Photoreceptors Causes the Early Retinal Degeneration Phenotype Observed in Cln6nclf Mice. von Eisenhart-Rothe P; Grubman A; Greferath U; Fothergill LJ; Jobling AI; Phipps JA; White AR; Fletcher EL; Vessey KA Invest Ophthalmol Vis Sci; 2018 Oct; 59(12):5082-5097. PubMed ID: 30372735 [TBL] [Abstract][Full Text] [Related]
5. Enzyme replacement therapy with recombinant pro-CTSD (cathepsin D) corrects defective proteolysis and autophagy in neuronal ceroid lipofuscinosis. Marques ARA; Di Spiezio A; Thießen N; Schmidt L; Grötzinger J; Lüllmann-Rauch R; Damme M; Storck SE; Pietrzik CU; Fogh J; Bär J; Mikhaylova M; Glatzel M; Bassal M; Bartsch U; Saftig P Autophagy; 2020 May; 16(5):811-825. PubMed ID: 31282275 [TBL] [Abstract][Full Text] [Related]
6. 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]
7. Transcript and in silico analysis of CLN3 in juvenile neuronal ceroid lipofuscinosis and associated mouse models. Chan CH; Mitchison HM; Pearce DA Hum Mol Genet; 2008 Nov; 17(21):3332-9. PubMed ID: 18678598 [TBL] [Abstract][Full Text] [Related]
8. Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue. Pohl S; Mitchison HM; Kohlschütter A; van Diggelen O; Braulke T; Storch S J Neurochem; 2007 Dec; 103(6):2177-88. PubMed ID: 17868323 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. Lysosomal-mediated waste clearance in retinal pigment epithelial cells is regulated by CRYBA1/βA3/A1-crystallin via V-ATPase-MTORC1 signaling. Valapala M; Wilson C; Hose S; Bhutto IA; Grebe R; Dong A; Greenbaum S; Gu L; Sengupta S; Cano M; Hackett S; Xu G; Lutty GA; Dong L; Sergeev Y; Handa JT; Campochiaro P; Wawrousek E; Zigler JS; Sinha D Autophagy; 2014 Mar; 10(3):480-96. PubMed ID: 24468901 [TBL] [Abstract][Full Text] [Related]
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12. Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis. Cao Y; Espinola JA; Fossale E; Massey AC; Cuervo AM; MacDonald ME; Cotman SL J Biol Chem; 2006 Jul; 281(29):20483-93. PubMed ID: 16714284 [TBL] [Abstract][Full Text] [Related]
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17. Retinal pathology and function in a Cln3 knockout mouse model of juvenile Neuronal Ceroid Lipofuscinosis (batten disease). Seigel GM; Lotery A; Kummer A; Bernard DJ; Greene ND; Turmaine M; Derksen T; Nussbaum RL; Davidson B; Wagner J; Mitchison HM Mol Cell Neurosci; 2002 Apr; 19(4):515-27. PubMed ID: 11988019 [TBL] [Abstract][Full Text] [Related]
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