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5. 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]
6. A novel c.1135_1138delCTGT mutation in CLN3 leads to juvenile neuronal ceroid lipofuscinosis. Drack AV; Miller JN; Pearce DA J Child Neurol; 2013 Sep; 28(9):1112-6. PubMed ID: 23877479 [TBL] [Abstract][Full Text] [Related]
7. Gene correction of the CLN3 c.175G>A variant in patient-derived induced pluripotent stem cells prevents pathological changes in retinal organoids. Zhang X; Zhang D; Thompson JA; Chen SC; Huang Z; Jennings L; McLaren TL; Lamey TM; De Roach JN; Chen FK; McLenachan S Mol Genet Genomic Med; 2021 Mar; 9(3):e1601. PubMed ID: 33497524 [TBL] [Abstract][Full Text] [Related]
8. 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]
10. 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]
11. Profound infantile neuroretinal dysfunction in a heterozygote for the CLN3 genetic defect. de los Reyes E; Dyken PR; Phillips P; Brodsky M; Bates S; Glasier C; Mrak RE J Child Neurol; 2004 Jan; 19(1):42-6. PubMed ID: 15032383 [TBL] [Abstract][Full Text] [Related]
13. Antigen presenting cell abnormalities in the Cln3(-/-) mouse model of juvenile neuronal ceroid lipofuscinosis. Hersrud SL; Kovács AD; Pearce DA Biochim Biophys Acta; 2016 Jul; 1862(7):1324-36. PubMed ID: 27101989 [TBL] [Abstract][Full Text] [Related]
14. Deterioration of visual quality and acuity as the first sign of ceroid lipofuscinosis type 3 (CLN3), a rare neurometabolic disease. Purzycka-Olewiecka JK; Hetmańczyk-Sawicka K; Kmieć T; Szczęśniak D; Trubicka J; Krawczyński M; Pronicki M; Ługowska A Metab Brain Dis; 2023 Feb; 38(2):709-715. PubMed ID: 36576693 [TBL] [Abstract][Full Text] [Related]
16. 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; 43(10):1137-40. PubMed ID: 12366726 [TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]
20. Using Patient-Specific Induced Pluripotent Stem Cells and Wild-Type Mice to Develop a Gene Augmentation-Based Strategy to Treat CLN3-Associated Retinal Degeneration. Wiley LA; Burnight ER; Drack AV; Banach BB; Ochoa D; Cranston CM; Madumba RA; East JS; Mullins RF; Stone EM; Tucker BA Hum Gene Ther; 2016 Oct; 27(10):835-846. PubMed ID: 27400765 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]