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4. Intracranial delivery of CLN2 reduces brain pathology in a mouse model of classical late infantile neuronal ceroid lipofuscinosis. Passini MA; Dodge JC; Bu J; Yang W; Zhao Q; Sondhi D; Hackett NR; Kaminsky SM; Mao Q; Shihabuddin LS; Cheng SH; Sleat DE; Stewart GR; Davidson BL; Lobel P; Crystal RG J Neurosci; 2006 Feb; 26(5):1334-42. PubMed ID: 16452657 [TBL] [Abstract][Full Text] [Related]
5. Biochemical characterization of a lysosomal protease deficient in classical late infantile neuronal ceroid lipofuscinosis (LINCL) and development of an enzyme-based assay for diagnosis and exclusion of LINCL in human specimens and animal models. Sohar I; Sleat DE; Jadot M; Lobel P J Neurochem; 1999 Aug; 73(2):700-11. PubMed ID: 10428067 [TBL] [Abstract][Full Text] [Related]
6. A mouse model of classical late-infantile neuronal ceroid lipofuscinosis based on targeted disruption of the CLN2 gene results in a loss of tripeptidyl-peptidase I activity and progressive neurodegeneration. Sleat DE; Wiseman JA; El-Banna M; Kim KH; Mao Q; Price S; Macauley SL; Sidman RL; Shen MM; Zhao Q; Passini MA; Davidson BL; Stewart GR; Lobel P J Neurosci; 2004 Oct; 24(41):9117-26. PubMed ID: 15483130 [TBL] [Abstract][Full Text] [Related]
7. Dipeptidyl-peptidase I does not functionally compensate for the loss of tripeptidyl-peptidase I in the neurodegenerative disease late-infantile neuronal ceroid lipofuscinosis. Kim KH; Pham CT; Sleat DE; Lobel P Biochem J; 2008 Oct; 415(2):225-32. PubMed ID: 18570628 [TBL] [Abstract][Full Text] [Related]
8. Upregulation of tripeptidyl-peptidase 1 by 3-hydroxy-(2,2)-dimethyl butyrate, a brain endogenous ligand of PPARα: Implications for late-infantile Batten disease therapy. Chakrabarti S; Chandra S; Roy A; Dasarathi S; Kundu M; Pahan K Neurobiol Dis; 2019 Jul; 127():362-373. PubMed ID: 30928643 [TBL] [Abstract][Full Text] [Related]
9. Intrathecal tripeptidyl-peptidase 1 reduces lysosomal storage in a canine model of late infantile neuronal ceroid lipofuscinosis. Vuillemenot BR; Katz ML; Coates JR; Kennedy D; Tiger P; Kanazono S; Lobel P; Sohar I; Xu S; Cahayag R; Keve S; Koren E; Bunting S; Tsuruda LS; O'Neill CA Mol Genet Metab; 2011 Nov; 104(3):325-37. PubMed ID: 21784683 [TBL] [Abstract][Full Text] [Related]
10. Enzyme replacement therapy delays pupillary light reflex deficits in a canine model of late infantile neuronal ceroid lipofuscinosis. Whiting RE; Narfström K; Yao G; Pearce JW; Coates JR; Castaner LJ; Jensen CA; Dougherty BN; Vuillemenot BR; Kennedy D; O'Neill CA; Katz ML Exp Eye Res; 2014 Aug; 125():164-72. PubMed ID: 24954537 [TBL] [Abstract][Full Text] [Related]
11. Large-volume intrathecal enzyme delivery increases survival of a mouse model of late infantile neuronal ceroid lipofuscinosis. Xu S; Wang L; El-Banna M; Sohar I; Sleat DE; Lobel P Mol Ther; 2011 Oct; 19(10):1842-8. PubMed ID: 21730969 [TBL] [Abstract][Full Text] [Related]
12. AAV2-mediated CLN2 gene transfer to rodent and non-human primate brain results in long-term TPP-I expression compatible with therapy for LINCL. Sondhi D; Peterson DA; Giannaris EL; Sanders CT; Mendez BS; De B; Rostkowski AB; Blanchard B; Bjugstad K; Sladek JR; Redmond DE; Leopold PL; Kaminsky SM; Hackett NR; Crystal RG Gene Ther; 2005 Nov; 12(22):1618-32. PubMed ID: 16052206 [TBL] [Abstract][Full Text] [Related]
13. Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis. Fietz M; AlSayed M; Burke D; Cohen-Pfeffer J; Cooper JD; Dvořáková L; Giugliani R; Izzo E; Jahnová H; Lukacs Z; Mole SE; Noher de Halac I; Pearce DA; Poupetova H; Schulz A; Specchio N; Xin W; Miller N Mol Genet Metab; 2016 Sep; 119(1-2):160-7. PubMed ID: 27553878 [TBL] [Abstract][Full Text] [Related]
14. Systemic administration of tripeptidyl peptidase I in a mouse model of late infantile neuronal ceroid lipofuscinosis: effect of glycan modification. Meng Y; Sohar I; Wang L; Sleat DE; Lobel P PLoS One; 2012; 7(7):e40509. PubMed ID: 22792360 [TBL] [Abstract][Full Text] [Related]
15. Glial fibrillary acidic protein is elevated in the lysosomal storage disease classical late-infantile neuronal ceroid lipofuscinosis, but is not a component of the storage material. Xu S; Sleat DE; Jadot M; Lobel P Biochem J; 2010 May; 428(3):355-62. PubMed ID: 20370715 [TBL] [Abstract][Full Text] [Related]
16. Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis. Sleat DE; El-Banna M; Sohar I; Kim KH; Dobrenis K; Walkley SU; Lobel P Mol Genet Metab; 2008 Jun; 94(2):222-33. PubMed ID: 18343701 [TBL] [Abstract][Full Text] [Related]
17. Enzyme replacement therapy attenuates disease progression in a canine model of late-infantile neuronal ceroid lipofuscinosis (CLN2 disease). Katz ML; Coates JR; Sibigtroth CM; Taylor JD; Carpentier M; Young WM; Wininger FA; Kennedy D; Vuillemenot BR; O'Neill CA J Neurosci Res; 2014 Nov; 92(11):1591-8. PubMed ID: 24938720 [TBL] [Abstract][Full Text] [Related]
18. Production and characterization of recombinant human CLN2 protein for enzyme-replacement therapy in late infantile neuronal ceroid lipofuscinosis. Lin L; Lobel P Biochem J; 2001 Jul; 357(Pt 1):49-55. PubMed ID: 11415435 [TBL] [Abstract][Full Text] [Related]
19. Survival advantage of neonatal CNS gene transfer for late infantile neuronal ceroid lipofuscinosis. Sondhi D; Peterson DA; Edelstein AM; del Fierro K; Hackett NR; Crystal RG Exp Neurol; 2008 Sep; 213(1):18-27. PubMed ID: 18639872 [TBL] [Abstract][Full Text] [Related]
20. Clinical protocol. Administration of a replication-deficient adeno-associated virus gene transfer vector expressing the human CLN2 cDNA to the brain of children with late infantile neuronal ceroid lipofuscinosis. Crystal RG; Sondhi D; Hackett NR; Kaminsky SM; Worgall S; Stieg P; Souweidane M; Hosain S; Heier L; Ballon D; Dinner M; Wisniewski K; Kaplitt M; Greenwald BM; Howell JD; Strybing K; Dyke J; Voss H Hum Gene Ther; 2004 Nov; 15(11):1131-54. PubMed ID: 15610613 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]