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.
7. 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]
8. 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]
9. Timing of therapeutic intervention determines functional and survival outcomes in a mouse model of late infantile batten disease. Cabrera-Salazar MA; Roskelley EM; Bu J; Hodges BL; Yew N; Dodge JC; Shihabuddin LS; Sohar I; Sleat DE; Scheule RK; Davidson BL; Cheng SH; Lobel P; Passini MA Mol Ther; 2007 Oct; 15(10):1782-8. PubMed ID: 17637720 [TBL] [Abstract][Full Text] [Related]
10. Safety of direct administration of AAV2(CU)hCLN2, a candidate treatment for the central nervous system manifestations of late infantile neuronal ceroid lipofuscinosis, to the brain of rats and nonhuman primates. Hackett NR; Redmond DE; Sondhi D; Giannaris EL; Vassallo E; Stratton J; Qiu J; Kaminsky SM; Lesser ML; Fisch GS; Rouselle SD; Crystal RG Hum Gene Ther; 2005 Dec; 16(12):1484-503. PubMed ID: 16390279 [TBL] [Abstract][Full Text] [Related]
11. Intraventricular enzyme replacement improves disease phenotypes in a mouse model of late infantile neuronal ceroid lipofuscinosis. Chang M; Cooper JD; Sleat DE; Cheng SH; Dodge JC; Passini MA; Lobel P; Davidson BL Mol Ther; 2008 Apr; 16(4):649-56. PubMed ID: 18362923 [TBL] [Abstract][Full Text] [Related]
12. First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis. Kleijer WJ; van Diggelen OP; Keulemans JL; Losekoot M; Garritsen VH; Stroink H; Majoor-Krakauer D; Franken PF; Eurlings MC; Taschner PE; Los FJ; Galjaard RJ Prenat Diagn; 2001 Feb; 21(2):99-101. PubMed ID: 11241534 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. Slowing late infantile Batten disease by direct brain parenchymal administration of a rh.10 adeno-associated virus expressing Sondhi D; Kaminsky SM; Hackett NR; Pagovich OE; Rosenberg JB; De BP; Chen A; Van de Graaf B; Mezey JG; Mammen GW; Mancenido D; Xu F; Kosofsky B; Yohay K; Worgall S; Kaner RJ; Souwedaine M; Greenwald BM; Kaplitt M; Dyke JP; Ballon DJ; Heier LA; Kiss S; Crystal RG Sci Transl Med; 2020 Dec; 12(572):. PubMed ID: 33268510 [TBL] [Abstract][Full Text] [Related]
18. CLN2/TPP1 deficiency: the novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype. Bessa C; Teixeira CA; Dias A; Alves M; Rocha S; Lacerda L; Loureiro L; Guimarães A; Ribeiro MG Mol Genet Metab; 2008 Jan; 93(1):66-73. PubMed ID: 17959406 [TBL] [Abstract][Full Text] [Related]
19. Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene. Hartikainen JM; Ju W; Wisniewski KE; Moroziewicz DN; Kaczmarski AL; McLendon L; Zhong D; Suarez CT; Brown WT; Zhong N Mol Genet Metab; 1999 Jun; 67(2):162-8. PubMed ID: 10356316 [TBL] [Abstract][Full Text] [Related]
20. Expression and analysis of CLN2 variants in CHO cells: Q100R represents a polymorphism, and G389E and R447H represent loss-of-function mutations. Lin L; Lobel P Hum Mutat; 2001 Aug; 18(2):165. PubMed ID: 11462245 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]