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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

199 related articles for article (PubMed ID: 18343701)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. Diagnosis of late-infantile neuronal ceroid lipofuscinosis using dried blood spot-based assay for TPPI enzyme activity: TPPI diagnostic assay from DBS.
    Gavin M; Khatoon S; Marchi EJ; Mevs CA; Bolton DC; Velinov MT; Junaid MA
    Clin Chim Acta; 2020 Aug; 507():62-68. PubMed ID: 32298681
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. A critical tryptophan and Ca2+ in activation and catalysis of TPPI, the enzyme deficient in classic late-infantile neuronal ceroid lipofuscinosis.
    Kuizon S; DiMaiuta K; Walus M; Jenkins EC; Kuizon M; Kida E; Golabek AA; Espinoza DO; Pullarkat RK; Junaid MA
    PLoS One; 2010 Aug; 5(8):e11929. PubMed ID: 20689811
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes.
    Steinfeld R; Steinke HB; Isbrandt D; Kohlschütter A; Gärtner J
    Hum Mol Genet; 2004 Oct; 13(20):2483-91. PubMed ID: 15317752
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. Exclusion of late infantile neuronal ceroid lipofuscinosis (LINCL) in a fetus by assay of tripeptidyl peptidase I in chorionic villi.
    Young EP; Winchester BG; Peter Logan W; Wheeler RB; Lake BD
    Prenat Diagn; 2000 Apr; 20(4):337-9. PubMed ID: 10740208
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Lysosomal degradation of cholecystokinin-(29-33)-amide in mouse brain is dependent on tripeptidyl peptidase-I: implications for the degradation and storage of peptides in classical late-infantile neuronal ceroid lipofuscinosis.
    Bernardini F; Warburton MJ
    Biochem J; 2002 Sep; 366(Pt 2):521-9. PubMed ID: 12038963
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Inducible transgenic expression of tripeptidyl peptidase 1 in a mouse model of late-infantile neuronal ceroid lipofuscinosis.
    Nemtsova Y; Wiseman JA; El-Banna M; Lobel P; Sleat DE
    PLoS One; 2018; 13(2):e0192286. PubMed ID: 29408933
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Developmental study of tripeptidyl peptidase I activity in the mouse central nervous system and peripheral organs.
    Dimitrova M; Deleva D; Pavlova V; Ivanov I
    Cell Tissue Res; 2011 Nov; 346(2):141-9. PubMed ID: 21996941
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Tripeptidyl-peptidase I deficiency in classical late-infantile neuronal ceroid lipofuscinosis brain tissue. Evidence for defective peptidase rather than proteinase activity.
    Warburton MJ; Bernardini F
    J Inherit Metab Dis; 2000 Mar; 23(2):145-54. PubMed ID: 10801056
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I.
    Walus M; Kida E; Golabek AA
    Hum Mutat; 2010 Jun; 31(6):710-21. PubMed ID: 20340139
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.