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 *

213 related articles for article (PubMed ID: 16720047)

  • 21. Tripeptidyl-peptidase I in neuronal ceroid lipofuscinoses and other lysosomal storage disorders.
    Wisniewski KE; Kida E; Walus M; Wujek P; Kaczmarski W; Golabek AA
    Eur J Paediatr Neurol; 2001; 5 Suppl A():73-9. PubMed ID: 11589013
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. Mouse gene knockout models for the CLN2 and CLN3 forms of ceroid lipofuscinosis.
    Katz ML; Johnson GS
    Eur J Paediatr Neurol; 2001; 5 Suppl A():109-14. PubMed ID: 11588979
    [TBL] [Abstract][Full Text] [Related]  

  • 24. [Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation].
    Bukina AM; Tsvetkova IV; Semiachkina AN; Il'ina ES
    Vopr Med Khim; 2002; 48(6):594-8. PubMed ID: 12698559
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.
    Steinfeld R; Heim P; von Gregory H; Meyer K; Ullrich K; Goebel HH; Kohlschütter A
    Am J Med Genet; 2002 Nov; 112(4):347-54. PubMed ID: 12376936
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis.
    Awano T; Katz ML; O'Brien DP; Sohar I; Lobel P; Coates JR; Khan S; Johnson GC; Giger U; Johnson GS
    Mol Genet Metab; 2006 Nov; 89(3):254-60. PubMed ID: 16621647
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Biochemistry of neuronal ceroid lipofuscinoses.
    Junaid MA; Pullarkat RK
    Adv Genet; 2001; 45():93-106. PubMed ID: 11332778
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3.
    Vesa J; Chin MH; Oelgeschläger K; Isosomppi J; DellAngelica EC; Jalanko A; Peltonen L
    Mol Biol Cell; 2002 Jul; 13(7):2410-20. PubMed ID: 12134079
    [TBL] [Abstract][Full Text] [Related]  

  • 30. The novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy.
    Miller JN; Kovács AD; Pearce DA
    Hum Mol Genet; 2015 Jan; 24(1):185-96. PubMed ID: 25205113
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Multifocal retinopathy in Dachshunds with CLN2 neuronal ceroid lipofuscinosis.
    Whiting RE; Pearce JW; Castaner LJ; Jensen CA; Katz RJ; Gilliam DH; Katz ML
    Exp Eye Res; 2015 May; 134():123-32. PubMed ID: 25697710
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Genotype-phenotype analyses of classic neuronal ceroid lipofuscinosis (NCLs): genetic predictions from clinical and pathological findings.
    Ju W; Wronska A; Moroziewicz DN; Zhong R; Wisniewski N; Jurkiewicz A; Fiory M; Wisniewski KE; Johnston L; Brown WT; Zhong N
    Beijing Da Xue Xue Bao Yi Xue Ban; 2006 Feb; 38(1):41-8. PubMed ID: 16415965
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency.
    Bessa C; Teixeira CA; Mangas M; Dias A; Sá Miranda MC; Guimarães A; Ferreira JC; Canas N; Cabral P; Ribeiro MG
    Mol Genet Metab; 2006 Nov; 89(3):245-53. PubMed ID: 16814585
    [TBL] [Abstract][Full Text] [Related]  

  • 34. R208X mutation in CLN2 gene associated with reduced cerebrospinal fluid pterins in a girl with classic late infantile neuronal ceroid lipofuscinosis.
    Barisić N; Logan P; Pikija S; Skarpa D; Blau N
    Croat Med J; 2003 Aug; 44(4):489-93. PubMed ID: 12950156
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Rapid detection of the two most common CLN2 mutations causing classical late infantile neuronal ceroid lipofuscinosis.
    Bodzioch M; Aslanidis C; Kacinski M; Zhong N; Wisniewski KE; Schmitz G
    Clin Chem; 2000 Oct; 46(10):1696-9. PubMed ID: 11017954
    [No Abstract]   [Full Text] [Related]  

  • 36. Searching for interacting partners of CLN1, CLN2 and Btn1p with the two-hybrid system.
    Cottone CD; Chattopadhyay S; Pearce DA
    Eur J Paediatr Neurol; 2001; 5 Suppl A():95-8. PubMed ID: 11589016
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Neuronal ceroid lipofuscinosis: late infantile or Jansky Bielschowsky type--re-revisited.
    Wheeler RB; Schlie M; Kominami E; Gerhard L; Goebel HH
    Acta Neuropathol; 2001 Nov; 102(5):485-8. PubMed ID: 11699562
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2).
    Hofmann SL; Atashband A; Cho SK; Das AK; Gupta P; Lu JY
    Curr Mol Med; 2002 Aug; 2(5):423-37. PubMed ID: 12125808
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Proteomic Analysis of Brain and Cerebrospinal Fluid from the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Potential Biomarkers.
    Sleat DE; Tannous A; Sohar I; Wiseman JA; Zheng H; Qian M; Zhao C; Xin W; Barone R; Sims KB; Moore DF; Lobel P
    J Proteome Res; 2017 Oct; 16(10):3787-3804. PubMed ID: 28792770
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses.
    Sima N; Li R; Huang W; Xu M; Beers J; Zou J; Titus S; Ottinger EA; Marugan JJ; Xie X; Zheng W
    Orphanet J Rare Dis; 2018 Apr; 13(1):54. PubMed ID: 29631617
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.