Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 GeneticVariation disease BEFREE Successful PGD for late infantile neuronal ceroid lipofuscinosis achieved by combined chromosome and TPP1 gene analysis. 23768618 2013
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 Biomarker disease BEFREE TPP1, encoding the tripeptidyl-peptidase 1 enzyme, is known as the causative gene for late infantile neuronal ceroid lipofuscinosis disease 2 (CLN2 disease). 23418007 2013
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 Biomarker disease BEFREE Our prior studies showed that delivery of the human CLN2 cDNA directly to the CNS, using an adeno-associated virus serotype 2 (AAV2) vector, is safe in children with LINCL. 23131032 2012
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 Biomarker disease BEFREE These results demonstrate for the first time in a large animal model of LINCL widespread delivery of biochemically active TPP1 to the brain after IT administration along with a decrease in lysosomal storage material. 21784683 2011
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 Biomarker disease BEFREE The authors conducted a phase I study of late infantile neuronal ceroid lipofuscinosis using an adenoassociated virus serotype 2 (AAV2) vector containing the deficient CLN2 gene (AAV2(CU)hCLN2). 20672930 2010
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 Biomarker disease BEFREE There are 35 missense mutations among 68 different mutations in the TPP1 gene, which encodes tripeptidyl peptidase I (TPPI), a lysosomal aminopeptidase associated with classic late-infantile neuronal ceroid lipofuscinosis (CLN2 disease). 20340139 2010
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 Biomarker disease BEFREE Tripeptidyl aminopeptidase I (TPPI) is a crucial lysosomal enzyme that is deficient in the fatal neurodegenerative disorder called classic late-infantile neuronal ceroid lipofuscinosis (LINCL). 20689811 2010
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 GeneticVariation disease BEFREE These data provide new insights into TPP1 function and represent a valuable resource for constructing improved TPP1 variants for treatment of late infantile neuronal ceroid lipofuscinosis. 19038967 2009
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 GeneticVariation disease BEFREE 28 disease-causing missense mutations are analyzed in the light of the TPP1 structure providing insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis. 19038966 2009
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 Biomarker disease BEFREE Subsequently, we tested if intraventricular delivery of TPP1 to the LINCL mouse was efficacious. 18362923 2008
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 Biomarker disease MGD Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis. 18343701 2008
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 Biomarker disease BEFREE A total average dose of 2.5 10(12) particle units of an adeno-associated virus (AAV) serotype 2 vector expressing the human CLN2 cDNA (AAV2 CU h-CLN2) was administered to 12 locations in the CNS of 10 children with LINCL. 18473686 2008
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 GeneticVariation disease BEFREE Most of the patients, 9 of 11 (81.8%), were CLN2 type (late-infantile neuronal ceroid lipofuscinosis or Jansky-Bielschowsky), and 2 patients were the atypical type. 17690061 2007
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 GeneticVariation disease BEFREE Mutations in tripeptidyl-peptidase I (TPP I) underlie the classic late-infantile form of neuronal ceroid lipofuscinoses (CLN2), the most common neurodegenerative disorders of childhood. 16895480 2006
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 AlteredExpression disease BEFREE This study demonstrates that AAV-mediated TPP1 enzyme replacement corrects the hallmark cellular pathologies of cLINCL in the mouse model and raises the possibility of using AAV gene therapy to treat cLINCL patients. 16452657 2006
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 AlteredExpression disease BEFREE In vitro studies demonstrated that AAV2CUhCLN2 expressed CLN2 and produced biologically active TPP-I protein of which a fraction was secreted as the pro-TPP-I precursor and was taken up by nontransduced cells (ie, cross-correction). 16052206 2005
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 Biomarker disease BEFREE To assess this concept, an adeno-associated virus vector (AAV2CUh-CLN2) will be used to transfer to and express the human CLN2 cDNA in the brain of children with LINCL. 15610613 2004
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 Biomarker disease BEFREE Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes. 15317752 2004
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 Biomarker disease MGD 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. 15483130 2004
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 Biomarker disease BEFREE Late infantile neuronal ceroid lipofuscinosis (LINCL) is caused by the deficiency of the lysosomal tripeptidyl peptidase-I encoded by CLN2. 14736728 2004
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 Biomarker disease BEFREE Our results indicate the feasibility of vector-mediated gene transfer of TPP-I to the CNS as a potential therapy for LINCL. 12525835 2003
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 GeneticVariation disease BEFREE R208X mutation in CLN2 gene associated with reduced cerebrospinal fluid pterins in a girl with classic late infantile neuronal ceroid lipofuscinosis. 12950156 2003
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 Biomarker disease BEFREE Our laboratory has developed a diagnostic service for classical late infantile neuronal ceroid lipofuscinosis (LINCL) by assay of tripeptidyl-peptidase I (TPP-I) activity using the fluorogenic peptide substrate Ala-Ala-Phe aminomethylcoumarin, followed by a screen for three mutations in the CLN2 gene. 11588997 2001
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 AlteredExpression disease BEFREE The expression of unequivocal TPP-I deficiency in CV demonstrates that enzyme assay is a reliable option for prenatal diagnosis of LINCL. 11241534 2001
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 Biomarker disease BEFREE An assay for the CLN2p/TPP-I based on the cleavage of amino terminal tripeptide from G-F-F-L-AFC was applied to prenatal and postnatal diagnosis of LINCL patients and heterozygote carriers. 11589010 2001