Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 GeneticVariation disease BEFREE Classical late-infantile neuronal ceroid lipofuscinosis (LINCL; CLN2) is an inherited neurodegenerative disorder of childhood characterized by seizures, loss of vision, and progressive motor and mental deterioration. 10737126 1998
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 GeneticVariation disease BEFREE Classic late-infantile NCL (Jansky-Bielschowsky disease) is caused by mutations in a gene encoding a pepstatin-insensitive lysosomal peptidase (CLN2 on chromosome 11p15), and juvenile-onset NCL (Batten disease) is caused by mutations in a gene encoding a 438-amino-acid membrane protein (CLN3 on chromosome 16p12) of unknown function. 10446748 1999
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 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 AlteredExpression disease BEFREE To confirm clinical suspicion of CLN2 disease, the recommended gold standard for laboratory diagnosis is demonstration of deficient TPP1 enzyme activity (in leukocytes, fibroblasts, or dried blood spots) and the identification of causative mutations in each allele of the TPP1/CLN2 gene. 27553878 2016
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 Structural organization and sequence of CLN2, the defective gene in classical late infantile neuronal ceroid lipofuscinosis. 9653647 1998
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 GeneticVariation disease BEFREE We identified a novel nonsense CLN2 mutation (Q509X) in three Italian children with classical late-infantile neuronal ceroid lipofuscinosis (LINCL) from two unrelated families. 10862088 2000
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 BEFREE Specifically, we labeled adeno-associated virus serotype 10 expressing the coding sequences for the CLN2 gene implicated in late infantile neuronal ceroid lipofuscinosis with iodine-124. 28059103 2017
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 AlteredExpression disease BEFREE Recently, the LINCL gene (CLN2) has been found to code for a pepstatin-insensitive lysosomal protease whose activity is deficient in LINCL specimens. 10665500 2000
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 GeneticVariation disease BEFREE Late infantile neuronal ceroid lipofuscinosis (Jansky-Bielchowsky disease) is a rare disease caused by mutations in the CLN2 gene. 22832778 2013
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 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
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 AlteredExpression disease BEFREE Finally, a robust brain accumulation of EV carriers and increased lifespan is recorded in late-infantile neuronal ceroid lipofuscinosis (LINCL) mouse model following intraperitoneal administration of EV-TPP1. 30997751 2019
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 Biomarker disease BEFREE Late infantile neuronal ceroid lipofuscinosis (LINCL) is a fatal inherited neurodegenerative disease caused by loss of lysosomal protease tripeptidyl peptidase 1 (TPP1). 28345005 2017
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 Biomarker disease BEFREE Recombinant human tripeptidyl peptidase 1 (cerliponase alfa) is an enzyme-replacement therapy that has been developed to treat neuronal ceroid lipofuscinosis type 2 (CLN2) disease, a rare lysosomal disorder that causes progressive dementia in children. 29688815 2018
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 Biomarker disease BEFREE Untargeted Metabolite Profiling of Cerebrospinal Fluid Uncovers Biomarkers for Severity of Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2, Batten Disease). 30323181 2018
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 aim of this study was to characterize the pathological and functional consequences of Tpp1 deficiency in zebrafish and to correlate these with human CLN2 disease, thereby providing a platform for drug discovery. 23587805 2013
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 GeneticVariation disease BEFREE As previous reports show that the majority of the TPP1 mutations in NCL resulted in reduction or loss of enzyme activity, we suggest that <i>Dicyostelium</i> could be used as a model system in which to test new reagents that could affect the activity of the protein and ameliorate the disease. 28546289 2017
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 Biomarker disease BEFREE We consider our TPP1 test on DBS to be a reliable, convenient and inexpensive tool for a first diagnostic step in suspected CLN2 disease. 30771299 2019
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 GeneticVariation disease BEFREE Late-infantile neuronal ceroid lipofuscinosis (LINCL), an autosomal recessively inherited lysosomal storage disorder characterized by autofluorescent inclusions and rapid progression of neurodegeneration, is due to CLN2 gene mutations. 11339651 2001
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 GeneticVariation disease BEFREE CLN2 disease is a hereditary neurodegenerative disorder resulting from mutations in CLN2, which encodes the soluble lysosomal enzyme tripeptidyl peptidase-1 (TPP1). 24938720 2014