Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 The late-infantile Batten disease or late-infantile neuronal ceroid lipofuscinosis (LINCL) is an autosomal recessive lysosomal storage disorder caused by mutations in the Cln2 gene leading to deficiency of lysosomal enzyme tripeptidyl peptidase 1 (TPP1). 30928643 2019
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 GeneticVariation disease BEFREE We update on the spectrum of TPP1 variants associated with CLN2 disease, comprising 131 unique variants from 389 individuals (717 alleles) collected from the literature review, public databases, and laboratory communications. 31283065 2019
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 GeneticVariation disease BEFREE Further analysis of all reported TPP1 mutations revealed that the LINCL group had a significantly higher frequency of truncating and invariant splice-site mutations than the JNCL group. 31059981 2019
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 GeneticVariation disease BEFREE Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare, progressive, fatal neurodegenerative pediatric disorder resulting from deficiencies of the lysosomal enzyme tripeptidyl peptidase 1 that are caused by mutations in TPP1. 31814335 2019
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 GeneticVariation disease BEFREE Furthermore, the assay could be easily combined with a TPP1 enzyme assay (for CLN2 disease) and can be potentially multiplexed with a large panel of additional lysosomal enzyme assays by MS/MS for newborn screening and postscreening analysis. 30204428 2018
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 AlteredExpression disease BEFREE Inducible transgenic expression of tripeptidyl peptidase 1 in a mouse model of late-infantile neuronal ceroid lipofuscinosis. 29408933 2018
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 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 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 These studies indicate that optimal treatment outcomes for CLN2 disease may require delivery of TPP1 systemically as well as directly to the central nervous system. 28079862 2017
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 GeneticVariation disease BEFREE CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, and is characterized by language delay, seizures, rapid cognitive and motor decline, blindness, and early death. 28335910 2017
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 GeneticVariation disease BEFREE Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) is a rare neurodegenerative disease caused by mutations in the Cln2 gene that leads to deficiency or loss of function of the tripeptidyl peptidase 1 (TPP1) enzyme. 28199020 2017
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 Biomarker disease BEFREE Chronic treatment of LINCL mice with TPP1 and K16ApoE extended the lifespan from 126 to >294 days, diminished pathology, and slowed locomotor dysfunction. 28456380 2017
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 Biomarker disease BEFREE To identify candidate biomarkers, we analyzed autopsy brain and matching CSF samples from controls and three genetically distinct NCLs due to deficiencies in palmitoyl protein thioesterase 1 (CLN1 disease), tripeptidyl peptidase 1 (CLN2 disease), and CLN3 protein (CLN3 disease). 28792770 2017
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 Biomarker disease BEFREE CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis). 27491216 2016
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 GeneticVariation disease BEFREE Our findings document that late infantile neuronal ceroid lipofuscinosis (CLN2), which is caused by TPP1 gene mutations, should be considered in the differential diagnosis of autosomal recessive dystonia-parkinsonism syndromes. 26143525 2015
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
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 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 Spectrum of ocular manifestations in CLN2-associated batten (Jansky-Bielschowsky) disease correlate with advancing age and deteriorating neurological function. 24015292 2013