Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.600 Biomarker disease BEFREE To provide tools for studying the mechanisms underlying the disease pathologies and for screening potential therapeutic interventions, work is under way to develop mouse models for the CLN2 and CLN3 disorders. 11588979 2001
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.600 Biomarker disease BEFREE The aim of this study was to compare quantitative T2-values of brain tissue in CLN2 and CLN3 patients with reference values from age-matched normal subjects. 23263384 2013
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.600 GeneticVariation disease BEFREE In the last five years, specific mutations have been defined in Lafora disease (gene for laforin or dual specificity phosphatase in 6q24), Unverricht-Lundborg disease (cystatin B in 21q22.3), Jansky-Bielschowsky ceroid lipofuscinoses (CLN2 gene for tripeptidyl peptidase 1 in 11q15), Finnish variant of late infantile ceroid lipofuscinoses (CLN5 gene in 13q21-32 encodes 407 amino acids with two transmembrane helices of unknown function), juvenile ceroid lipofuscinoses or Batten disease (CLN3 gene in 16p encodes 438 amino acid protein of unknown function), a subtype of Batten disease and infantile ceroid lipofuscinoses of the Haltia-Santavuori type (both are caused by mutations in palmitoyl-protein thiosterase gene at 1p32), dentadorubropallidoluysian atrophy (CAG repeats in a gene in 12p13.31) and the mitochondrial syndrome MERRF (tRNA Lys mutation in mitochondrial DNA). 11579433 2001
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.600 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
0.600 Biomarker disease BEFREE The results showed that ceroid-lipofuscinosis, neuronal 2, late infantile (CLN2; P = 0.044) and ceroid-lipofuscinosis, neuronal 3, juvenile (CLN3, which related to visual failure; P = 0.012) were significantly downregulated in the orbital fat of patients with TED. 18552385 2008
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.600 GeneticVariation disease BEFREE Neuronal ceroid lipofuscinoses type I and type II (NCL1 and NCL2) also known as Batten disease are the commonly observed neurodegenerative lysosomal storage disorder caused by mutations in the PPT1 and TPP1 genes respectively. 30541466 2018
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.600 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
0.600 GeneticVariation disease BEFREE Late infantile neuronal ceroid lipofuscinosis (LINCL), one form of Batten's disease is a progressive neurodegenerative disorder resulting from a CLN2 gene mutation. 24015292 2013
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.600 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
0.600 Biomarker disease BEFREE In 2017, cerliponase alfa (Brineura), a tripeptidyl peptidase enzyme replacement therapy, became the first globally approved treatment for CLN2 Batten disease. 30783219 2019
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.600 Biomarker disease BEFREE These results suggest that the TOR signalling pathway is responsible for the cytopathological outcomes in the <i>Dictyostelium</i> Tpp1 model of Batten disease. 31100984 2019
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.600 Biomarker disease BEFREE Pulse-chase labelling of fibroblasts and lymphoblastoid cell lines with [35S]cysteine revealed the presence of lipid [35S]cysteine material in CLN1 fibroblasts and not in controls, CLN2 or CLN3 patients or other patients with lipidosis. 9151317 1997
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.600 Biomarker disease BEFREE Herein, the use of macrophage-derived EVs for brain delivery of a soluble lysosomal enzyme tripeptidyl peptidase-1, TPP1, to treat a lysosomal storage disorder, Neuronal Ceroid Lipofuscinoses 2 (CLN2) or Batten disease, is investigated. 30997751 2019
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.600 Biomarker disease CTD_human Increased brain lysosomal pepstatin-insensitive proteinase activity in patients with neurodegenerative diseases. 10320038 1999
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.600 Biomarker disease CTD_human Aminoglycoside-mediated suppression of nonsense mutations in late infantile neuronal ceroid lipofuscinosis. 11589009 2001
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.600 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
0.600 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