Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 Biomarker disease BEFREE A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis. 16621647 2006
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 GeneticVariation disease BEFREE Conversely, a specimen previously classified as juvenile NCL lacks pepinase activity and is associated with mutations in CLN2. 10428067 1999
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 GeneticVariation disease BEFREE Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease. 31283065 2019
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 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
0.700 GeneticVariation disease BEFREE Thus, CLN2 represents a fourth distinct genetic locus involved in the pathogenesis of NCL. 7668361 1995
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 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
0.700 Biomarker disease BEFREE Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2). 12125808 2002
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 GeneticVariation disease BEFREE We determined that the mutations 223A --> G and 451C --> T in CLN1, T523-1G --> C, and 636 C --> T in CLN2, and deletion of a 1.02-kb genomic fragment in CLN3 are the five common mutations for NCL. 11142754 2000
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 Biomarker disease BEFREE Tripeptidyl-peptidase I in neuronal ceroid lipofuscinoses and other lysosomal storage disorders. 11589013 2001
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 Biomarker disease BEFREE Crystal structure and autoactivation pathway of the precursor form of human tripeptidyl-peptidase 1, the enzyme deficient in late infantile ceroid lipofuscinosis. 19038967 2009
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 GeneticVariation disease BEFREE Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs. 26143525 2015
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 AlteredExpression disease BEFREE Interestingly, TPP1 activity in serum only consisted of a neutral form, no acidic form, and was not deficient in any NCL 2 patient. 29599076 2018
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 Biomarker disease BEFREE The most heterogeneous subtype of neuronal ceroid lipofuscinosis comprises the late infantile variant, which, in addition to the classic CLN2, was reported in children with CLN5, CLN6, CLN7/MFSD8, and CLN8 genes. 22964447 2012
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 Biomarker disease BEFREE Mutations of the CLN2 gene encoding a soluble lysosomal enzyme, tripeptidyl peptidase 1 (TPP1), cause late infantile NCL/CLN2 disease. 28464005 2017
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 GeneticVariation disease BEFREE Mouse gene knockout models for the CLN2 and CLN3 forms of ceroid lipofuscinosis. 11588979 2001
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 GeneticVariation disease BEFREE Here we report successful reprograming of patient fibroblasts into induced pluripotent stem cells (iPSCs) for the two most common NCL subtypes: classic late-infantile NCL, caused by TPP1(CLN2) mutation, and juvenile NCL, caused by CLN3 mutation. 24271013 2014
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 Biomarker disease BEFREE Extraneuronal pathology in a canine model of CLN2 neuronal ceroid lipofuscinosis after intracerebroventricular gene therapy that delays neurological disease progression. 28079862 2017
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 GeneticVariation disease BEFREE The results of linkage analyses in Finnish variant CLN2 families using the markers linked to CLN1 revealed an exclusion; i.e., this form of CLN is caused by a locus different from that of CLN1. 2071142 1991
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 Biomarker disease BEFREE Four sub-types of childhood NCL were identified: infantile NCL (INCL) with granular osmiophilic inclusions (GROD) and PPT1 deficiency (1/26), classical LINCL with curvilinear (CV) inclusions and tripeptidyl peptidase (TPP1) deficiency (3/26), variant late infantile NCL (LINCL) with fingerprint/curvilinear (FP/CV) inclusions and normal TPP1 enzyme activity (11/26) and juvenile NCL (JNCL) with a mix of FP/CV (11/26). 12796825 2003
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 GeneticVariation disease BEFREE The CLN2 and CLN6 loci have also been excluded in a family with protracted juvenile NCL. 10191126 1999
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 Biomarker disease BEFREE Among the now eight genetic types of neuronal ceroid-lipofuscinoses (NCL), CLN1 to CLN8, CLN2 is considered classic late-infantile NCL. 11699562 2001
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 GeneticVariation disease BEFREE Late-infantile NCL is caused by mutations in the lysosomal protease tripeptidyl peptidase 1 (TPP1). 25540127 2015
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 Biomarker disease BEFREE We have conducted proteomic analyses of brain and cerebrospinal fluid (CSF) from mouse models of the most frequently diagnosed NCL diseases: CLN1 (infantile NCL), CLN2 (classical late infantile NCL) and CLN3 (juvenile NCL). 31501224 2019
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 GeneticVariation disease BEFREE The two most prevalent forms of neuronal ceroid lipofuscinosis (NCL) are the juvenile form (Batten disease, CLN3) and late infantile form (Jansky-Bielschowsky disease, CLN2). 23263384 2013
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 Biomarker disease BEFREE Gemfibrozil has shown efficacy in an animal model of NCL known as CLN2 (late infantile classic juvenile) and has been shown to be safe for lowering lipids in children. 28623936 2017