Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.300 Biomarker disease BEFREE Using highly informative microsatellite DNA markers in eight multiplex families, we were able to exclude Stargardt's disease from the vicinity of the CLN1 and CLN3 loci. 8014971 1994
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.300 GeneticVariation disease BEFREE Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. 9425237 1998
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.300 Biomarker disease MGD PPT1 deficiency in humans causes a neurodegenerative disorder, infantile neuronal ceroid lipofuscinosis (also known as infantile Batten disease). 11717424 2001
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.300 GeneticVariation disease BEFREE A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis. 12382155 2002
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.300 GeneticVariation disease BEFREE Infantile and juvenile NCL are inherited in an autosomal recessive manner due to mutations in the CLN1 and CLN3 genes, respectively. 12633880 2003
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.300 Biomarker disease BEFREE These results indicate that the function of PPT1 has been widely conserved throughout evolution and that S. pombe may serve as a genetically tractable model for the study of human infantile Batten disease. 15075260 2004
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.300 Biomarker disease MGD Mice with Ppt1Deltaex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons. 15649713 2005
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.300 GeneticVariation disease BEFREE Initial work has revealed disturbed metabolic pathways in several NCL disorders and most analyses have utilized the infantile (INCL/CLN1) and juvenile (JNCL/CLN3) disease modeling and utilized mainly human and mouse samples. 17045465 2006
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.300 Biomarker disease BEFREE Palmitoyl:protein thioesterase (PPT1) inhibitors can act as pharmacological chaperones in infantile Batten disease. 20346914 2010
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.300 GeneticVariation disease BEFREE The Batten disease Palmitoyl Protein Thioesterase 1 gene regulates neural specification and axon connectivity during Drosophila embryonic development. 21203506 2010
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.300 Biomarker disease MGD The role of attenuated astrocyte activation in infantile neuronal ceroid lipofuscinosis. 22031903 2011
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.300 Biomarker disease MGD The novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy. 25205113 2015
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.300 Biomarker disease BEFREE Based on these findings, and because side effects were not detected, we suggest that clinically approved immune modulators such as fingolimod and teriflunomide may be suitable to attenuate progression of CLN1 and CLN3 disease and, possibly, other orphan diseases with pathogenically relevant neuroinflammation. 28506594 2017
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.300 GeneticVariation disease BEFREE Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients. 30541466 2018
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.300 AlteredExpression disease BEFREE Cln3-mutations underlying juvenile neuronal ceroid lipofuscinosis cause significantly reduced levels of Palmitoyl-protein thioesterases-1 (Ppt1)-protein and Ppt1-enzyme activity in the lysosome. 31025705 2019