Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 GeneticVariation disease BEFREE Additionally, compound heterozygous pathogenic variants of PPT1 gene were detected in a girl, who initially displayed typical RTT features, but progressed into neuronal ceroid lipofuscinoses (NCL) afterwards. 31512412 2019
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 GeneticVariation disease BEFREE Neuronal ceroid lipofuscinosis (NCL) type 1 (CLN1) is a neurodegenerative storage disorder caused by mutations in the gene encoding the lysosomal enzyme palmitoyl-protein thioesterase 1 (PPT1). 31578378 2019
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 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: 5538
Gene Symbol: PPT1
PPT1
0.400 GeneticVariation disease BEFREE Palmitoyl-protein thioesterase 1 (PPT1) is a depalmitoylation enzyme that is mutated in cases of neuronal ceroid lipofuscinosis (NCL). 30918483 2019
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 GeneticVariation disease BEFREE In neutral conditions, pH 6.0, the PPT1 enzyme activities in NCL 1 patients showed rather higher residual activities and intermediate activities in heterozygotes in NCL 1, which was probably caused by mutated proteins in three cases with NCL 1 patients. 29599076 2018
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 Biomarker disease BEFREE Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses. 29631617 2018
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 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: 5538
Gene Symbol: PPT1
PPT1
0.400 GeneticVariation disease BEFREE CLN1 disease (OMIM #256730) is an early childhood ceroid-lipofuscinosis associated with mutated <i>CLN1</i>, whose product Palmitoyl-Protein Thioesterase 1 (PPT1) is a lysosomal enzyme involved in the removal of palmitate residues from S-acylated proteins. 28878621 2017
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 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: 5538
Gene Symbol: PPT1
PPT1
0.400 Biomarker disease BEFREE Infantile-onset NCL (CLN1 disease) is caused by severe deficiency in a soluble lysosomal enzyme, palmitoyl-protein thioesterase-1 (PPT1) and no therapy beyond supportive care is available. 25982063 2016
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 GeneticVariation disease BEFREE Neuronal ceroid lipofuscinoses (NCL) are a group of inherited neurodegenerative disorders with lysosomal pathology (CLN1-14). 26659577 2016
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 GeneticVariation disease BEFREE Mutations in the depalmitoylating enzyme gene, PPT1, cause the infantile form of Neuronal Ceroid Lipofuscinosis (NCL), an early onset neurodegenerative disease. 26731412 2016
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 GeneticVariation disease BEFREE Fourteen distinct NCL subtypes (CLN1-CLN14) are known, and they are caused by mutations in different genes. 26443629 2016
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 Biomarker disease MGD Nonsense mutations in CLN1 account for 52.3% of all disease causing alleles in infantile NCL, the most common of which worldwide is the p.R151X mutation. 25205113 2015
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 GeneticVariation disease BEFREE Nonsense mutations in CLN1 account for 52.3% of all disease causing alleles in infantile NCL, the most common of which worldwide is the p.R151X mutation. 25205113 2015
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 CausalMutation disease CLINVAR Mice homozygous for c.451C>T mutation in Cln1 gene recapitulate INCL phenotype. 25574475 2014
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 GeneticVariation disease BEFREE The NCLs are clinically and genetically heterogeneous and more than 14 genetically distinct NCL subtypes have been described to date (CLN1-CLN14) (Haltia and Goebel, 2012 [1]). 23274885 2013
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 Biomarker disease BEFREE This neuroimaging finding in PPT1-related neuronal ceroid lipofuscinosis was not previously reported. 22520356 2012
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 GeneticVariation disease BEFREE In total six PATs (HIP14, HIP14L, ZDHHC8, ZDHHC9, ZDHHC12, and ZDHHC15) and one thioesterase (PPT1) have been implicated in Huntington disease (HD), Alzheimer disease, schizophrenia, mental retardation, and infantile and adult onset forms of neuronal ceroid lipofuscinosis. 22155432 2012
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 Biomarker disease BEFREE Although functions are defined for some of the soluble proteins that are defective in NCL (cathepsin D, PPT1, and TPP1), the primary function of the other proteins defective in NCLs (CLN3, CLN5, CLN6, CLN7, and CLN8) remain poorly defined. 20680390 2011
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 Biomarker disease MGD The role of attenuated astrocyte activation in infantile neuronal ceroid lipofuscinosis. 22031903 2011
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 GeneticVariation disease BEFREE To date, 10 NCL entities (CLN1-CLN10) are known and characterized by accumulation of autofluorescent storage material, age of onset and clinical symptoms. 19807737 2010
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 GeneticVariation disease BEFREE Cases of ceroid lipofuscinosis with cytoplasmic storage of granular osmiophilic deposits are associated with reduced activity of palmitoyl-protein thioesterase-1 (PPT-1) and mutations in CLN1, and occur from infancy to adulthood. 19302939 2009
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 GeneticVariation disease BEFREE The late-infantile-onset forms of neuronal ceroid lipofuscinosis (LINCL) are the most genetically heterogeneous group among the autosomal recessive neuronal ceroid lipofuscinoses (NCLs), with causative mutations found in CLN1, CLN2, CLN5, CLN6, CLN7 (MFSD8), and CLN8 genes. 19431184 2009
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 CausalMutation disease CLINVAR Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)--distinct characteristics in neurons. 17565660 2007