3.1.2.22 Blindness http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8816748&form=6&db=m Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase. causal interaction,ongoing research,unassigned 2,2,0 3.1.2.22 Blindness http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18021406&form=6&db=m Gene expression profiling in a mouse model of infantile neuronal ceroid lipofuscinosis reveals upregulation of immediate early genes and mediators of the inflammatory response. causal interaction,unassigned 4,0 3.1.2.22 Brain Death http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8816748&form=6&db=m Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase. causal interaction,ongoing research,unassigned 2,2,0 3.1.2.22 Breast Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15205341&form=6&db=m Molecular causes of the aberrant choline phospholipid metabolism in breast cancer. causal interaction,diagnostic usage,ongoing research,unassigned 3,3,2,0 3.1.2.22 Intellectual Disability http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=12855696&form=6&db=m The crystal structure of palmitoyl protein thioesterase-2 (PPT2) reveals the basis for divergent substrate specificities of the two lysosomal thioesterases, PPT1 and PPT2. causal interaction,unassigned 4,0 3.1.2.22 Lysosomal Storage Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9648881&form=6&db=m Enzymatic and molecular biological analysis of palmitoyl protein thioesterase deficiency in infantile neuronal ceroid lipofuscinosis. causal interaction,diagnostic usage,unassigned 3,3,0 3.1.2.22 Lysosomal Storage Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23581634&form=6&db=m Central nervous system stem cell transplantation for children with neuronal ceroid lipofuscinosis. causal interaction,unassigned 3,0 3.1.2.22 Lysosomal Storage Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24705017&form=6&db=m Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease. unassigned - 3.1.2.22 Lysosomal Storage Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24997880&form=6&db=m Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study. causal interaction,unassigned 4,0 3.1.2.22 Lysosomal Storage Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25233404&form=6&db=m Astrocytosis in infantile neuronal ceroid lipofuscinosis: friend or foe? causal interaction,unassigned 4,0 3.1.2.22 Lysosomal Storage Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25253854&form=6&db=m An anti-neuroinflammatory that targets dysregulated glia enhances the efficacy of CNS-directed gene therapy in murine infantile neuronal ceroid lipofuscinosis. causal interaction,unassigned 3,0 3.1.2.22 Lysosomal Storage Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26238334&form=6&db=m Comprehensive functional characterization of murine infantile Batten disease including Parkinson-like behavior and dopaminergic markers. causal interaction,unassigned 4,0 3.1.2.22 Lysosomal Storage Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26734660&form=6&db=m Suppression of agrin-22 production and synaptic dysfunction in Cln1 (-/-) mice. causal interaction,unassigned 3,0 3.1.2.22 Lysosomal Storage Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32938982&form=6&db=m Comparative proteomic profiling reveals mechanisms for early spinal cord vulnerability in CLN1 disease. causal interaction,unassigned 4,0 3.1.2.22 Melanoma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32780726&form=6&db=m PPT1 inhibition enhances the antitumor activity of anti-PD-1 antibody in melanoma. causal interaction,therapeutic application,unassigned 1,3,0 3.1.2.22 Mucolipidoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9247083&form=6&db=m Palmitoyl-protein thioesterase deficiency in fibroblasts of individuals with infantile neuronal ceroid lipofuscinosis and I-cell disease. causal interaction,ongoing research,unassigned 4,1,0 3.1.2.22 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19345705&form=6&db=m Palmitoyl protein thioesterase 1 modulates tumor necrosis factor alpha-induced apoptosis. therapeutic application,unassigned 1,0 3.1.2.22 Nervous System Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9664077&form=6&db=m Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. causal interaction,unassigned 4,0 3.1.2.22 Neuroblastoma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10737604&form=6&db=m Palmitoyl protein thioesterase 1 protects against apoptosis mediated by Ras-Akt-caspase pathway in neuroblastoma cells. therapeutic application,unassigned 1,0 3.1.2.22 Neuroblastoma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11020216&form=6&db=m Antisense palmitoyl protein thioesterase 1 (PPT1) treatment inhibits PPT1 activity and increases cell death in LA-N-5 neuroblastoma cells. causal interaction,ongoing research,unassigned 2,4,0 3.1.2.22 Neuroblastoma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25865307&form=6&db=m Proteomic analysis of the palmitoyl protein thioesterase 1 interactome in SH-SY5Y human neuroblastoma cells. diagnostic usage,ongoing research,unassigned 3,3,0 3.1.2.22 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8702598&form=6&db=m Rat brain contains high levels of mannose-6-phosphorylated glycoproteins including lysosomal enzymes and palmitoyl-protein thioesterase, an enzyme implicated in infantile neuronal lipofuscinosis. causal interaction,unassigned 4,0 3.1.2.22 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8816748&form=6&db=m Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase. causal interaction,ongoing research,unassigned 2,2,0 3.1.2.22 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9247083&form=6&db=m Palmitoyl-protein thioesterase deficiency in fibroblasts of individuals with infantile neuronal ceroid lipofuscinosis and I-cell disease. causal interaction,ongoing research,unassigned 4,1,0 3.1.2.22 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9685319&form=6&db=m Mouse palmitoyl protein thioesterase: gene structure and expression of cDNA. causal interaction,unassigned 2,0 3.1.2.22 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10416973&form=6&db=m First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis. causal interaction,unassigned 4,0 3.1.2.22 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10720439&form=6&db=m Expression of palmitoyl protein thioesterase in neurons. causal interaction,unassigned 4,0 3.1.2.22 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10781062&form=6&db=m The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis. causal interaction,unassigned 3,0 3.1.2.22 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11020216&form=6&db=m Antisense palmitoyl protein thioesterase 1 (PPT1) treatment inhibits PPT1 activity and increases cell death in LA-N-5 neuroblastoma cells. causal interaction,ongoing research,unassigned 2,4,0 3.1.2.22 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11136716&form=6&db=m Palmitoyl protein thioesterase (PPT) localizes into synaptosomes and synaptic vesicles in neurons: implications for infantile neuronal ceroid lipofuscinosis (INCL). causal interaction,therapeutic application,unassigned 3,1,0 3.1.2.22 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11332777&form=6&db=m Positional candidate gene cloning of CLN1. causal interaction,unassigned 2,0 3.1.2.22 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11440996&form=6&db=m Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis. causal interaction,unassigned 4,0 3.1.2.22 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11589008&form=6&db=m Role of palmitoyl-protein thioesterase in cell death: implications for infantile neuronal ceroid lipofuscinosis. causal interaction,ongoing research,therapeutic application,unassigned 2,2,1,0 3.1.2.22 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15979943&form=6&db=m AAV2-mediated ocular gene therapy for infantile neuronal ceroid lipofuscinosis. causal interaction,unassigned 4,0 3.1.2.22 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16542649&form=6&db=m Palmitoyl protein thioesterase 1 (PPT1) deficiency causes endocytic defects connected to abnormal saposin processing. causal interaction,unassigned 2,0 3.1.2.22 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16601878&form=6&db=m Inefficient cleavage of palmitoyl-protein thioesterase (PPT) substrates by aminothiols: Implications for treatment of infantile neuronal ceroid lipofuscinosis. causal interaction,therapeutic application,unassigned 2,4,0 3.1.2.22 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18245779&form=6&db=m Deficiency of the INCL protein Ppt1 results in changes in ectopic F1-ATP synthase and altered cholesterol metabolism. causal interaction,unassigned 4,0 3.1.2.22 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19733542&form=6&db=m Neuroprotection of host cells by human central nervous system stem cells in a mouse model of infantile neuronal ceroid lipofuscinosis. causal interaction,unassigned 4,0 3.1.2.22 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20206262&form=6&db=m Identifying cellular pathways modulated by Drosophila palmitoyl-protein thioesterase 1 function. causal interaction,unassigned 2,0 3.1.2.22 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22310926&form=6&db=m Combination small molecule PPT1 mimetic and CNS-directed gene therapy as a treatment for infantile neuronal ceroid lipofuscinosis. causal interaction,unassigned 2,0 3.1.2.22 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22368049&form=6&db=m Synergistic effects of central nervous system-directed gene therapy and bone marrow transplantation in the murine model of infantile neuronal ceroid lipofuscinosis. causal interaction,unassigned 2,0 3.1.2.22 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23139814&form=6&db=m In a model of batten disease, palmitoyl protein thioesterase-1 deficiency is associated with brown adipose tissue and thermoregulation abnormalities. causal interaction,unassigned 4,0 3.1.2.22 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24091420&form=6&db=m Mutations in palmitoyl-protein thioesterase 1 alter exocytosis and endocytosis at synapses in Drosophila larvae. causal interaction,unassigned 2,0 3.1.2.22 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26648046&form=6&db=m Tissue-specific variation in nonsense mutant transcript level and drug-induced read-through efficiency in the Cln1(R151X) mouse model of INCL. unassigned - 3.1.2.22 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=28334871&form=6&db=m Proteomics insights into infantile neuronal ceroid lipofuscinosis (CLN1) point to the involvement of cilia pathology in the disease. causal interaction,unassigned 4,0 3.1.2.22 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30946007&form=6&db=m Developmental NMDA receptor dysregulation in the infantile neuronal ceroid lipofuscinosis mouse model. unassigned - 3.1.2.22 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31555119&form=6&db=m Depalmitoylation by Palmitoyl-Protein Thioesterase 1 in Neuronal Health and Degeneration. causal interaction,unassigned 4,0 3.1.2.22 Neuroinflammatory Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33115477&form=6&db=m Sex- and region-biased depletion of microglia/macrophages attenuates CLN1 disease in mice. causal interaction,ongoing research,unassigned 1,2,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=7637805&form=6&db=m Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. unassigned - 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8663305&form=6&db=m Lysosomal targeting of palmitoyl-protein thioesterase. causal interaction,unassigned 4,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8702598&form=6&db=m Rat brain contains high levels of mannose-6-phosphorylated glycoproteins including lysosomal enzymes and palmitoyl-protein thioesterase, an enzyme implicated in infantile neuronal lipofuscinosis. causal interaction,unassigned 4,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8786130&form=6&db=m cDNA and genomic cloning of human palmitoyl-protein thioesterase (PPT), the enzyme defective in infantile neuronal ceroid lipofuscinosis. ongoing research,unassigned 2,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8816748&form=6&db=m Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase. causal interaction,ongoing research,unassigned 2,2,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8895569&form=6&db=m Human palmitoyl protein thioesterase: evidence for lysosomal targeting of the enzyme and disturbed cellular routing in infantile neuronal ceroid lipofuscinosis. causal interaction,ongoing research,unassigned 1,1,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9151315&form=6&db=m The mechanism and functional roles of protein palmitoylation in the nervous system. causal interaction,unassigned 4,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9151316&form=6&db=m Palmitoyl-protein thioesterase and the molecular pathogenesis of infantile neuronal ceroid lipofuscinosis. causal interaction,unassigned 2,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9247083&form=6&db=m Palmitoyl-protein thioesterase deficiency in fibroblasts of individuals with infantile neuronal ceroid lipofuscinosis and I-cell disease. causal interaction,ongoing research,unassigned 4,1,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9425237&form=6&db=m Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. unassigned - 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9648881&form=6&db=m Enzymatic and molecular biological analysis of palmitoyl protein thioesterase deficiency in infantile neuronal ceroid lipofuscinosis. causal interaction,diagnostic usage,unassigned 3,3,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9664077&form=6&db=m Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. causal interaction,unassigned 4,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9685319&form=6&db=m Mouse palmitoyl protein thioesterase: gene structure and expression of cDNA. causal interaction,unassigned 2,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10191107&form=6&db=m Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency. causal interaction,unassigned 4,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10191108&form=6&db=m A rapid fluorogenic palmitoyl-protein thioesterase assay: pre- and postnatal diagnosis of INCL. causal interaction,unassigned 4,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10191116&form=6&db=m Tissue expression and subcellular localization of CLN3, the Batten disease protein. causal interaction,therapeutic application,unassigned 4,1,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10191117&form=6&db=m The expression of palmitoyl-protein thioesterase is developmentally regulated in neural tissues but not in nonneural tissues. causal interaction,unassigned 3,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10231585&form=6&db=m Palmitoyl-protein thioesterase gene expression in the developing mouse brain and retina: implications for early loss of vision in infantile neuronal ceroid lipofuscinosis. causal interaction,unassigned 4,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10416973&form=6&db=m First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis. causal interaction,unassigned 4,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10649502&form=6&db=m Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis. causal interaction,unassigned 3,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10679943&form=6&db=m Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1). causal interaction,unassigned 2,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10720439&form=6&db=m Expression of palmitoyl protein thioesterase in neurons. causal interaction,unassigned 4,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10781062&form=6&db=m The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis. causal interaction,unassigned 3,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10874636&form=6&db=m A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants. unassigned - 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11020216&form=6&db=m Antisense palmitoyl protein thioesterase 1 (PPT1) treatment inhibits PPT1 activity and increases cell death in LA-N-5 neuroblastoma cells. causal interaction,ongoing research,unassigned 2,4,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11136716&form=6&db=m Palmitoyl protein thioesterase (PPT) localizes into synaptosomes and synaptic vesicles in neurons: implications for infantile neuronal ceroid lipofuscinosis (INCL). causal interaction,therapeutic application,unassigned 3,1,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11332777&form=6&db=m Positional candidate gene cloning of CLN1. causal interaction,unassigned 2,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11440996&form=6&db=m Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis. causal interaction,unassigned 4,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11506414&form=6&db=m Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease. causal interaction,diagnostic usage,therapeutic application,unassigned 3,4,3,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11520175&form=6&db=m Neuronal trafficking of palmitoyl protein thioesterase provides an excellent model to study the effects of different mutations which cause infantile neuronal ceroid lipofuscinocis. causal interaction,unassigned 4,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11589008&form=6&db=m Role of palmitoyl-protein thioesterase in cell death: implications for infantile neuronal ceroid lipofuscinosis. causal interaction,ongoing research,therapeutic application,unassigned 2,2,1,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=12069847&form=6&db=m The effects of lysosomotropic agents on normal and INCL cells provide further evidence for the lysosomal nature of palmitoyl-protein thioesterase function. causal interaction,unassigned 4,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=12483688&form=6&db=m Palmitoyl protein thioesterase 1 is targeted to the axons in neurons. causal interaction,unassigned 2,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=12855696&form=6&db=m The crystal structure of palmitoyl protein thioesterase-2 (PPT2) reveals the basis for divergent substrate specificities of the two lysosomal thioesterases, PPT1 and PPT2. causal interaction,unassigned 4,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=14528005&form=6&db=m Disruption of PPT2 in mice causes an unusual lysosomal storage disorder with neurovisceral features. causal interaction,unassigned 1,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=14655761&form=6&db=m Autosomal dominant adult neuronal ceroid lipofuscinosis: a novel form of NCL with granular osmiophilic deposits without palmitoyl protein thioesterase 1 deficiency. unassigned - 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15075260&form=6&db=m pdf1, a palmitoyl protein thioesterase 1 Ortholog in Schizosaccharomyces pombe: a yeast model of infantile Batten disease. causal interaction,ongoing research,unassigned 4,1,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15193291&form=6&db=m Regional and cellular neuropathology in the palmitoyl protein thioesterase-1 null mutant mouse model of infantile neuronal ceroid lipofuscinosis. ongoing research,unassigned 1,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15464427&form=6&db=m Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease). causal interaction,unassigned 4,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15649713&form=6&db=m Mice with Ppt1Deltaex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons. unassigned - 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15979943&form=6&db=m AAV2-mediated ocular gene therapy for infantile neuronal ceroid lipofuscinosis. causal interaction,unassigned 4,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16364693&form=6&db=m CNS-directed AAV2-mediated gene therapy ameliorates functional deficits in a murine model of infantile neuronal ceroid lipofuscinosis. causal interaction,unassigned 4,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16542649&form=6&db=m Palmitoyl protein thioesterase 1 (PPT1) deficiency causes endocytic defects connected to abnormal saposin processing. causal interaction,unassigned 2,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16571600&form=6&db=m Palmitoyl-protein thioesterase-1 deficiency leads to the activation of caspase-9 and contributes to rapid neurodegeneration in INCL. causal interaction,unassigned 3,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16601878&form=6&db=m Inefficient cleavage of palmitoyl-protein thioesterase (PPT) substrates by aminothiols: Implications for treatment of infantile neuronal ceroid lipofuscinosis. causal interaction,therapeutic application,unassigned 2,4,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16644870&form=6&db=m Endoplasmic reticulum stress-induced caspase-4 activation mediates apoptosis and neurodegeneration in INCL. causal interaction,unassigned 4,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17044973&form=6&db=m [Two novel mutations in palmitoyl-protein thioesterase gene in 2 Chinese babies with infantile neuronal ceroid lipofuscinosis] therapeutic application,unassigned 1,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17046272&form=6&db=m Successive neuron loss in the thalamus and cortex in a mouse model of infantile neuronal ceroid lipofuscinosis. causal interaction,unassigned 4,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17261688&form=6&db=m Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1. causal interaction,unassigned 4,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17341491&form=6&db=m Production of lysophosphatidylcholine by cPLA2 in the brain of mice lacking PPT1 is a signal for phagocyte infiltration. causal interaction,unassigned 4,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17388982&form=6&db=m Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency. causal interaction,unassigned 4,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17565660&form=6&db=m Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)--distinct characteristics in neurons. causal interaction,unassigned 4,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17980993&form=6&db=m Infantile neuronal ceroid lipofuscinosis: The first reported case in Japan diagnosed by palmitoyl-protein thioesterase enzyme activity deficiency. causal interaction,unassigned 4,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18021406&form=6&db=m Gene expression profiling in a mouse model of infantile neuronal ceroid lipofuscinosis reveals upregulation of immediate early genes and mediators of the inflammatory response. causal interaction,unassigned 4,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18245779&form=6&db=m Deficiency of the INCL protein Ppt1 results in changes in ectopic F1-ATP synthase and altered cholesterol metabolism. causal interaction,unassigned 4,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18704195&form=6&db=m Palmitoyl protein thioesterase-1 deficiency impairs synaptic vesicle recycling at nerve terminals, contributing to neuropathology in humans and mice. causal interaction,unassigned 3,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18948101&form=6&db=m RAGE signaling contributes to neuroinflammation in infantile neuronal ceroid lipofuscinosis. causal interaction,unassigned 4,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19733542&form=6&db=m Neuroprotection of host cells by human central nervous system stem cells in a mouse model of infantile neuronal ceroid lipofuscinosis. causal interaction,unassigned 4,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19748052&form=6&db=m Late infantile neuronal ceroid lipofuscinosis: a new mutation in Arabs. causal interaction,diagnostic usage,unassigned 1,1,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19793631&form=6&db=m Structural basis of neuronal ceroid lipofuscinosis 1. ongoing research,unassigned 3,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20036592&form=6&db=m Human recombinant palmitoyl-protein thioesterase-1 (PPT1) for preclinical evaluation of enzyme replacement therapy for infantile neuronal ceroid lipofuscinosis. ongoing research,therapeutic application,unassigned 2,4,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20206262&form=6&db=m Identifying cellular pathways modulated by Drosophila palmitoyl-protein thioesterase 1 function. causal interaction,unassigned 2,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20561933&form=6&db=m Omega-3 and omega-6 fatty acids suppress ER- and oxidative stress in cultured neurons and neuronal progenitor cells from mice lacking PPT1. causal interaction,unassigned 4,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21203506&form=6&db=m The Batten disease Palmitoyl Protein Thioesterase 1 gene regulates neural specification and axon connectivity during Drosophila embryonic development. unassigned - 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22310926&form=6&db=m Combination small molecule PPT1 mimetic and CNS-directed gene therapy as a treatment for infantile neuronal ceroid lipofuscinosis. causal interaction,unassigned 2,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22331300&form=6&db=m The blood-brain barrier is disrupted in a mouse model of infantile neuronal ceroid lipofuscinosis: amelioration by resveratrol. causal interaction,unassigned 4,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22368049&form=6&db=m Synergistic effects of central nervous system-directed gene therapy and bone marrow transplantation in the murine model of infantile neuronal ceroid lipofuscinosis. causal interaction,unassigned 2,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22520356&form=6&db=m Novel neuroimaging finding in palmitoyl protein thioesterase-1-related neuronal ceroid lipofuscinosis. causal interaction,unassigned 3,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22704978&form=6&db=m Intravenous high-dose enzyme replacement therapy with recombinant palmitoyl-protein thioesterase reduces visceral lysosomal storage and modestly prolongs survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis. causal interaction,ongoing research,therapeutic application,unassigned 4,1,3,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23139814&form=6&db=m In a model of batten disease, palmitoyl protein thioesterase-1 deficiency is associated with brown adipose tissue and thermoregulation abnormalities. causal interaction,unassigned 4,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23485853&form=6&db=m Immune cells perturb axons and impair neuronal survival in a mouse model of infantile neuronal ceroid lipofuscinosis. ongoing research,unassigned 4,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23581634&form=6&db=m Central nervous system stem cell transplantation for children with neuronal ceroid lipofuscinosis. causal interaction,unassigned 3,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23747979&form=6&db=m Pathogenesis and therapies for infantile neuronal ceroid lipofuscinosis (infantile CLN1 disease). causal interaction,unassigned 3,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23772246&form=6&db=m Novel CLN1 mutation with atypical juvenile neuronal ceroid lipofuscinosis. causal interaction,diagnostic usage,unassigned 2,1,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23857568&form=6&db=m A Novel c.776_777insA Mutation in CLN1 Leads to Infantile Neuronal Ceroid Lipofuscinosis. causal interaction,unassigned 3,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24014510&form=6&db=m Considerations for the treatment of infantile neuronal ceroid lipofuscinosis (infantile batten disease). causal interaction,unassigned 4,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24091420&form=6&db=m Mutations in palmitoyl-protein thioesterase 1 alter exocytosis and endocytosis at synapses in Drosophila larvae. causal interaction,unassigned 2,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24997880&form=6&db=m Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study. causal interaction,unassigned 4,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25019629&form=6&db=m Tandem mass spectrometry assays of palmitoyl protein thioesterase 1 and tripeptidyl peptidase activity in dried blood spots for the detection of neuronal ceroid lipofuscinoses in newborns. diagnostic usage,unassigned 3,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25253854&form=6&db=m An anti-neuroinflammatory that targets dysregulated glia enhances the efficacy of CNS-directed gene therapy in murine infantile neuronal ceroid lipofuscinosis. causal interaction,unassigned 3,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26120000&form=6&db=m Selective N-Hydroxyhydantoin Carbamate Inhibitors of Mammalian Serine Hydrolases. unassigned - 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26238334&form=6&db=m Comprehensive functional characterization of murine infantile Batten disease including Parkinson-like behavior and dopaminergic markers. causal interaction,unassigned 4,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26339674&form=6&db=m Evaluation of disease progression in INCL by MR spectroscopy. causal interaction,unassigned 4,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26648046&form=6&db=m Tissue-specific variation in nonsense mutant transcript level and drug-induced read-through efficiency in the Cln1(R151X) mouse model of INCL. unassigned - 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26734660&form=6&db=m Suppression of agrin-22 production and synaptic dysfunction in Cln1 (-/-) mice. causal interaction,unassigned 3,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27765741&form=6&db=m MRI Brain Volume Measurements in Infantile Neuronal Ceroid Lipofuscinosis. causal interaction,unassigned 3,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=28334871&form=6&db=m Proteomics insights into infantile neuronal ceroid lipofuscinosis (CLN1) point to the involvement of cilia pathology in the disease. causal interaction,unassigned 4,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=28673981&form=6&db=m Synergistic effects of treating the spinal cord and brain in CLN1 disease. causal interaction,unassigned 4,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30918483&form=6&db=m The Interactome of Palmitoyl-Protein Thioesterase 1 (PPT1) Affects Neuronal Morphology and Function. causal interaction,therapeutic application,unassigned 1,1,0 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30946007&form=6&db=m Developmental NMDA receptor dysregulation in the infantile neuronal ceroid lipofuscinosis mouse model. unassigned - 3.1.2.22 Neuronal Ceroid-Lipofuscinoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31578378&form=6&db=m Mice deficient in the lysosomal enzyme palmitoyl-protein thioesterase 1 (PPT1) display a complex retinal phenotype. causal interaction,unassigned 4,0 3.1.2.22 Ovarian Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19951750&form=6&db=m Glycoproteomics of paclitaxel resistance in human epithelial ovarian cancer cell lines: towards the identification of putative biomarkers. causal interaction,diagnostic usage,ongoing research,unassigned 3,3,3,0 3.1.2.22 palmitoyl-coa hydrolase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9648881&form=6&db=m Enzymatic and molecular biological analysis of palmitoyl protein thioesterase deficiency in infantile neuronal ceroid lipofuscinosis. causal interaction,diagnostic usage,unassigned 3,3,0 3.1.2.22 palmitoyl-coa hydrolase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10802792&form=6&db=m CSF insulin-like growth factor-1 in infantile neuronal ceroid lipofuscinosis. causal interaction,unassigned 4,0 3.1.2.22 palmitoyl-coa hydrolase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10916928&form=6&db=m [Neuronal ceroid lipofuscinosis. Closing chapter of a long story] causal interaction,therapeutic application,unassigned 4,1,0 3.1.2.22 palmitoyl[protein] hydrolase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9151317&form=6&db=m Low molecular weight storage material in infantile ceroid lipofuscinosis (CLN1). causal interaction,unassigned 4,0 3.1.2.22 palmitoyl[protein] hydrolase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9247083&form=6&db=m Palmitoyl-protein thioesterase deficiency in fibroblasts of individuals with infantile neuronal ceroid lipofuscinosis and I-cell disease. causal interaction,ongoing research,unassigned 4,1,0 3.1.2.22 palmitoyl[protein] hydrolase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9535296&form=6&db=m Palmitoyl-protein thioesterase deficiency in a novel granular variant of LINCL. causal interaction,unassigned 4,0 3.1.2.22 palmitoyl[protein] hydrolase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9648881&form=6&db=m Enzymatic and molecular biological analysis of palmitoyl protein thioesterase deficiency in infantile neuronal ceroid lipofuscinosis. causal interaction,diagnostic usage,unassigned 3,3,0 3.1.2.22 palmitoyl[protein] hydrolase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9664077&form=6&db=m Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. causal interaction,unassigned 4,0 3.1.2.22 palmitoyl[protein] hydrolase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10191107&form=6&db=m Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency. causal interaction,unassigned 4,0 3.1.2.22 palmitoyl[protein] hydrolase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10649502&form=6&db=m Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis. causal interaction,unassigned 3,0 3.1.2.22 palmitoyl[protein] hydrolase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10802792&form=6&db=m CSF insulin-like growth factor-1 in infantile neuronal ceroid lipofuscinosis. causal interaction,unassigned 4,0 3.1.2.22 palmitoyl[protein] hydrolase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10916928&form=6&db=m [Neuronal ceroid lipofuscinosis. Closing chapter of a long story] causal interaction,therapeutic application,unassigned 4,1,0 3.1.2.22 palmitoyl[protein] hydrolase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11506414&form=6&db=m Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease. causal interaction,diagnostic usage,therapeutic application,unassigned 3,4,3,0 3.1.2.22 palmitoyl[protein] hydrolase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=14655761&form=6&db=m Autosomal dominant adult neuronal ceroid lipofuscinosis: a novel form of NCL with granular osmiophilic deposits without palmitoyl protein thioesterase 1 deficiency. unassigned - 3.1.2.22 palmitoyl[protein] hydrolase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16368712&form=6&db=m Palmitoyl-protein thioesterase-1 deficiency mediates the activation of the unfolded protein response and neuronal apoptosis in INCL. causal interaction,therapeutic application,unassigned 4,1,0 3.1.2.22 palmitoyl[protein] hydrolase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16452138&form=6&db=m Palmitoyl-protein thioesterase 1 deficiency in Drosophila melanogaster causes accumulation of abnormal storage material and reduced life span. causal interaction,unassigned 2,0 3.1.2.22 palmitoyl[protein] hydrolase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16571600&form=6&db=m Palmitoyl-protein thioesterase-1 deficiency leads to the activation of caspase-9 and contributes to rapid neurodegeneration in INCL. causal interaction,unassigned 3,0 3.1.2.22 palmitoyl[protein] hydrolase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17388982&form=6&db=m Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency. causal interaction,unassigned 4,0 3.1.2.22 palmitoyl[protein] hydrolase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18704195&form=6&db=m Palmitoyl protein thioesterase-1 deficiency impairs synaptic vesicle recycling at nerve terminals, contributing to neuropathology in humans and mice. causal interaction,unassigned 3,0 3.1.2.22 palmitoyl[protein] hydrolase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23139814&form=6&db=m In a model of batten disease, palmitoyl protein thioesterase-1 deficiency is associated with brown adipose tissue and thermoregulation abnormalities. causal interaction,unassigned 4,0 3.1.2.22 palmitoyl[protein] hydrolase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26339674&form=6&db=m Evaluation of disease progression in INCL by MR spectroscopy. causal interaction,unassigned 4,0 3.1.2.22 palmitoyl[protein] hydrolase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27765741&form=6&db=m MRI Brain Volume Measurements in Infantile Neuronal Ceroid Lipofuscinosis. causal interaction,unassigned 3,0 3.1.2.22 palmitoyl[protein] hydrolase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=34220062&form=6&db=m Neuronal Ceroid Lipofuscinoses in Children. causal interaction,diagnostic usage,unassigned 1,3,0 3.1.2.22 Retinal Degeneration http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11020216&form=6&db=m Antisense palmitoyl protein thioesterase 1 (PPT1) treatment inhibits PPT1 activity and increases cell death in LA-N-5 neuroblastoma cells. causal interaction,ongoing research,unassigned 2,4,0 3.1.2.22 Seizures http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8816748&form=6&db=m Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase. causal interaction,ongoing research,unassigned 2,2,0 3.1.2.22 Status Epilepticus http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=12270687&form=6&db=m Status epilepticus induces changes in the expression and localization of endogenous palmitoyl-protein thioesterase 1. causal interaction,diagnostic usage,ongoing research,unassigned 1,3,3,0