Disease on EC 3.1.2.22 - palmitoyl[protein] hydrolase
Please use the Disease Search for a specific query.
Please wait a moment until all data is loaded. This message will disappear when all data is loaded.
Blindness
Gene expression profiling in a mouse model of infantile neuronal ceroid lipofuscinosis reveals upregulation of immediate early genes and mediators of the inflammatory response.
Blindness
Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase.
Brain Death
Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase.
Breast Neoplasms
Molecular causes of the aberrant choline phospholipid metabolism in breast cancer.
Intellectual Disability
The crystal structure of palmitoyl protein thioesterase-2 (PPT2) reveals the basis for divergent substrate specificities of the two lysosomal thioesterases, PPT1 and PPT2.
Lysosomal Storage Diseases
An anti-neuroinflammatory that targets dysregulated glia enhances the efficacy of CNS-directed gene therapy in murine infantile neuronal ceroid lipofuscinosis.
Lysosomal Storage Diseases
Astrocytosis in infantile neuronal ceroid lipofuscinosis: friend or foe?
Lysosomal Storage Diseases
Central nervous system stem cell transplantation for children with neuronal ceroid lipofuscinosis.
Lysosomal Storage Diseases
Comparative proteomic profiling reveals mechanisms for early spinal cord vulnerability in CLN1 disease.
Lysosomal Storage Diseases
Comprehensive functional characterization of murine infantile Batten disease including Parkinson-like behavior and dopaminergic markers.
Lysosomal Storage Diseases
Enzymatic and molecular biological analysis of palmitoyl protein thioesterase deficiency in infantile neuronal ceroid lipofuscinosis.
Lysosomal Storage Diseases
Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease.
Lysosomal Storage Diseases
Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study.
Lysosomal Storage Diseases
Suppression of agrin-22 production and synaptic dysfunction in Cln1 (-/-) mice.
Melanoma
PPT1 inhibition enhances the antitumor activity of anti-PD-1 antibody in melanoma.
Mucolipidoses
Palmitoyl-protein thioesterase deficiency in fibroblasts of individuals with infantile neuronal ceroid lipofuscinosis and I-cell disease.
Neoplasms
Palmitoyl protein thioesterase 1 modulates tumor necrosis factor alpha-induced apoptosis.
Nervous System Diseases
Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.
Neuroblastoma
Antisense palmitoyl protein thioesterase 1 (PPT1) treatment inhibits PPT1 activity and increases cell death in LA-N-5 neuroblastoma cells.
Neuroblastoma
Palmitoyl protein thioesterase 1 protects against apoptosis mediated by Ras-Akt-caspase pathway in neuroblastoma cells.
Neuroblastoma
Proteomic analysis of the palmitoyl protein thioesterase 1 interactome in SH-SY5Y human neuroblastoma cells.
Neurodegenerative Diseases
AAV2-mediated ocular gene therapy for infantile neuronal ceroid lipofuscinosis.
Neurodegenerative Diseases
Antisense palmitoyl protein thioesterase 1 (PPT1) treatment inhibits PPT1 activity and increases cell death in LA-N-5 neuroblastoma cells.
Neurodegenerative Diseases
Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis.
Neurodegenerative Diseases
Combination small molecule PPT1 mimetic and CNS-directed gene therapy as a treatment for infantile neuronal ceroid lipofuscinosis.
Neurodegenerative Diseases
Deficiency of the INCL protein Ppt1 results in changes in ectopic F1-ATP synthase and altered cholesterol metabolism.
Neurodegenerative Diseases
Depalmitoylation by Palmitoyl-Protein Thioesterase 1 in Neuronal Health and Degeneration.
Neurodegenerative Diseases
Developmental NMDA receptor dysregulation in the infantile neuronal ceroid lipofuscinosis mouse model.
Neurodegenerative Diseases
First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis.
Neurodegenerative Diseases
Identifying cellular pathways modulated by Drosophila palmitoyl-protein thioesterase 1 function.
Neurodegenerative Diseases
In a model of batten disease, palmitoyl protein thioesterase-1 deficiency is associated with brown adipose tissue and thermoregulation abnormalities.
Neurodegenerative Diseases
Inefficient cleavage of palmitoyl-protein thioesterase (PPT) substrates by aminothiols: Implications for treatment of infantile neuronal ceroid lipofuscinosis.
Neurodegenerative Diseases
Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase.
Neurodegenerative Diseases
Mouse palmitoyl protein thioesterase: gene structure and expression of cDNA.
Neurodegenerative Diseases
Mutations in palmitoyl-protein thioesterase 1 alter exocytosis and endocytosis at synapses in Drosophila larvae.
Neurodegenerative Diseases
Neuroprotection of host cells by human central nervous system stem cells in a mouse model of infantile neuronal ceroid lipofuscinosis.
Neurodegenerative Diseases
Palmitoyl protein thioesterase (PPT) localizes into synaptosomes and synaptic vesicles in neurons: implications for infantile neuronal ceroid lipofuscinosis (INCL).
Neurodegenerative Diseases
Palmitoyl protein thioesterase 1 (PPT1) deficiency causes endocytic defects connected to abnormal saposin processing.
Neurodegenerative Diseases
Palmitoyl-protein thioesterase deficiency in fibroblasts of individuals with infantile neuronal ceroid lipofuscinosis and I-cell disease.
Neurodegenerative Diseases
Proteomics insights into infantile neuronal ceroid lipofuscinosis (CLN1) point to the involvement of cilia pathology in the disease.
Neurodegenerative Diseases
Rat brain contains high levels of mannose-6-phosphorylated glycoproteins including lysosomal enzymes and palmitoyl-protein thioesterase, an enzyme implicated in infantile neuronal lipofuscinosis.
Neurodegenerative Diseases
Role of palmitoyl-protein thioesterase in cell death: implications for infantile neuronal ceroid lipofuscinosis.
Neurodegenerative Diseases
Synergistic effects of central nervous system-directed gene therapy and bone marrow transplantation in the murine model of infantile neuronal ceroid lipofuscinosis.
Neurodegenerative Diseases
The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis.
Neurodegenerative Diseases
Tissue-specific variation in nonsense mutant transcript level and drug-induced read-through efficiency in the Cln1(R151X) mouse model of INCL.
Neuroinflammatory Diseases
Sex- and region-biased depletion of microglia/macrophages attenuates CLN1 disease in mice.
Neuronal Ceroid-Lipofuscinoses
A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants.
Neuronal Ceroid-Lipofuscinoses
A Novel c.776_777insA Mutation in CLN1 Leads to Infantile Neuronal Ceroid Lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
A rapid fluorogenic palmitoyl-protein thioesterase assay: pre- and postnatal diagnosis of INCL.
Neuronal Ceroid-Lipofuscinoses
AAV2-mediated ocular gene therapy for infantile neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1.
Neuronal Ceroid-Lipofuscinoses
Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease.
Neuronal Ceroid-Lipofuscinoses
An anti-neuroinflammatory that targets dysregulated glia enhances the efficacy of CNS-directed gene therapy in murine infantile neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Antisense palmitoyl protein thioesterase 1 (PPT1) treatment inhibits PPT1 activity and increases cell death in LA-N-5 neuroblastoma cells.
Neuronal Ceroid-Lipofuscinoses
Autosomal dominant adult neuronal ceroid lipofuscinosis: a novel form of NCL with granular osmiophilic deposits without palmitoyl protein thioesterase 1 deficiency.
Neuronal Ceroid-Lipofuscinoses
Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
cDNA and genomic cloning of human palmitoyl-protein thioesterase (PPT), the enzyme defective in infantile neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Central nervous system stem cell transplantation for children with neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
CNS-directed AAV2-mediated gene therapy ameliorates functional deficits in a murine model of infantile neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Combination small molecule PPT1 mimetic and CNS-directed gene therapy as a treatment for infantile neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Comprehensive functional characterization of murine infantile Batten disease including Parkinson-like behavior and dopaminergic markers.
Neuronal Ceroid-Lipofuscinoses
Considerations for the treatment of infantile neuronal ceroid lipofuscinosis (infantile batten disease).
Neuronal Ceroid-Lipofuscinoses
Deficiency of the INCL protein Ppt1 results in changes in ectopic F1-ATP synthase and altered cholesterol metabolism.
Neuronal Ceroid-Lipofuscinoses
Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1).
Neuronal Ceroid-Lipofuscinoses
Developmental NMDA receptor dysregulation in the infantile neuronal ceroid lipofuscinosis mouse model.
Neuronal Ceroid-Lipofuscinoses
Disruption of PPT2 in mice causes an unusual lysosomal storage disorder with neurovisceral features.
Neuronal Ceroid-Lipofuscinoses
Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease).
Neuronal Ceroid-Lipofuscinoses
Endoplasmic reticulum stress-induced caspase-4 activation mediates apoptosis and neurodegeneration in INCL.
Neuronal Ceroid-Lipofuscinoses
Enzymatic and molecular biological analysis of palmitoyl protein thioesterase deficiency in infantile neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Evaluation of disease progression in INCL by MR spectroscopy.
Neuronal Ceroid-Lipofuscinoses
First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis.
Neuronal Ceroid-Lipofuscinoses
Gene expression profiling in a mouse model of infantile neuronal ceroid lipofuscinosis reveals upregulation of immediate early genes and mediators of the inflammatory response.
Neuronal Ceroid-Lipofuscinoses
Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency.
Neuronal Ceroid-Lipofuscinoses
Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)--distinct characteristics in neurons.
Neuronal Ceroid-Lipofuscinoses
Human palmitoyl protein thioesterase: evidence for lysosomal targeting of the enzyme and disturbed cellular routing in infantile neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Human recombinant palmitoyl-protein thioesterase-1 (PPT1) for preclinical evaluation of enzyme replacement therapy for infantile neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Identifying cellular pathways modulated by Drosophila palmitoyl-protein thioesterase 1 function.
Neuronal Ceroid-Lipofuscinoses
Immune cells perturb axons and impair neuronal survival in a mouse model of infantile neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
In a model of batten disease, palmitoyl protein thioesterase-1 deficiency is associated with brown adipose tissue and thermoregulation abnormalities.
Neuronal Ceroid-Lipofuscinoses
Inefficient cleavage of palmitoyl-protein thioesterase (PPT) substrates by aminothiols: Implications for treatment of infantile neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Infantile neuronal ceroid lipofuscinosis: The first reported case in Japan diagnosed by palmitoyl-protein thioesterase enzyme activity deficiency.
Neuronal Ceroid-Lipofuscinoses
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.
Neuronal Ceroid-Lipofuscinoses
Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency.
Neuronal Ceroid-Lipofuscinoses
Late infantile neuronal ceroid lipofuscinosis: a new mutation in Arabs.
Neuronal Ceroid-Lipofuscinoses
Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase.
Neuronal Ceroid-Lipofuscinoses
Mice deficient in the lysosomal enzyme palmitoyl-protein thioesterase 1 (PPT1) display a complex retinal phenotype.
Neuronal Ceroid-Lipofuscinoses
Mice with Ppt1Deltaex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons.
Neuronal Ceroid-Lipofuscinoses
Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.
Neuronal Ceroid-Lipofuscinoses
Mouse palmitoyl protein thioesterase: gene structure and expression of cDNA.
Neuronal Ceroid-Lipofuscinoses
MRI Brain Volume Measurements in Infantile Neuronal Ceroid Lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Mutations in palmitoyl-protein thioesterase 1 alter exocytosis and endocytosis at synapses in Drosophila larvae.
Neuronal Ceroid-Lipofuscinoses
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.
Neuronal Ceroid-Lipofuscinoses
Neuronal trafficking of palmitoyl protein thioesterase provides an excellent model to study the effects of different mutations which cause infantile neuronal ceroid lipofuscinocis.
Neuronal Ceroid-Lipofuscinoses
Neuroprotection of host cells by human central nervous system stem cells in a mouse model of infantile neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Novel CLN1 mutation with atypical juvenile neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Novel neuroimaging finding in palmitoyl protein thioesterase-1-related neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Omega-3 and omega-6 fatty acids suppress ER- and oxidative stress in cultured neurons and neuronal progenitor cells from mice lacking PPT1.
Neuronal Ceroid-Lipofuscinoses
Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study.
Neuronal Ceroid-Lipofuscinoses
Palmitoyl protein thioesterase (PPT) localizes into synaptosomes and synaptic vesicles in neurons: implications for infantile neuronal ceroid lipofuscinosis (INCL).
Neuronal Ceroid-Lipofuscinoses
Palmitoyl protein thioesterase 1 (PPT1) deficiency causes endocytic defects connected to abnormal saposin processing.
Neuronal Ceroid-Lipofuscinoses
Palmitoyl protein thioesterase 1 is targeted to the axons in neurons.
Neuronal Ceroid-Lipofuscinoses
Palmitoyl protein thioesterase-1 deficiency impairs synaptic vesicle recycling at nerve terminals, contributing to neuropathology in humans and mice.
Neuronal Ceroid-Lipofuscinoses
Palmitoyl-protein thioesterase and the molecular pathogenesis of infantile neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Palmitoyl-protein thioesterase deficiency in fibroblasts of individuals with infantile neuronal ceroid lipofuscinosis and I-cell disease.
Neuronal Ceroid-Lipofuscinoses
Palmitoyl-protein thioesterase gene expression in the developing mouse brain and retina: implications for early loss of vision in infantile neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Palmitoyl-protein thioesterase-1 deficiency leads to the activation of caspase-9 and contributes to rapid neurodegeneration in INCL.
Neuronal Ceroid-Lipofuscinoses
Pathogenesis and therapies for infantile neuronal ceroid lipofuscinosis (infantile CLN1 disease).
Neuronal Ceroid-Lipofuscinoses
pdf1, a palmitoyl protein thioesterase 1 Ortholog in Schizosaccharomyces pombe: a yeast model of infantile Batten disease.
Neuronal Ceroid-Lipofuscinoses
Production of lysophosphatidylcholine by cPLA2 in the brain of mice lacking PPT1 is a signal for phagocyte infiltration.
Neuronal Ceroid-Lipofuscinoses
Proteomics insights into infantile neuronal ceroid lipofuscinosis (CLN1) point to the involvement of cilia pathology in the disease.
Neuronal Ceroid-Lipofuscinoses
RAGE signaling contributes to neuroinflammation in infantile neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Rat brain contains high levels of mannose-6-phosphorylated glycoproteins including lysosomal enzymes and palmitoyl-protein thioesterase, an enzyme implicated in infantile neuronal lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Regional and cellular neuropathology in the palmitoyl protein thioesterase-1 null mutant mouse model of infantile neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Role of palmitoyl-protein thioesterase in cell death: implications for infantile neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Selective N-Hydroxyhydantoin Carbamate Inhibitors of Mammalian Serine Hydrolases.
Neuronal Ceroid-Lipofuscinoses
Successive neuron loss in the thalamus and cortex in a mouse model of infantile neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Suppression of agrin-22 production and synaptic dysfunction in Cln1 (-/-) mice.
Neuronal Ceroid-Lipofuscinoses
Synergistic effects of central nervous system-directed gene therapy and bone marrow transplantation in the murine model of infantile neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Synergistic effects of treating the spinal cord and brain in CLN1 disease.
Neuronal Ceroid-Lipofuscinoses
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.
Neuronal Ceroid-Lipofuscinoses
The Batten disease Palmitoyl Protein Thioesterase 1 gene regulates neural specification and axon connectivity during Drosophila embryonic development.
Neuronal Ceroid-Lipofuscinoses
The blood-brain barrier is disrupted in a mouse model of infantile neuronal ceroid lipofuscinosis: amelioration by resveratrol.
Neuronal Ceroid-Lipofuscinoses
The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
The crystal structure of palmitoyl protein thioesterase-2 (PPT2) reveals the basis for divergent substrate specificities of the two lysosomal thioesterases, PPT1 and PPT2.
Neuronal Ceroid-Lipofuscinoses
The effects of lysosomotropic agents on normal and INCL cells provide further evidence for the lysosomal nature of palmitoyl-protein thioesterase function.
Neuronal Ceroid-Lipofuscinoses
The expression of palmitoyl-protein thioesterase is developmentally regulated in neural tissues but not in nonneural tissues.
Neuronal Ceroid-Lipofuscinoses
The Interactome of Palmitoyl-Protein Thioesterase 1 (PPT1) Affects Neuronal Morphology and Function.
Neuronal Ceroid-Lipofuscinoses
The mechanism and functional roles of protein palmitoylation in the nervous system.
Neuronal Ceroid-Lipofuscinoses
Tissue expression and subcellular localization of CLN3, the Batten disease protein.
Neuronal Ceroid-Lipofuscinoses
Tissue-specific variation in nonsense mutant transcript level and drug-induced read-through efficiency in the Cln1(R151X) mouse model of INCL.
Neuronal Ceroid-Lipofuscinoses
[Two novel mutations in palmitoyl-protein thioesterase gene in 2 Chinese babies with infantile neuronal ceroid lipofuscinosis]
Ovarian Neoplasms
Glycoproteomics of paclitaxel resistance in human epithelial ovarian cancer cell lines: towards the identification of putative biomarkers.
palmitoyl-coa hydrolase deficiency
CSF insulin-like growth factor-1 in infantile neuronal ceroid lipofuscinosis.
palmitoyl-coa hydrolase deficiency
Enzymatic and molecular biological analysis of palmitoyl protein thioesterase deficiency in infantile neuronal ceroid lipofuscinosis.
palmitoyl-coa hydrolase deficiency
[Neuronal ceroid lipofuscinosis. Closing chapter of a long story]
palmitoyl[protein] hydrolase deficiency
Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease.
palmitoyl[protein] hydrolase deficiency
Autosomal dominant adult neuronal ceroid lipofuscinosis: a novel form of NCL with granular osmiophilic deposits without palmitoyl protein thioesterase 1 deficiency.
palmitoyl[protein] hydrolase deficiency
CSF insulin-like growth factor-1 in infantile neuronal ceroid lipofuscinosis.
palmitoyl[protein] hydrolase deficiency
Enzymatic and molecular biological analysis of palmitoyl protein thioesterase deficiency in infantile neuronal ceroid lipofuscinosis.
palmitoyl[protein] hydrolase deficiency
Evaluation of disease progression in INCL by MR spectroscopy.
palmitoyl[protein] hydrolase deficiency
Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency.
palmitoyl[protein] hydrolase deficiency
Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis.
palmitoyl[protein] hydrolase deficiency
In a model of batten disease, palmitoyl protein thioesterase-1 deficiency is associated with brown adipose tissue and thermoregulation abnormalities.
palmitoyl[protein] hydrolase deficiency
Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency.
palmitoyl[protein] hydrolase deficiency
Low molecular weight storage material in infantile ceroid lipofuscinosis (CLN1).
palmitoyl[protein] hydrolase deficiency
Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.
palmitoyl[protein] hydrolase deficiency
MRI Brain Volume Measurements in Infantile Neuronal Ceroid Lipofuscinosis.
palmitoyl[protein] hydrolase deficiency
Palmitoyl protein thioesterase-1 deficiency impairs synaptic vesicle recycling at nerve terminals, contributing to neuropathology in humans and mice.
palmitoyl[protein] hydrolase deficiency
Palmitoyl-protein thioesterase 1 deficiency in Drosophila melanogaster causes accumulation of abnormal storage material and reduced life span.
palmitoyl[protein] hydrolase deficiency
Palmitoyl-protein thioesterase deficiency in a novel granular variant of LINCL.
palmitoyl[protein] hydrolase deficiency
Palmitoyl-protein thioesterase deficiency in fibroblasts of individuals with infantile neuronal ceroid lipofuscinosis and I-cell disease.
palmitoyl[protein] hydrolase deficiency
Palmitoyl-protein thioesterase-1 deficiency leads to the activation of caspase-9 and contributes to rapid neurodegeneration in INCL.
palmitoyl[protein] hydrolase deficiency
Palmitoyl-protein thioesterase-1 deficiency mediates the activation of the unfolded protein response and neuronal apoptosis in INCL.
palmitoyl[protein] hydrolase deficiency
[Neuronal ceroid lipofuscinosis. Closing chapter of a long story]
Retinal Degeneration
Antisense palmitoyl protein thioesterase 1 (PPT1) treatment inhibits PPT1 activity and increases cell death in LA-N-5 neuroblastoma cells.
Seizures
Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase.
Status Epilepticus
Status epilepticus induces changes in the expression and localization of endogenous palmitoyl-protein thioesterase 1.
html completed