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Search results 1 to 100 out of 458 for Ppt1

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Type Details Score
Gene
Type: gene
Organism: human
Gene
Type: gene
Organism: cattle
Gene
Type: gene
Organism: chicken
Gene
Type: gene
Organism: zebrafish
Gene
Type: gene
Organism: macaque, rhesus
Gene
Type: gene
Organism: frog, western clawed
Gene
Type: gene
Organism: rat
Gene
Type: gene
Organism: dog, domestic
Gene
Type: gene
Organism: chimpanzee
Protein Domain
Type: Family
Description: Palmitoyl-protein thioesterase 1 (PPT1) is responsible for the removal of a palmitate group from its substrate proteins, which may include presynaptic proteins like SNAP-25, cysteine string protein (CSP), dynamin, and synaptotagmin []. Mutations in the PPT1 gene cause infantile-onset neuronal ceroid lipofuscinosis (INCL), which is a severe pediatric neurodegenerative disorder []. This entry also includes uncharacterised proteins from fungi and plants.
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Cell Line Derivation
Derivation Type: Gene trapped
Name: CMHD Gene trapped Library C2 (Tcp) C57BL/6N pPT1
Creator: CMHD
Vector Type: Not Specified
Vector: pPT1
Cell Line Derivation
Derivation Type: Gene trapped
Name: CMHD Gene Trap Library GTL_R1_pPT1
Creator: CMHD
Vector Type: Not Specified
Vector: pPT1
Publication
First Author: Ou P
Year: 2019
Journal: J Exp Med
Title: Thioesterase PPT1 balances viral resistance and efficient T cell crosspriming in dendritic cells.
Volume: 216
Issue: 9
Pages: 2091-2112
Publication  
First Author: Zhang X
Year: 2022
Journal: Int J Mol Sci
Title: Seizures in PPT1 Knock-In Mice Are Associated with Inflammatory Activation of Microglia.
Volume: 23
Issue: 10
Publication
First Author: Gupta P
Year: 2001
Journal: Proc Natl Acad Sci U S A
Title: Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice.
Volume: 98
Issue: 24
Pages: 13566-71
Publication
First Author: Aby E
Year: 2013
Journal: Fly (Austin)
Title: Mutations in palmitoyl-protein thioesterase 1 alter exocytosis and endocytosis at synapses in Drosophila larvae.
Volume: 7
Issue: 4
Pages: 267-79
Publication
First Author: Hawkins-Salsbury JA
Year: 2013
Journal: Biochim Biophys Acta
Title: Pathogenesis and therapies for infantile neuronal ceroid lipofuscinosis (infantile CLN1 disease).
Volume: 1832
Issue: 11
Pages: 1906-9
Publication
First Author: Zhang Z
Year: 2007
Journal: Hum Mol Genet
Title: Production of lysophosphatidylcholine by cPLA2 in the brain of mice lacking PPT1 is a signal for phagocyte infiltration.
Volume: 16
Issue: 7
Pages: 837-47
Protein
Organism: Mus musculus/domesticus
Length: 306  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 306  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 306  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 197  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 197  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 179  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 302  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 306  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 307  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 306  
Fragment?: false
Publication
First Author: Lyly A
Year: 2008
Journal: Hum Mol Genet
Title: Deficiency of the INCL protein Ppt1 results in changes in ectopic F1-ATP synthase and altered cholesterol metabolism.
Volume: 17
Issue: 10
Pages: 1406-17
Publication
First Author: Jalanko A
Year: 2005
Journal: Neurobiol Dis
Title: Mice with Ppt1Deltaex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons.
Volume: 18
Issue: 1
Pages: 226-41
Publication
First Author: Sarkar C
Year: 2013
Journal: Nat Neurosci
Title: Neuroprotection and lifespan extension in Ppt1(-/-) mice by NtBuHA: therapeutic implications for INCL.
Volume: 16
Issue: 11
Pages: 1608-17
Publication
First Author: Tamaki SJ
Year: 2009
Journal: Cell Stem Cell
Title: Neuroprotection of host cells by human central nervous system stem cells in a mouse model of infantile neuronal ceroid lipofuscinosis.
Volume: 5
Issue: 3
Pages: 310-9
Publication
First Author: Kielar C
Year: 2007
Journal: Neurobiol Dis
Title: Successive neuron loss in the thalamus and cortex in a mouse model of infantile neuronal ceroid lipofuscinosis.
Volume: 25
Issue: 1
Pages: 150-62
Publication
First Author: Shyng C
Year: 2017
Journal: Proc Natl Acad Sci U S A
Title: Synergistic effects of treating the spinal cord and brain in CLN1 disease.
Volume: 114
Issue: 29
Pages: E5920-E5929
Publication
First Author: Kim SJ
Year: 2006
Journal: Hum Mol Genet
Title: Palmitoyl-protein thioesterase-1 deficiency leads to the activation of caspase-9 and contributes to rapid neurodegeneration in INCL.
Volume: 15
Issue: 10
Pages: 1580-6
Publication
First Author: Bouchelion A
Year: 2014
Journal: Ann Clin Transl Neurol
Title: Mice homozygous for c.451C>T mutation in Cln1 gene recapitulate INCL phenotype.
Volume: 1
Issue: 12
Pages: 1006-23
Publication
First Author: Gorenberg EL
Year: 2022
Journal: PLoS Biol
Title: Identification of substrates of palmitoyl protein thioesterase 1 highlights roles of depalmitoylation in disulfide bond formation and synaptic function.
Volume: 20
Issue: 3
Pages: e3001590
Publication
First Author: Segal-Salto M
Year: 2017
Journal: Hum Mol Genet
Title: Proteomics insights into infantile neuronal ceroid lipofuscinosis (CLN1) point to the involvement of cilia pathology in the disease.
Volume: 26
Issue: 9
Pages: 1678
Publication
First Author: Hu J
Year: 2012
Journal: Mol Genet Metab
Title: 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.
Volume: 107
Issue: 1-2
Pages: 213-21
Publication
First Author: Kim SJ
Year: 2008
Journal: J Clin Invest
Title: Palmitoyl protein thioesterase-1 deficiency impairs synaptic vesicle recycling at nerve terminals, contributing to neuropathology in humans and mice.
Volume: 118
Issue: 9
Pages: 3075-86
Publication
First Author: Zhang Z
Year: 2006
Journal: Hum Mol Genet
Title: Palmitoyl-protein thioesterase-1 deficiency mediates the activation of the unfolded protein response and neuronal apoptosis in INCL.
Volume: 15
Issue: 2
Pages: 337-46
Publication
First Author: Atiskova Y
Year: 2019
Journal: Sci Rep
Title: Mice deficient in the lysosomal enzyme palmitoyl-protein thioesterase 1 (PPT1) display a complex retinal phenotype.
Volume: 9
Issue: 1
Pages: 14185
Publication
First Author: Miller JN
Year: 2015
Journal: Hum Mol Genet
Title: The novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy.
Volume: 24
Issue: 1
Pages: 185-96
Publication
First Author: Zhao W
Year: 2019
Journal: Mol Reprod Dev
Title: Functional importance of palmitoyl protein thioesterase 1 (PPT1) expression by Sertoli cells in mediating cholesterol metabolism and maintenance of sperm quality.
Volume: 86
Issue: 8
Pages: 984-998
Publication
First Author: Ahtiainen L
Year: 2003
Journal: J Comp Neurol
Title: Palmitoyl protein thioesterase 1 is targeted to the axons in neurons.
Volume: 455
Issue: 3
Pages: 368-77
Publication
First Author: Ni H
Year: 2024
Journal: Nat Commun
Title: Cyclical palmitoylation regulates TLR9 signalling and systemic autoimmunity in mice.
Volume: 15
Issue: 1
Pages: 1
Publication
First Author: Khaibullina A
Year: 2012
Journal: PLoS One
Title: In a model of Batten disease, palmitoyl protein thioesterase-1 deficiency is associated with brown adipose tissue and thermoregulation abnormalities.
Volume: 7
Issue: 11
Pages: e48733
Publication
First Author: Lange J
Year: 2018
Journal: Acta Neuropathol Commun
Title: Compromised astrocyte function and survival negatively impact neurons in infantile neuronal ceroid lipofuscinosis.
Volume: 6
Issue: 1
Pages: 74
Publication
First Author: Ahtiainen L
Year: 2006
Journal: Exp Cell Res
Title: Palmitoyl protein thioesterase 1 (PPT1) deficiency causes endocytic defects connected to abnormal saposin processing.
Volume: 312
Issue: 9
Pages: 1540-53
Publication    
First Author: Koster KP
Year: 2019
Journal: Elife
Title: Developmental NMDA receptor dysregulation in the infantile neuronal ceroid lipofuscinosis mouse model.
Volume: 8
Publication
First Author: Virmani T
Year: 2005
Journal: Neurobiol Dis
Title: Progressively reduced synaptic vesicle pool size in cultured neurons derived from neuronal ceroid lipofuscinosis-1 knockout mice.
Volume: 20
Issue: 2
Pages: 314-23
Publication  
First Author: Yuan W
Year: 2021
Journal: Proc Natl Acad Sci U S A
Title: GFAP hyperpalmitoylation exacerbates astrogliosis and neurodegenerative pathology in PPT1-deficient mice.
Volume: 118
Issue: 13
Publication
First Author: Tardy C
Year: 2009
Journal: Biochim Biophys Acta
Title: Palmitoyl protein thioesterase 1 modulates tumor necrosis factor alpha-induced apoptosis.
Volume: 1793
Issue: 7
Pages: 1250-8
Publication
First Author: Macauley SL
Year: 2011
Journal: J Neurosci
Title: The role of attenuated astrocyte activation in infantile neuronal ceroid lipofuscinosis.
Volume: 31
Issue: 43
Pages: 15575-85
Publication
First Author: Sarkar C
Year: 2020
Journal: J Inherit Metab Dis
Title: Cln1-mutations suppress Rab7-RILP interaction and impair autophagy contributing to neuropathology in a mouse model of infantile neuronal ceroid lipofuscinosis.
Volume: 43
Issue: 5
Pages: 1082-1101
Publication
First Author: Perez-Canamas A
Year: 2021
Journal: Brain Commun
Title: Fronto-temporal dementia risk gene TMEM106B has opposing effects in different lysosomal storage disorders.
Volume: 3
Issue: 1
Pages: fcaa200
Publication  
First Author: Lyly A
Year: 2009
Journal: BMC Cell Biol
Title: Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins.
Volume: 10
Pages: 83
Publication
First Author: Cho SK
Year: 2005
Journal: Glycobiology
Title: Characterization of lipid-linked oligosaccharide accumulation in mouse models of Batten disease.
Volume: 15
Issue: 6
Pages: 637-48
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus caroli
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus pahari
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus spretus
Publication
First Author: Zhang Z
Year: 1999
Journal: Gene
Title: Palmitoyl-protein thioesterase gene expression in the developing mouse brain and retina: implications for early loss of vision in infantile neuronal ceroid lipofuscinosis.
Volume: 231
Issue: 1-2
Pages: 203-11
Publication
First Author: Ahtiainen L
Year: 2007
Journal: Neurobiol Dis
Title: Palmitoyl protein thioesterase 1 (Ppt1)-deficient mouse neurons show alterations in cholesterol metabolism and calcium homeostasis prior to synaptic dysfunction.
Volume: 28
Issue: 1
Pages: 52-64
Publication
First Author: Bible E
Year: 2004
Journal: Neurobiol Dis
Title: Regional and cellular neuropathology in the palmitoyl protein thioesterase-1 null mutant mouse model of infantile neuronal ceroid lipofuscinosis.
Volume: 16
Issue: 2
Pages: 346-59
Publication  
First Author: Sapir T
Year: 2019
Journal: Front Cell Neurosci
Title: The Interactome of Palmitoyl-Protein Thioesterase 1 (PPT1) Affects Neuronal Morphology and Function.
Volume: 13
Pages: 92
Publication
First Author: Berve K
Year: 2020
Journal: J Neuroinflammation
Title: Sex- and region-biased depletion of microglia/macrophages attenuates CLN1 disease in mice.
Volume: 17
Issue: 1
Pages: 323
Publication  
First Author: Sadhukhan T
Year: 2021
Journal: Biochem Biophys Res Commun
Title: Ablation of microRNA-155 and neuroinflammation in a mouse model of CLN1-disease.
Volume: 571
Pages: 137-144
Publication
First Author: Macauley SL
Year: 2009
Journal: Exp Neurol
Title: Cerebellar pathology and motor deficits in the palmitoyl protein thioesterase 1-deficient mouse.
Volume: 217
Issue: 1
Pages: 124-35
Publication  
First Author: Dearborn JT
Year: 2015
Journal: Sci Rep
Title: Comprehensive functional characterization of murine infantile Batten disease including Parkinson-like behavior and dopaminergic markers.
Volume: 5
Pages: 12752
Publication
First Author: Nelvagal HR
Year: 2020
Journal: Sci Rep
Title: Comparative proteomic profiling reveals mechanisms for early spinal cord vulnerability in CLN1 disease.
Volume: 10
Issue: 1
Pages: 15157
Publication
First Author: Peviani M
Year: 2023
Journal: EMBO Mol Med
Title: An innovative hematopoietic stem cell gene therapy approach benefits CLN1 disease in the mouse model.
Volume: 15
Issue: 4
Pages: e15968
Publication  
First Author: Bagh MB
Year: 2017
Journal: Nat Commun
Title: Misrouting of v-ATPase subunit V0a1 dysregulates lysosomal acidification in a neurodegenerative lysosomal storage disease model.
Volume: 8
Pages: 14612
Publication
First Author: Dearborn JT
Year: 2022
Journal: Sci Rep
Title: Effects of chronic cannabidiol in a mouse model of naturally occurring neuroinflammation, neurodegeneration, and spontaneous seizures.
Volume: 12
Issue: 1
Pages: 11286
Publication
First Author: Macauley SL
Year: 2014
Journal: J Neurosci
Title: An anti-neuroinflammatory that targets dysregulated glia enhances the efficacy of CNS-directed gene therapy in murine infantile neuronal ceroid lipofuscinosis.
Volume: 34
Issue: 39
Pages: 13077-82
Publication
First Author: Finn R
Year: 2013
Journal: J Child Neurol
Title: Treatment of the Ppt1(-/-) mouse model of infantile neuronal ceroid lipofuscinosis with the N-methyl-D-aspartate (NMDA) receptor antagonist memantine.
Volume: 28
Issue: 9
Pages: 1159-68
Publication
First Author: Saha A
Year: 2012
Journal: Hum Mol Genet
Title: The blood-brain barrier is disrupted in a mouse model of infantile neuronal ceroid lipofuscinosis: amelioration by resveratrol.
Volume: 21
Issue: 10
Pages: 2233-44
Publication
First Author: Isosomppi J
Year: 1999
Journal: Brain Res Dev Brain Res
Title: Developmental expression of palmitoyl protein thioesterase in normal mice.
Volume: 118
Issue: 1-2
Pages: 1-11
GXD Expression  
Probe: MGI:3724893
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:3516422
Pattern: Regionally restricted
Stage: TS22
Assay Id: MGI:5421544
Age: embryonic day 14.5
Image: MH1487; Specimen C1536
Specimen Label: MH1487; Specimen C1536
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:4426104
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:3516422
Stage: TS22
Assay Id: MGI:5422331
Age: embryonic day 14.5
Specimen Label: ES2567; Specimen S973
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:4426104
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1716122
Stage: TS22
Assay Id: MGI:5422331
Age: embryonic day 14.5
Specimen Label: ES2567; Specimen S973
Detected: false
Specimen Num: 1
GXD Expression  
Probe: MGI:3724893
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1691622
Pattern: Regionally restricted
Stage: TS22
Assay Id: MGI:5421544
Age: embryonic day 14.5
Image: MH1487; Specimen C1536
Specimen Label: MH1487; Specimen C1536
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:4426104
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1691622
Pattern: Regionally restricted
Stage: TS22
Assay Id: MGI:5422331
Age: embryonic day 14.5
Image: ES2567; Specimen S973
Specimen Label: ES2567; Specimen S973
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:3724893
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1760622
Pattern: Regionally restricted
Stage: TS22
Assay Id: MGI:5421544
Age: embryonic day 14.5
Image: MH1487; Specimen C1536
Specimen Label: MH1487; Specimen C1536
Detected: true
Specimen Num: 1