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Search results 201 to 296 out of 296 for Npc2

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Type Details Score
Publication
- | J:200814
     
First Author: Toronto Centre for Phenogenomics
Year: 2013
Journal: MGI Direct Data Submission
Title: Strains and alleles submitted by Toronto Centre for Phenogenomics (NorCOMM2, funded by Genome Canada and Ontario Genomics Institute OGI-051).
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Publication
15582152 | J:102103
First Author: Jensen P
Year: 2004
Journal: Brain Res Mol Brain Res
Title: A neurogenomics approach to gene expression analysis in the developing brain.
Volume: 132
Issue: 2
Pages: 116-27
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Publication
24006456 | J:221550
First Author: Abonnenc M
Year: 2013
Journal: Circ Res
Title: Extracellular matrix secretion by cardiac fibroblasts: role of microRNA-29b and microRNA-30c.
Volume: 113
Issue: 10
Pages: 1138-47
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Publication
24154525 | J:205051
First Author: Miller JA
Year: 2013
Journal: Development
Title: Conserved molecular signatures of neurogenesis in the hippocampal subgranular zone of rodents and primates.
Volume: 140
Issue: 22
Pages: 4633-44
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Publication
- | J:68100
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2001
Title: RIKEN Data Curation in Mouse Genome Informatics
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Publication
10725249 | J:60984
First Author: Ko MS
Year: 2000
Journal: Development
Title: Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development.
Volume: 127
Issue: 8
Pages: 1737-49
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Publication
27626380 | J:236599
First Author: Dickinson ME
Year: 2016
Journal: Nature
Title: High-throughput discovery of novel developmental phenotypes.
Volume: 537
Issue: 7621
Pages: 508-514
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Publication
- | J:73065
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2001
Title: Gene Ontology Annotation by the MGI Curatorial Staff
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Publication
- | J:346132
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2016
Title: Automatic assignment of GO terms using logical inference, based on on inter-ontology links
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Publication
12520002 | J:91812
First Author: Stryke D
Year: 2003
Journal: Nucleic Acids Res
Title: BayGenomics: a resource of insertional mutations in mouse embryonic stem cells.
Volume: 31
Issue: 1
Pages: 278-81
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Publication
- | J:136110
     
First Author: Velocigene
Year: 2008
Journal: MGI Direct Data Submission
Title: Alleles produced for the KOMP project by Velocigene (Regeneron Pharmaceuticals)
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Publication
- | J:204812
     
First Author: International Mouse Strain Resource
Year: 2014
Journal: Database Download
Title: MGI download of germline transmission data for alleles from IMSR strain data
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Publication
- | J:155845
     
First Author: Wellcome Trust Sanger Institute
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the EUCOMM and EUCOMMTools projects by the Wellcome Trust Sanger Institute
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Publication
18799693 | J:142754
First Author: Hansen GM
Year: 2008
Journal: Genome Res
Title: Large-scale gene trapping in C57BL/6N mouse embryonic stem cells.
Volume: 18
Issue: 10
Pages: 1670-9
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Publication
- | J:211773
     
First Author: Mouse Genome Informatics and the International Mouse Phenotyping Consortium (IMPC)
Year: 2014
Journal: Database Release
Title: Obtaining and Loading Phenotype Annotations from the International Mouse Phenotyping Consortium (IMPC) Database
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Publication
- | J:342605
       
First Author: GOA curators
Year: 2016
Title: Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
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Publication
- | J:342604
       
First Author: UniProt-GOA
Year: 2012
Title: Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
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Publication
16141072 | J:99680
First Author: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
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11217851 | J:65060
First Author: Kawai J
Year: 2001
Journal: Nature
Title: Functional annotation of a full-length mouse cDNA collection.
Volume: 409
Issue: 6821
Pages: 685-90
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- | J:23000
       
First Author: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
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14610273 | J:86696
First Author: Zambrowicz BP
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention.
Volume: 100
Issue: 24
Pages: 14109-14
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Publication
- | J:141210
     
First Author: Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI)
Year: 2008
Journal: Database Download
Title: Mouse Gene Trap Data Load from dbGSS
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Publication
21677750 | J:173534
First Author: Skarnes WC
Year: 2011
Journal: Nature
Title: A conditional knockout resource for the genome-wide study of mouse gene function.
Volume: 474
Issue: 7351
Pages: 337-42
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Publication
- | J:293217
       
First Author: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
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Publication
- | J:60000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2000
Title: Gene Ontology Annotation by electronic association of SwissProt Keywords with GO terms
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Publication
- | J:68900
     
First Author: The Jackson Laboratory Mouse Radiation Hybrid Database
Year: 2004
Journal: Database Release
Title: Mouse T31 Radiation Hybrid Data Load
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12466851 | J:80000
First Author: Okazaki Y
Year: 2002
Journal: Nature
Title: Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.
Volume: 420
Issue: 6915
Pages: 563-73
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Publication
- | J:164563
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Title: Human to Mouse ISO GO annotation transfer
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Publication
21267068 | J:153498
First Author: Diez-Roux G
Year: 2011
Journal: PLoS Biol
Title: A high-resolution anatomical atlas of the transcriptome in the mouse embryo.
Volume: 9
Issue: 1
Pages: e1000582
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Publication
- | J:75000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
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Publication
- | J:157972
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2).
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Publication
- | J:57747
     
First Author: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
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Publication
- | J:161428
       
First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
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Publication
- | J:63103
     
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
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Publication
- | J:85324
     
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
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Publication
- | J:53168
     
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
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Publication
- | J:91388
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
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Publication
- | J:262123
     
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
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Publication
- | J:155721
     
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
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Publication
- | J:155221
     
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
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Publication
- | J:90438
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
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Publication
- | J:144087
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform
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Publication
- | J:144086
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform
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Protein Domain
IPR033916 | ML_Npc2-like
Type: Domain
Description: The MD-2-related lipid-recognition (ML) domain is implicated in lipid recognition, particularly in the recognition of pathogen related products. It has an immunoglobulin-like β-sandwich fold similar to that of E-set Ig domains. This domain is present in proteins from plants, animals and fungi, including the following proteins:Epididymal secretory protein E1 (also known as Niemann-Pick C2 protein - Npc2), which is known to bind cholesterol. Niemann-Pick disease type C2 is a fatal hereditary disease characterised by accumulation of low-density lipoprotein-derived cholesterol in lysosomes [].House-dust mite allergen proteins such as Der f 2 from Dermatophagoides farinae and Der p 2 from Dermatophagoides pteronyssinus [].This entry refers to the ML domain found in metazoan Npc2 as well and some similar proteins.
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Publication
15465426 | J:267948
First Author: Walkley SU
Year: 2004
Journal: Biochim Biophys Acta
Title: Consequences of NPC1 and NPC2 loss of function in mammalian neurons.
Volume: 1685
Issue: 1-3
Pages: 48-62
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Publication
37890669 | J:344360
First Author: Zhao N
Year: 2023
Journal: J Lipid Res
Title: TMEM241 is a UDP-N-acetylglucosamine transporter required for M6P modification of NPC2 and cholesterol transport.
Volume: 64
Issue: 12
Pages: 100465
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Publication
15710415 | -
First Author: Johannessen BR
Year: 2005
Journal: FEBS Lett
Title: Structure of the house dust mite allergen Der f 2: implications for function and molecular basis of IgE cross-reactivity.
Volume: 579
Issue: 5
Pages: 1208-12
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Protein
Q9Z0J0
Organism: Mus musculus/domesticus
Length: 149  
Fragment?: false
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Protein
Q3TXQ4
Organism: Mus musculus/domesticus
Length: 149  
Fragment?: false
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Protein
Q3U8F7
Organism: Mus musculus/domesticus
Length: 149  
Fragment?: false
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Protein
Q3U3C2
Organism: Mus musculus/domesticus
Length: 149  
Fragment?: false
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Allele
Npc2<tm1Plob> | MGI:3044774
Name: NPC intracellular cholesterol transporter 2; targeted mutation 1, Peter Lobel and David Sleat
Allele Type: Targeted
Attribute String: Null/knockout
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Strain
MGI:3759957 | C.129S1-Npc2<tm1Plob>
Attribute String: congenic, mutant strain, targeted mutation
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Genotype
Genotype
Symbol: Npc2/Npc2
Background: involves: 129S1/Sv * BALB/c * C57BL/6
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Npc2/Npc2
Background: involves: 129S1/Sv * C57BL/6
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Npc2/Npc2
Background: involves: 129S1/Sv
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Npc2/Npc2
Background: C.129S1-Npc2
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Npc2/Npc2
Background: involves: 129S1/Sv * BALB/c
Zygosity: hm
Has Mutant Allele: true
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HT Experiment
E-GEOD-20450 | Microarray analysis in Npc1-/- mouse cerebellum
Series Id: GSE20450
Experiment Type: transcription profiling by array
Study Type: WT vs. Mutant
Source: ArrayExpress
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Genotype
Genotype
Symbol: Npc1/Npc1 Npc2/Npc2
Background: involves: 129S1/Sv * BALB/c * C57BL/6
Zygosity: cx
Has Mutant Allele: true
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Publication
27551080 | J:235586
First Author: Li X
Year: 2016
Journal: Proc Natl Acad Sci U S A
Title: Clues to the mechanism of cholesterol transfer from the structure of NPC1 middle lumenal domain bound to NPC2.
Volume: 113
Issue: 36
Pages: 10079-84
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Publication
27940359 | J:241716
First Author: Kim H
Year: 2017
Journal: Biochem Biophys Res Commun
Title: The new obesity-associated protein, neuronal growth regulator 1 (NEGR1), is implicated in Niemann-Pick disease Type C (NPC2)-mediated cholesterol trafficking.
Volume: 482
Issue: 4
Pages: 1367-1374
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Publication
22872701 | J:188344
First Author: Elrick MJ
Year: 2012
Journal: Hum Mol Genet
Title: Impaired proteolysis underlies autophagic dysfunction in Niemann-Pick type C disease.
Volume: 21
Issue: 22
Pages: 4876-87
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Publication
18815434 | J:149006
First Author: Rimkunas VM
Year: 2009
Journal: J Lipid Res
Title: TNF-{alpha} plays a role in hepatocyte apoptosis in Niemann-Pick type C liver disease.
Volume: 50
Issue: 2
Pages: 327-33
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Publication
23992240 | J:216714
First Author: Maceyka M
Year: 2013
Journal: FEBS J
Title: The potential of histone deacetylase inhibitors in Niemann - Pick type C disease.
Volume: 280
Issue: 24
Pages: 6367-72
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Publication
21896731 | J:176587
First Author: Xie X
Year: 2011
Journal: Proc Natl Acad Sci U S A
Title: Amino acid substitution in NPC1 that abolishes cholesterol binding reproduces phenotype of complete NPC1 deficiency in mice.
Volume: 108
Issue: 37
Pages: 15330-5
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Publication
25754535 | J:222874
First Author: Liao YJ
Year: 2015
Journal: Int J Cancer
Title: Niemann-Pick type C2 protein regulates liver cancer progression via modulating ERK1/2 pathway: Clinicopathological correlations and therapeutical implications.
Volume: 137
Issue: 6
Pages: 1341-51
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Publication
27480224 | J:243753
First Author: Hu W
Year: 2016
Journal: Hepatology
Title: Nogo-B receptor deficiency increases liver X receptor alpha nuclear translocation and hepatic lipogenesis through an adenosine monophosphate-activated protein kinase alpha-dependent pathway.
Volume: 64
Issue: 5
Pages: 1559-1576
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Publication
37024714 | J:334826
First Author: Kim S
Year: 2023
Journal: Sci Rep
Title: Disruptive lysosomal-metabolic signaling and neurodevelopmental deficits that precede Purkinje cell loss in a mouse model of Niemann-Pick Type-C disease.
Volume: 13
Issue: 1
Pages: 5665
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Publication
21856732 | J:176888
First Author: Yu T
Year: 2011
Journal: Hum Mol Genet
Title: Temporal and cell-specific deletion establishes that neuronal Npc1 deficiency is sufficient to mediate neurodegeneration.
Volume: 20
Issue: 22
Pages: 4440-51
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Publication
31605022 | J:284112
First Author: Kavetsky L
Year: 2019
Journal: Sci Rep
Title: Increased interactions and engulfment of dendrites by microglia precede Purkinje cell degeneration in a mouse model of Niemann Pick Type-C.
Volume: 9
Issue: 1
Pages: 14722
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Publication
26771826 | J:249218
First Author: Marques AR
Year: 2016
Journal: PLoS One
Title: Gpnmb Is a Potential Marker for the Visceral Pathology in Niemann-Pick Type C Disease.
Volume: 11
Issue: 1
Pages: e0147208
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Publication
27378690 | J:237865
First Author: Ebrahimi-Fakhari D
Year: 2016
Journal: Hum Mol Genet
Title: Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells.
Volume: 25
Issue: 16
Pages: 3588-3599
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Publication
17314284 | J:118352
First Author: Suzuki M
Year: 2007
Journal: J Neurosci
Title: Endosomal accumulation of Toll-like receptor 4 causes constitutive secretion of cytokines and activation of signal transducers and activators of transcription in Niemann-Pick disease type C (NPC) fibroblasts: a potential basis for glial cell activation in the NPC brain.
Volume: 27
Issue: 8
Pages: 1879-91
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Publication
19893049 | J:155318
First Author: Amritraj A
Year: 2009
Journal: Am J Pathol
Title: Increased activity and altered subcellular distribution of lysosomal enzymes determine neuronal vulnerability in Niemann-Pick type C1-deficient mice.
Volume: 175
Issue: 6
Pages: 2540-56
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Publication
15652985 | J:105214
First Author: Deisz RA
Year: 2005
Journal: Neuroscience
Title: Pathological cholesterol metabolism fails to modify electrophysiological properties of afflicted neurones in Niemann-Pick disease type C.
Volume: 130
Issue: 4
Pages: 867-73
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Publication
20607864 | J:168042
First Author: Kodam A
Year: 2010
Journal: Glia
Title: Altered levels and distribution of amyloid precursor protein and its processing enzymes in Niemann-Pick type C1-deficient mouse brains.
Volume: 58
Issue: 11
Pages: 1267-81
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Publication
33503462 | J:343040
 
First Author: Ashikawa H
Year: 2021
Journal: Eur J Pharmacol
Title: Beneficial effects of primidone in Niemann-Pick disease type C (NPC)-model cells and mice: Reduction of unesterified cholesterol levels in cells and extension of lifespan in mice.
Volume: 896
Pages: 173907
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Publication
17631520 | J:124305
First Author: Liao G
Year: 2007
Journal: Am J Pathol
Title: Cholesterol accumulation is associated with lysosomal dysfunction and autophagic stress in Npc1 -/- mouse brain.
Volume: 171
Issue: 3
Pages: 962-75
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Publication
15835268 | J:104844
First Author: Li H
Year: 2005
Journal: J Neuropathol Exp Neurol
Title: Molecular, anatomical, and biochemical events associated with neurodegeneration in mice with Niemann-Pick type C disease.
Volume: 64
Issue: 4
Pages: 323-33
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Publication
20386595 | J:160166
First Author: Qin Q
Year: 2010
Journal: PLoS One
Title: Cholesterol Perturbation in Mice Results in p53 Degradation and Axonal Pathology through p38 MAPK and Mdm2 Activation.
Volume: 5
Issue: 4
Pages: e9999
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Publication
20456004 | J:161819
First Author: Hawes CM
Year: 2010
Journal: J Neurochem
Title: Pre-synaptic defects of NPC1-deficient hippocampal neurons are not directly related to plasma membrane cholesterol.
Volume: 114
Issue: 1
Pages: 311-22
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Publication
34720883 | J:312735
 
First Author: Van Hoecke L
Year: 2021
Journal: Front Cell Neurosci
Title: Involvement of the Choroid Plexus in the Pathogenesis of Niemann-Pick Disease Type C.
Volume: 15
Pages: 757482
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Publication
17468177 | J:125097
First Author: Pacheco CD
Year: 2007
Journal: Hum Mol Genet
Title: Autophagy in Niemann-Pick C disease is dependent upon Beclin-1 and responsive to lipid trafficking defects.
Volume: 16
Issue: 12
Pages: 1495-503
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Publication
19884502 | J:154766
First Author: Abi-Mosleh L
Year: 2009
Journal: Proc Natl Acad Sci U S A
Title: Cyclodextrin overcomes deficient lysosome-to-endoplasmic reticulum transport of cholesterol in Niemann-Pick type C cells.
Volume: 106
Issue: 46
Pages: 19316-21
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Publication
22158965 | J:183646
First Author: Makrypidi G
Year: 2012
Journal: Mol Cell Biol
Title: Mannose 6 dephosphorylation of lysosomal proteins mediated by acid phosphatases Acp2 and Acp5.
Volume: 32
Issue: 4
Pages: 774-82
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Publication
14963026 | J:89362
First Author: Kishida T
Year: 2004
Journal: J Biol Chem
Title: Targeted mutation of the MLN64 START domain causes only modest alterations in cellular sterol metabolism.
Volume: 279
Issue: 18
Pages: 19276-85
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Publication
25107912 | J:218156
First Author: Paton L
Year: 2014
Journal: J Biol Chem
Title: A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathology.
Volume: 289
Issue: 39
Pages: 26709-21
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Publication
16757520 | J:110348
First Author: Ohsaki Y
Year: 2006
Journal: J Cell Sci
Title: Cholesterol depletion facilitates ubiquitylation of NPC1 and its association with SKD1/Vps4.
Volume: 119
Issue: Pt 13
Pages: 2643-53
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Publication
16141411 | J:154834
First Author: Rigamonti E
Year: 2005
Journal: Circ Res
Title: Liver X receptor activation controls intracellular cholesterol trafficking and esterification in human macrophages.
Volume: 97
Issue: 7
Pages: 682-9
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Publication
11525744 | J:71464
First Author: Zervas M
Year: 2001
Journal: Curr Biol
Title: Critical role for glycosphingolipids in Niemann-Pick disease type C.
Volume: 11
Issue: 16
Pages: 1283-7
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Publication
17895371 | J:128336
First Author: Berger AC
Year: 2007
Journal: J Cell Sci
Title: The subcellular localization of the Niemann-Pick Type C proteins depends on the adaptor complex AP-3.
Volume: 120
Issue: Pt 20
Pages: 3640-52
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Publication
24487591 | J:209427
First Author: te Vruchte D
Year: 2014
Journal: J Clin Invest
Title: Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker.
Volume: 124
Issue: 3
Pages: 1320-8
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Publication
27402802 | J:235219
First Author: Guo H
Year: 2016
Journal: J Lipid Res
Title: Niemann-Pick type C2 deficiency impairs autophagy-lysosomal activity, mitochondrial function, and TLR signaling in adipocytes.
Volume: 57
Issue: 9
Pages: 1644-58
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Publication
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First Author: Nicoli ER
Year: 2016
Journal: PLoS One
Title: Defective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C Disease.
Volume: 11
Issue: 3
Pages: e0152007
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Publication
27466344 | J:234624
First Author: Demais V
Year: 2016
Journal: J Neurosci
Title: Reversal of Pathologic Lipid Accumulation in NPC1-Deficient Neurons by Drug-Promoted Release of LAMP1-Coated Lamellar Inclusions.
Volume: 36
Issue: 30
Pages: 8012-25
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MouseMine is a collaboration between MGI at The Jackson Laboratory and the InterMine project at the Cambridge Systems Biology Centre. MouseMine is funded through a grant from the NIH/NHGRI.The Jackson Laboratory makes no representation about the suitability or accuracy of this software or data for any purpose, and makes no warranties, either express or implied, including merchantability and fitness for a particular purpose or that the use of this software or data will not infringe any third party patents, copyrights, trademarks, or other rights. the software and data are provided "as is". This software and data are provided to enhance knowledge and encourage progress in the scientific community and are to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of the Jackson Laboratory.

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