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Search results 201 to 300 out of 300 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
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
- | 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
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: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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Publication
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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Publication
38355793 | J:345621
First Author: Adams DJ
Year: 2024
Journal: Nature
Title: Genetic determinants of micronucleus formation in vivo.
Volume: 627
Issue: 8002
Pages: 130-136
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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:293217
       
First Author: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
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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: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
- | J:326541
       
First Author: Cyagen Biosciences Inc.
Year: 2022
Title: Cyagen Biosciences Website.
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Publication
- | J:60000
       
First Author: UniProt-GOA
Year: 2012
Title: Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping
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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: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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Publication
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: The Gene Ontology Consortium
Year: 2010
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs
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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: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: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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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: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: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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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
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
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
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
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
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
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
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
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
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
20153740 | J:356292
 
First Author: Liao G
Year: 2010
Journal: Brain Res
Title: Abnormal gene expression in cerebellum of Npc1-/- mice during postnatal development.
Volume: 1325
Pages: 128-40
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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
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
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
22619379 | J:356441
First Author: Cluzeau CV
Year: 2012
Journal: Hum Mol Genet
Title: Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1.
Volume: 21
Issue: 16
Pages: 3632-46
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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
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
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
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
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
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
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
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
34023384 | J:353652
First Author: Ilnytska O
Year: 2021
Journal: J Biol Chem
Title: Enrichment of NPC1-deficient cells with the lipid LBPA stimulates autophagy, improves lysosomal function, and reduces cholesterol storage.
Volume: 297
Issue: 1
Pages: 100813
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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
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
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