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Search results 501 to 584 out of 584 for Npc1

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Type Details Score
Allele
Npc1l1<em1(IMPC)Bay> | MGI:7709805
Name: NPC1 like intracellular cholesterol transporter 1; endonuclease-mediated mutation 1, Baylor College of Medicine
Allele Type: Endonuclease-mediated
Attribute String: Null/knockout
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Allele
Npc1l1<em1Cya> | MGI:7794984
Name: NPC1 like intracellular cholesterol transporter 1; endonuclease-mediated mutation 1, Cyagen Biosciences
Allele Type: Endonuclease-mediated
Attribute String: Null/knockout
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Allele
Npc1<em3Smoc> | MGI:7291364
Name: NPC intracellular cholesterol transporter 1; endonuclease-mediated mutation 3, Shanghai Model Organisms Center
Allele Type: Endonuclease-mediated
Attribute String: Null/knockout
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Allele
Npc1<m1N> | MGI:1857409
 
Name: NPC intracellular cholesterol transporter 1; Niemann Pick type C1 NIH
Allele Type: Spontaneous
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Publication
28627641 | J:271944
First Author: Lin J
Year: 2017
Journal: Mol Med Rep
Title: Osteopontin deficiency protects mice from cholesterol gallstone formation by reducing expression of intestinal NPC1L1.
Volume: 16
Issue: 2
Pages: 1785-1792
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Publication
16414355 | J:104982
First Author: Duval C
Year: 2006
Journal: Biochem Biophys Res Commun
Title: Niemann-Pick C1 like 1 gene expression is down-regulated by LXR activators in the intestine.
Volume: 340
Issue: 4
Pages: 1259-63
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Publication
21187433 | J:168682
First Author: Ge L
Year: 2011
Journal: Proc Natl Acad Sci U S A
Title: Flotillins play an essential role in Niemann-Pick C1-like 1-mediated cholesterol uptake.
Volume: 108
Issue: 2
Pages: 551-6
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Strain
MGI:3716665 | C57BL/6-Npc1l1<tm1Yaio>
Attribute String: targeted mutation, mutant strain, coisogenic
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Strain
MGI:7835420 | C57BL/6N-Npc1l1<em1Cya>/Cya
Attribute String: coisogenic, endonuclease-mediated mutation, mutant strain
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Genotype
Genotype
Symbol: Npc1l1/Npc1l1
Background: involves: 129P2/OlaHsd * C57BL/6
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Npc1l1/Npc1l1
Background: C57BL/6-Npc1l1
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Npc1l1/Npc1l1
Background: involves: C57BL/6 * C57BL/6N
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Npc1l1/Npc1l1
Background: involves: C57BL/6N
Zygosity: hm
Has Mutant Allele: true
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Publication
19563754 | -
First Author: Kwon HJ
Year: 2009
Journal: Cell
Title: Structure of N-terminal domain of NPC1 reveals distinct subdomains for binding and transfer of cholesterol.
Volume: 137
Issue: 7
Pages: 1213-24
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Strain
MGI:6770995 | C57BL/6JSmoc-Npc1<em1Smoc>/Smoc
Attribute String: coisogenic, endonuclease-mediated mutation, mutant strain
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Publication
15604518 | J:96527
First Author: van der Veen JN
Year: 2005
Journal: J Lipid Res
Title: Reduced cholesterol absorption upon PPARdelta activation coincides with decreased intestinal expression of NPC1L1.
Volume: 46
Issue: 3
Pages: 526-34
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Protein Domain
IPR004765 | NPC1-like
Type: Family
Description: This family includes mammalian Niemann-Pick C1 (NPC1) protein and its homologues from plants and yeasts. Human NPC1 is a endosomal/lysosomal membrane protein that facilitates the trafficking of cholesterol and other cargo from lysosomes, and is involved in cholesterol homeostasis. Mutations in the NPC1 gene cause the rare neurodegenerative disease Niemann-Pick Type C (NPC) [].
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Allele
Npc1<em2Smoc> | MGI:7291363
Name: NPC intracellular cholesterol transporter 1; endonuclease-mediated mutation 2, Shanghai Model Organisms Center
Allele Type: Endonuclease-mediated
Attribute String: Conditional ready, No functional change
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Allele
Npc1<em1Smoc> | MGI:7291362
Name: NPC intracellular cholesterol transporter 1; endonuclease-mediated mutation 1, Shanghai Model Organisms Center
Allele Type: Endonuclease-mediated
Attribute String: Not Specified
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HT Experiment
GSE237585 | Single cell sequencing data of islets from WT and Npc1KO mice
 
Experiment Type: RNA-Seq
Study Type: WT vs. Mutant
Source: GEO
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Allele
Tg(Npc1-EGFP)KB67Gsat | MGI:4847267
Name: transgene insertion KB67, GENSAT Project at Rockefeller University
Allele Type: Transgenic
Attribute String: Reporter
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Strain
MGI:6355074 | C57BL/6JSmoc-Npc1<em1(I1060T)Smoc>/Smoc
Attribute String: coisogenic, mutant strain, endonuclease-mediated mutation
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Strain
MGI:6770996 | C57BL/6JSmoc-Npc1<em2Smoc>/Smoc
Attribute String: coisogenic, endonuclease-mediated mutation, mutant strain
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Publication
18356535 | J:136627
First Author: de Vogel-van den Bosch HM
Year: 2008
Journal: Am J Physiol Gastrointest Liver Physiol
Title: A cholesterol-free, high-fat diet suppresses gene expression of cholesterol transporters in murine small intestine.
Volume: 294
Issue: 5
Pages: G1171-80
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Allele
Npc1<nmf164> | MGI:2686741
Name: NPC intracellular cholesterol transporter 1; neuroscience mutagenesis facility, 164
Allele Type: Chemically induced (ENU)
Attribute String: Hypomorph
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Allele
Tg(APOE-NPC1L1)20Lqyu | MGI:3799059
Name: transgene insertion 20, Liqing Yu
Allele Type: Transgenic
Attribute String: Humanized sequence, Inserted expressed sequence
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Strain
MGI:5655927 | B6;D2-Tg(APOE-NPC1L1)20Lqyu/J
Attribute String: mutant stock, transgenic
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Publication
32123832 | J:283890
First Author: Toyoda Y
Year: 2019
Journal: FASEB Bioadv
Title: Identification of hepatic NPC1L1 as an NAFLD risk factor evidenced by ezetimibe-mediated steatosis prevention and recovery.
Volume: 1
Issue: 5
Pages: 283-295
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Publication
25600868 | J:222809
     
First Author: Warrier M
Year: 2015
Journal: Cell Rep
Title: The TMAO-Generating Enzyme Flavin Monooxygenase 3 Is a Central Regulator of Cholesterol Balance.
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Allele
Tg(APOE-NPC1L1)112Lqyu | MGI:4822042
Name: transgene insertion 112, Liqing Yu
Allele Type: Transgenic
Attribute String: Inserted expressed sequence
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Strain
MGI:5004056 | STOCK Tg(Npc1-EGFP)KB67Gsat/Mmucd
Attribute String: mutant stock, transgenic
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Strain
MGI:6359476 | B6(Cg)-Npc1<tm1Tacf>
Attribute String: mutant strain, targeted mutation
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Strain
MGI:6315235 | B6.Cg-Npc1<tm1Tacf>/J
Attribute String: congenic, mutant strain, targeted mutation
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Allele
Npc1<tm2Tacf> | MGI:6315236
Name: NPC intracellular cholesterol transporter 1; targeted mutation 2, The Addi and Cassi Fund
Allele Type: Targeted
Attribute String: Humanized sequence
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Genotype
Genotype
Symbol: Tg(APOE-NPC1L1)20Lqyu/?
Background: involves: C57BL/6 * DBA/2
Zygosity: ot
Has Mutant Allele: true
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Protein
Q3U2B2
Organism: Mus musculus/domesticus
Length: 1094  
Fragment?: false
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Strain
MGI:6359478 | B6(Cg)-Npc1<tm2Tacf>
Attribute String: mutant strain, targeted mutation
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Strain
MGI:6315237 | B6.Cg-Npc1<tm2Tacf>/J
Attribute String: targeted mutation, congenic, mutant strain
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Genotype
Genotype
Symbol: Npc1/Npc1
Background: B6(Cg)-Npc1
Zygosity: hm
Has Mutant Allele: true
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HT Experiment
E-GEOD-5944 | Transcription profiling of mouse BALB/c Npc1-/- and Npc1+/+ mutant cerebellum
Series Id: GSE5944
Experiment Type: transcription profiling by array
Study Type: WT vs. Mutant
Source: ArrayExpress
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Strain
MGI:2674921 | C57BL/6J-Npc1<nmf164>/J
Attribute String: mutant strain, coisogenic, chemically induced mutation
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Genotype
Genotype
Symbol: Npc1/Npc1
Background: C57BL/6J-Npc1/J
Zygosity: hm
Has Mutant Allele: true
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Protein
Q6T3U4
Organism: Mus musculus/domesticus
Length: 1333  
Fragment?: false
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Protein
O35604
Organism: Mus musculus/domesticus
Length: 1277  
Fragment?: false
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Protein
A3KMG9
Organism: Mus musculus/domesticus
Length: 1332  
Fragment?: true
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Protein
Z4YJC9
Organism: Mus musculus/domesticus
Length: 1333  
Fragment?: false
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Protein
Q7TMD4
Organism: Mus musculus/domesticus
Length: 1277  
Fragment?: false
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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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Publication
17571164 | J:124193
First Author: Temel RE
Year: 2007
Journal: J Clin Invest
Title: Hepatic Niemann-Pick C1-like 1 regulates biliary cholesterol concentration and is a target of ezetimibe.
Volume: 117
Issue: 7
Pages: 1968-78
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Publication
20620999 | J:163160
First Author: Temel RE
Year: 2010
Journal: Cell Metab
Title: Biliary sterol secretion is not required for macrophage reverse cholesterol transport.
Volume: 12
Issue: 1
Pages: 96-102
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Strain
MGI:6359480 | B6(Cg)-Npc1<tm1Tacf> Npc1<tm2Tacf>
Attribute String: targeted mutation, mutant strain
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Publication
9211849 | J:41464
First Author: Carstea ED
Year: 1997
Journal: Science
Title: Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.
Volume: 277
Issue: 5323
Pages: 228-31
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Publication
28658628 | J:254706
First Author: Wei J
Year: 2017
Journal: Cell Rep
Title: The GARP Complex Is Involved in Intracellular Cholesterol Transport via Targeting NPC2 to Lysosomes.
Volume: 19
Issue: 13
Pages: 2823-2835
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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
20416299 | J:161331
First Author: Peake KB
Year: 2010
Journal: FEBS Lett
Title: Defective cholesterol trafficking in Niemann-Pick C-deficient cells.
Volume: 584
Issue: 13
Pages: 2731-9
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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
26784526 | J:229976
First Author: Bosch M
Year: 2016
Journal: Am J Pathol
Title: Hepatic Primary and Secondary Cholesterol Deposition and Damage in Niemann-Pick Disease.
Volume: 186
Issue: 3
Pages: 517-23
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Publication
29601818 | J:270602
First Author: Wang Y
Year: 2018
Journal: Biochem Biophys Res Commun
Title: Hepatic NPC1L1 promotes hyperlipidemia in LDL receptor deficient mice.
Volume: 499
Issue: 3
Pages: 626-633
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Publication
15121881 | J:92521
First Author: Eskelinen EL
Year: 2004
Journal: Mol Biol Cell
Title: Disturbed cholesterol traffic but normal proteolytic function in LAMP-1/LAMP-2 double-deficient fibroblasts.
Volume: 15
Issue: 7
Pages: 3132-45
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Publication
32107002 | J:292259
First Author: Chatterjee S
Year: 2020
Journal: Biochem Biophys Res Commun
Title: Management of metabolic syndrome and reduction in body weight in type II diabetic mice by inhibiting glycosphingolipid synthesis.
Volume: 525
Issue: 2
Pages: 455-461
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Publication
37078466 | J:360785
First Author: Sleat DE
Year: 2023
Journal: J Inherit Metab Dis
Title: A mouse mutant deficient in both neuronal ceroid lipofuscinosis-associated proteins CLN3 and TPP1.
Volume: 46
Issue: 4
Pages: 720-734
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Publication
18948618 | J:155275
First Author: Liu W
Year: 2008
Journal: Circ Res
Title: Mutation in EGFP domain of LDL receptor-related protein 6 impairs cellular LDL clearance.
Volume: 103
Issue: 11
Pages: 1280-8
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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
15666818 | J:97494
First Author: Mellon S
Year: 2004
Journal: Endocr Res
Title: Niemann pick type C disease as a model for defects in neurosteroidogenesis.
Volume: 30
Issue: 4
Pages: 727-35
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Publication
21569847 | J:173243
First Author: Belarbi K
Year: 2011
Journal: Neurobiol Dis
Title: Beneficial effects of exercise in a transgenic mouse model of Alzheimer's disease-like Tau pathology.
Volume: 43
Issue: 2
Pages: 486-94
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Publication
36861884 | J:336775
 
First Author: Sterling FR
Year: 2023
Journal: J Cell Sci
Title: StARD9 is a novel lysosomal kinesin required for membrane tubulation, cholesterol transport and Purkinje cell survival.
Volume: 136
Issue: 5
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Publication
34183444 | J:338781
 
First Author: Guix FX
Year: 2021
Journal: Life Sci Alliance
Title: Increased exosome secretion in neurons aging in vitro by NPC1-mediated endosomal cholesterol buildup.
Volume: 4
Issue: 8
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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
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
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
30166346 | J:270265
First Author: Fleet AJ
Year: 2018
Journal: J Biol Chem
Title: The protein-specific activities of the transmembrane modules of Ptch1 and Ptch2 are determined by their adjacent protein domains.
Volume: 293
Issue: 43
Pages: 16583-16595
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Publication
32244854 | J:301188
 
First Author: Klein AD
Year: 2020
Journal: Int J Mol Sci
Title: Complement Component C3 Participates in Early Stages of Niemann-Pick C Mouse Liver Damage.
Volume: 21
Issue: 6
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Publication
35095535 | J:319739
 
First Author: Du J
Year: 2021
Journal: Front Pharmacol
Title: The Effects of Combined Therapy With Metformin and Hydroxypropyl-β-Cyclodextrin in a Mouse Model of Niemann-Pick Disease Type C1.
Volume: 12
Pages: 825425
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Publication
37500624 | J:354493
First Author: Min JO
Year: 2023
Journal: Cell Death Dis
Title: Statins suppress cell-to-cell propagation of α-synuclein by lowering cholesterol.
Volume: 14
Issue: 7
Pages: 474
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Publication
38696518 | J:349066
First Author: Nagarajan A
Year: 2024
Journal: PLoS Genet
Title: Collaborative Cross mice have diverse phenotypic responses to infection with Methicillin-resistant Staphylococcus aureus USA300.
Volume: 20
Issue: 5
Pages: e1011229
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Publication
31641049 | J:282353
First Author: Lei M
Year: 2019
Journal: J Neurosci
Title: Sphingosine Kinase 2 Potentiates Amyloid Deposition but Protects against Hippocampal Volume Loss and Demyelination in a Mouse Model of Alzheimer's Disease.
Volume: 39
Issue: 48
Pages: 9645-9659
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Publication
22179027 | J:185098
First Author: Boadu E
Year: 2012
Journal: Biochim Biophys Acta
Title: ABCA1-dependent mobilization of lysosomal cholesterol requires functional Niemann-Pick C2 but not Niemann-Pick C1 protein.
Volume: 1821
Issue: 3
Pages: 396-404
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Publication
- | J:265051
     
First Author: MGI and IMPC
Year: 2018
Journal: Database Release
Title: MGI Load of Endonuclease-Mediated Alleles (CRISPR) from the International Mouse Phenotyping Consortium (IMPC)
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Publication
- | J:94790
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Mouse Synonym Curation
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Publication
- | J:84900
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Journal: Database Download
Title: Integrating Computational Gene Models into the Mouse Genome Informatics (MGI) Database
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Publication
- | J:72247
       
First Author: DDB, FB, MGI, GOA, ZFIN curators
Year: 2001
Title: Gene Ontology annotation through association of InterPro records with GO terms
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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
- | 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:100256
     
First Author: The Gene Expression Nervous System Atlas (GENSAT) Project, The Rockefeller University (New York, NY)
Year: 2005
Journal: Database Download
Title: MGI download of GENSAT transgene data
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