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Search results 501 to 562 out of 562 for Npc1

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Type

Details

Score

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

•

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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Strain

MGI:6770996 | C57BL/6J-Npc1<em2Smoc>/Smoc

Attribute String:

coisogenic, endonuclease-mediated mutation, mutant strain

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Strain

MGI:6355074 | C57BL/6J-Npc1<em1(I1060T)Smoc>/Smoc

Attribute String:

coisogenic, mutant strain, endonuclease-mediated mutation

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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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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

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

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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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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Strain

MGI:6315235 | B6.Cg-Npc1<tm1Tacf>/J

Attribute String:

congenic, mutant strain, targeted mutation

•

Strain

MGI:6359476 | B6(Cg)-Npc1<tm1Tacf>

Attribute String:

mutant strain, targeted mutation

•

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

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

•

Strain

MGI:5004056 | STOCK Tg(Npc1-EGFP)KB67Gsat/Mmucd

Attribute String:

mutant stock, transgenic

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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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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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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:6315237 | B6.Cg-Npc1<tm2Tacf>/J

Attribute String:

targeted mutation, congenic, mutant strain

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Strain

MGI:6359478 | B6(Cg)-Npc1<tm2Tacf>

Attribute String:

mutant strain, targeted mutation

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Genotype

Symbol:	Npc1/Npc1
Background:	B6(Cg)-Npc1
Zygosity:	hm
Has Mutant Allele:	true

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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

Symbol:	Npc1/Npc1
Background:	C57BL/6J-Npc1/J
Zygosity:	hm
Has Mutant Allele:	true

•

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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Protein

Q6T3U4

Organism:	Mus musculus/domesticus
Length:	1333
Fragment?:	false

•

Protein

O35604

Organism:	Mus musculus/domesticus
Length:	1277
Fragment?:	false

•

Protein

A3KMG9

Organism:	Mus musculus/domesticus
Length:	1332
Fragment?:	true

•

Protein

Z4YJC9

Organism:	Mus musculus/domesticus
Length:	1333
Fragment?:	false

•

Protein

Q7TMD4

Organism:	Mus musculus/domesticus
Length:	1277
Fragment?:	false

•

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

•

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

•

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

•

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

•

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

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

•

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

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

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

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

•

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

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

•

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

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

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:94790

First Author:	Mouse Genome Informatics Scientific Curators
Year:	2005

Title:	Mouse Synonym Curation

•

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: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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