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Search results 1 to 100 out of 560 for Npc1

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Type Details Score
Gene
4864 | NPC1
Type: gene
Organism: human
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Gene
286772 | NPC1
Type: gene
Organism: cattle
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Gene
397591 | NPC1
Type: gene
Organism: pig, domestic
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Gene
421076 | NPC1
Type: gene
Organism: chicken
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Gene
553330 | npc1
Type: gene
Organism: zebrafish
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Gene
700835 | NPC1
Type: gene
Organism: macaque, rhesus
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Gene
100494646 | npc1
Type: gene
Organism: frog, western clawed
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Gene
403698 | NPC1
Type: gene
Organism: dog, domestic
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Gene
455338 | NPC1
Type: gene
Organism: chimpanzee
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Gene
266732 | Npc1
Type: gene
Organism: rat
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Protein Coding Gene
MGI:1097712 | Npc1
Type: protein_coding_gene
Organism: mouse, laboratory
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Publication
32410728 | J:305624
   
First Author: Saha P
Year: 2020
Journal: Elife
Title: Inter-domain dynamics drive cholesterol transport by NPC1 and NPC1L1 proteins.
Volume: 9
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Publication
31535451 | J:293074
First Author: Mitroi DN
Year: 2019
Journal: EMBO Rep
Title: NPC1 enables cholesterol mobilization during long-term potentiation that can be restored in Niemann-Pick disease type C by CYP46A1 activation.
Volume: 20
Issue: 11
Pages: e48143
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Publication
38033125 | J:343481
First Author: MacLeod CM
Year: 2023
Journal: PLoS One
Title: Trehalose enhances mitochondria deficits in human NPC1 mutant fibroblasts but disrupts mouse Purkinje cell dendritic growth ex vivo.
Volume: 18
Issue: 11
Pages: e0294312
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Gene
29881 | NPC1L1
Type: gene
Organism: human
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Publication
10936208 | J:64026
First Author: Prasad A
Year: 2000
Journal: J Neurochem
Title: Regional and developmental expression of the Npc1 mRNA in the mouse brain.
Volume: 75
Issue: 3
Pages: 1250-7
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Publication
32611604 | J:295300
 
First Author: Boyle BR
Year: 2020
Journal: Development
Title: NPC1 deficiency impairs cerebellar postnatal development of microglia and climbing fiber refinement in a mouse model of Niemann-Pick disease type C.
Volume: 147
Issue: 21
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Publication
33627648 | J:303941
First Author: Colombo A
Year: 2021
Journal: Nat Commun
Title: Loss of NPC1 enhances phagocytic uptake and impairs lipid trafficking in microglia.
Volume: 12
Issue: 1
Pages: 1158
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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
17880278 | J:126287
First Author: Dixit SS
Year: 2007
Journal: Biochem J
Title: Do mammalian NPC1 and NPC2 play a role in intestinal cholesterol absorption?
Volume: 408
Issue: 1
Pages: 1-5
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Publication
25864931 | J:225461
 
First Author: Liao G
Year: 2015
Journal: Exp Neurol
Title: Enhanced expression of matrix metalloproteinase-12 contributes to Npc1 deficiency-induced axonal degeneration.
Volume: 269
Pages: 67-74
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Publication
30202070 | J:268663
First Author: Schultz ML
Year: 2018
Journal: Nat Commun
Title: Coordinate regulation of mutant NPC1 degradation by selective ER autophagy and MARCH6-dependent ERAD.
Volume: 9
Issue: 1
Pages: 3671
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Publication
18500759 | J:162211
First Author: Zhang M
Year: 2008
Journal: J Neurosci Res
Title: Astrocyte-only Npc1 reduces neuronal cholesterol and triples life span of Npc1-/- mice.
Volume: 86
Issue: 13
Pages: 2848-56
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Publication
24910948 | J:213994
 
First Author: Buard I
Year: 2014
Journal: Mol Cell Neurosci
Title: Relevance of neuronal and glial NPC1 for synaptic input to cerebellar Purkinje cells.
Volume: 61
Pages: 65-71
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Publication
10967137 | J:64316
First Author: Hsu SJ
Year: 2000
Journal: Mamm Genome
Title: Fine linkage and physical mapping suggests cross-over suppression with a retroposon insertion at the npc1 mutation.
Volume: 11
Issue: 9
Pages: 774-8
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Publication
27860245 | J:312646
First Author: Zhang B
Year: 2017
Journal: J Cell Mol Med
Title: Telocytes: a potential defender in the spleen of Npc1 mutant mice.
Volume: 21
Issue: 5
Pages: 848-859
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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
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
24644136 | J:210979
First Author: Yan X
Year: 2014
Journal: Glia
Title: Hyperactive glial cells contribute to axonal pathologies in the spinal cord of Npc1 mutant mice.
Volume: 62
Issue: 7
Pages: 1024-40
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Publication
36614015 | J:332613
 
First Author: Antipova V
Year: 2022
Journal: Int J Mol Sci
Title: Organ Weights in NPC1 Mutant Mice Partly Normalized by Various Pharmacological Treatment Approaches.
Volume: 24
Issue: 1
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Publication
12417532 | J:80487
First Author: Loftus SK
Year: 2002
Journal: Hum Mol Genet
Title: Rescue of neurodegeneration in Niemann-Pick C mice by a prion-promoter-driven Npc1 cDNA transgene.
Volume: 11
Issue: 24
Pages: 3107-14
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Publication
21036943 | J:166906
First Author: Jelinek D
Year: 2011
Journal: Hum Mol Genet
Title: Npc1 haploinsufficiency promotes weight gain and metabolic features associated with insulin resistance.
Volume: 20
Issue: 2
Pages: 312-21
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Publication
21910975 | J:177519
First Author: Parra J
Year: 2011
Journal: Biochem Biophys Res Commun
Title: Npc1 deficiency in the C57BL/6J genetic background enhances Niemann-Pick disease type C spleen pathology.
Volume: 413
Issue: 3
Pages: 400-6
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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
38505613 | J:346373
First Author: Liu B
Year: 2024
Journal: Theranostics
Title: NPC1 is required for postnatal islet β cell differentiation by maintaining mitochondria turnover.
Volume: 14
Issue: 5
Pages: 2058-2074
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Publication
31628414 | J:284052
First Author: Houben T
Year: 2019
Journal: Sci Rep
Title: Hematopoietic Npc1 mutation shifts gut microbiota composition in Ldlr-/- mice on a high-fat, high-cholesterol diet.
Volume: 9
Issue: 1
Pages: 14956
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Publication
15071184 | J:89617
First Author: Sleat DE
Year: 2004
Journal: Proc Natl Acad Sci U S A
Title: Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport.
Volume: 101
Issue: 16
Pages: 5886-91
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Publication
35507892 | J:346341
First Author: Rogers MA
Year: 2022
Journal: Proc Natl Acad Sci U S A
Title: Acat1/Soat1 knockout extends the mutant Npc1 mouse lifespan and ameliorates functional deficiencies in multiple organelles of mutant cells.
Volume: 119
Issue: 18
Pages: e2201646119
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Publication
23593041 | J:195479
First Author: Yu T
Year: 2013
Journal: PLoS Genet
Title: Npc1 acting in neurons and glia is essential for the formation and maintenance of CNS myelin.
Volume: 9
Issue: 4
Pages: e1003462
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Publication
37407594 | J:337942
First Author: Kunkel TJ
Year: 2023
Journal: Nat Commun
Title: The cholesterol transporter NPC1 is essential for epigenetic regulation and maturation of oligodendrocyte lineage cells.
Volume: 14
Issue: 1
Pages: 3964
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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
15919659 | J:100816
First Author: Yu W
Year: 2005
Journal: J Biol Chem
Title: Neurodegeneration in heterozygous Niemann-Pick type C1 (NPC1) mouse: implication of heterozygous NPC1 mutations being a risk for tauopathy.
Volume: 280
Issue: 29
Pages: 27296-302
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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
18077828 | J:133425
First Author: Liu B
Year: 2008
Journal: J Lipid Res
Title: Genetic variations and treatments that affect the lifespan of the NPC1 mouse.
Volume: 49
Issue: 3
Pages: 663-9
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Publication
22163015 | J:182268
First Author: Hovakimyan M
Year: 2011
Journal: PLoS One
Title: Corneal alterations during combined therapy with cyclodextrin/allopregnanolone and miglustat in a knock-out mouse model of NPC1 disease.
Volume: 6
Issue: 12
Pages: e28418
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Publication
26433932 | J:226837
First Author: Maulik M
Year: 2015
Journal: Hum Mol Genet
Title: APP overexpression in the absence of NPC1 exacerbates metabolism of amyloidogenic proteins of Alzheimer's disease.
Volume: 24
Issue: 24
Pages: 7132-50
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Publication
18450647 | J:138451
First Author: Li H
Year: 2008
Journal: J Lipid Res
Title: GM2/GD2 and GM3 gangliosides have no effect on cellular cholesterol pools or turnover in normal or NPC1 mice.
Volume: 49
Issue: 8
Pages: 1816-28
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Publication
16461760 | J:109000
First Author: Xie C
Year: 2006
Journal: J Lipid Res
Title: Cholesterol substrate pools and steroid hormone levels are normal in the face of mutational inactivation of NPC1 protein.
Volume: 47
Issue: 5
Pages: 953-63
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Publication
21289032 | J:170933
First Author: Ramirez CM
Year: 2011
Journal: J Lipid Res
Title: Quantitative role of LAL, NPC2, and NPC1 in lysosomal cholesterol processing defined by genetic and pharmacological manipulations.
Volume: 52
Issue: 4
Pages: 688-98
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Publication
28082351 | J:255062
First Author: Newton J
Year: 2017
Journal: FASEB J
Title: FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann-Pick type C mutant fibroblasts.
Volume: 31
Issue: 4
Pages: 1719-1730
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Publication
18160655 | J:130969
First Author: Repa JJ
Year: 2007
Journal: J Neurosci
Title: Liver X receptor activation enhances cholesterol loss from the brain, decreases neuroinflammation, and increases survival of the NPC1 mouse.
Volume: 27
Issue: 52
Pages: 14470-80
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Publication
19965601 | J:160197
First Author: Liu B
Year: 2010
Journal: J Lipid Res
Title: Cyclodextrin overcomes the transport defect in nearly every organ of NPC1 mice leading to excretion of sequestered cholesterol as bile acid.
Volume: 51
Issue: 5
Pages: 933-44
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Publication
10036317 | J:53367
First Author: Garver WS
Year: 1999
Journal: Biochim Biophys Acta
Title: The Npc1 mutation causes an altered expression of caveolin-1, annexin II and protein kinases and phosphorylation of caveolin-1 and annexin II in murine livers.
Volume: 1453
Issue: 2
Pages: 193-206
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Publication
28130309 | J:246078
First Author: Liu R
Year: 2017
Journal: Diabetes
Title: Rare Loss-of-Function Variants in NPC1 Predispose to Human Obesity.
Volume: 66
Issue: 4
Pages: 935-947
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Publication
21507342 | J:173215
First Author: Xu S
Year: 2011
Journal: Neurosci Lett
Title: Presynaptic impairment in Niemann-Pick C1-deficient neurons: not dependent on presence of glial cells.
Volume: 496
Issue: 1
Pages: 54-9
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Publication
15544574 | J:117523
First Author: Karten B
Year: 2005
Journal: Biochem J
Title: Generation and function of astroglial lipoproteins from Niemann-Pick type C1-deficient mice.
Volume: 387
Issue: Pt 3
Pages: 779-88
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Publication
20007703 | J:161675
First Author: Goldman SD
Year: 2010
Journal: J Biol Chem
Title: Niemann-Pick C1 functions independently of Niemann-Pick C2 in the initial stage of retrograde transport of membrane-impermeable lysosomal cargo.
Volume: 285
Issue: 7
Pages: 4983-94
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DO Term
DOID:0070113 | Niemann-Pick disease type C1
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Publication
16192643 | J:101694
First Author: Bi X
Year: 2005
Journal: Am J Pathol
Title: Deregulation of the phosphatidylinositol-3 kinase signaling cascade is associated with neurodegeneration in Npc1-/- mouse brain.
Volume: 167
Issue: 4
Pages: 1081-92
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Publication
27896072 | J:251768
 
First Author: Tanaka Y
Year: 2014
Journal: Mol Genet Metab Rep
Title: Influence of Npc1 genotype on the toxicity of hydroxypropyl-β-cyclodextrin, a potentially therapeutic agent, in Niemann-Pick Type C disease models.
Volume: 1
Pages: 19-30
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Gene
100487339 | npc1l1
Type: gene
Organism: frog, western clawed
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Publication
31178699 | J:284395
 
First Author: Lucarelli M
Year: 2019
Journal: Front Cell Neurosci
Title: Anomalies in Dopamine Transporter Expression and Primary Cilium Distribution in the Dorsal Striatum of a Mouse Model of Niemann-Pick C1 Disease.
Volume: 13
Pages: 226
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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
31862414 | J:304696
 
First Author: Erickson RP
Year: 2020
Journal: Mitochondrion
Title: Decreased membrane cholesterol in liver mitochondria of the point mutation mouse model of juvenile Niemann-Pick C1, Npc1nmf164.
Volume: 51
Pages: 15-21
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Publication
29497113 | J:263706
First Author: Alam MS
Year: 2018
Journal: Sci Rep
Title: Tolerance of chronic HDACi treatment for neurological, visceral and lung Niemann-Pick Type C disease in mice.
Volume: 8
Issue: 1
Pages: 3875
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Publication
28167839 | J:266795
 
First Author: Gómez-Grau M
Year: 2017
Journal: Sci Rep
Title: New murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease.
Volume: 7
Pages: 41931
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Publication
32794098 | J:327454
First Author: Smith AF
Year: 2020
Journal: J Appl Genet
Title: Haploinsufficiency of tau decreases survival of the mouse model of Niemann-Pick disease type C1 but does not alter tau phosphorylation.
Volume: 61
Issue: 4
Pages: 567-570
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Publication
22048958 | J:179744
First Author: Maue RA
Year: 2012
Journal: Hum Mol Genet
Title: A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations.
Volume: 21
Issue: 4
Pages: 730-50
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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
28031458 | J:241391
First Author: Munkacsi AB
Year: 2017
Journal: J Biol Chem
Title: Normalization of Hepatic Homeostasis in the Npc1nmf164 Mouse Model of Niemann-Pick Type C Disease Treated with the Histone Deacetylase Inhibitor Vorinostat.
Volume: 292
Issue: 11
Pages: 4395-4410
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Publication
31302243 | J:279752
 
First Author: Oddi S
Year: 2019
Journal: Neurobiol Dis
Title: The endocannabinoid system is affected by cholesterol dyshomeostasis: Insights from a murine model of Niemann Pick type C disease.
Volume: 130
Pages: 104531
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Publication
33016621 | J:317142
First Author: Bartoll A
Year: 2020
Journal: EMBO Mol Med
Title: Inhibition of fatty acid amide hydrolase prevents pathology in neurovisceral acid sphingomyelinase deficiency by rescuing defective endocannabinoid signaling.
Volume: 12
Issue: 11
Pages: e11776
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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
10682308 | J:60459
First Author: Erickson RP
Year: 2000
Journal: J Inherit Metab Dis
Title: Pharmacological and genetic modifications of somatic cholesterol do not substantially alter the course of CNS disease in Niemann-Pick C mice.
Volume: 23
Issue: 1
Pages: 54-62
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Publication
33810307 | J:338511
 
First Author: Griñán-Ferré C
Year: 2021
Journal: Int J Mol Sci
Title: Inhibition of Soluble Epoxide Hydrolase Ameliorates Phenotype and Cognitive Abilities in a Murine Model of Niemann Pick Type C Disease.
Volume: 22
Issue: 7
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Publication
23094108 | J:192177
First Author: Alam MS
Year: 2012
Journal: PLoS One
Title: Genomic expression analyses reveal lysosomal, innate immunity proteins, as disease correlates in murine models of a lysosomal storage disorder.
Volume: 7
Issue: 10
Pages: e48273
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Publication
26707209 | J:231336
First Author: Deutsch G
Year: 2016
Journal: Gene
Title: Extensive macrophage accumulation in young and old Niemann-Pick C1 model mice involves the alternative, M2, activation pathway and inhibition of macrophage apoptosis.
Volume: 578
Issue: 2
Pages: 242-50
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Publication
31485950 | J:293629
First Author: Dragotto J
Year: 2019
Journal: J Appl Genet
Title: Decreased neural stem cell proliferation and olfaction in mouse models of Niemann-Pick C1 disease and the response to hydroxypropyl-β-cyclodextrin.
Volume: 60
Issue: 3-4
Pages: 357-365
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Publication
25979674 | J:224934
First Author: Jelinek D
Year: 2015
Journal: Gene
Title: The C57BL/6J Niemann-Pick C1 mouse model with decreased gene dosage is susceptible to increased weight gain when fed a high-fat diet: Confirmation of a gene-diet interaction.
Volume: 568
Issue: 1
Pages: 112-3
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Publication
24488491 | J:211208
First Author: Alam MS
Year: 2014
Journal: J Biol Chem
Title: Plasma signature of neurological disease in the monogenetic disorder Niemann-Pick Type C.
Volume: 289
Issue: 12
Pages: 8051-66
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Publication
15353235 | J:92532
First Author: Ohara S
Year: 2004
Journal: Brain Res
Title: Degeneration of cholecystokinin-immunoreactive afferents to the VPL thalamus in a mouse model of Niemann-Pick disease type C.
Volume: 1022
Issue: 1-2
Pages: 244-6
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Publication
9211850 | J:41469
First Author: Loftus SK
Year: 1997
Journal: Science
Title: Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene.
Volume: 277
Issue: 5323
Pages: 232-5
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Publication
31141688 | J:278830
First Author: Vivas O
Year: 2019
Journal: Cell Rep
Title: Niemann-Pick Type C Disease Reveals a Link between Lysosomal Cholesterol and PtdIns(4,5)P2 That Regulates Neuronal Excitability.
Volume: 27
Issue: 9
Pages: 2636-2648.e4
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Publication
20167265 | J:161496
First Author: Xu S
Year: 2010
Journal: Neuroscience
Title: Defects of synaptic vesicle turnover at excitatory and inhibitory synapses in Niemann-Pick C1-deficient neurons.
Volume: 167
Issue: 3
Pages: 608-20
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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
22325094 | J:181851
 
First Author: Avchalumov Y
Year: 2012
Journal: Brain Res
Title: Increased excitability and compromised long-term potentiation in the neocortex of NPC1(-/-) mice.
Volume: 1444
Pages: 20-6
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Publication
19883762 | J:158305
First Author: Claudepierre T
Year: 2010
Journal: Mol Cell Neurosci
Title: Lack of Niemann-Pick type C1 induces age-related degeneration in the mouse retina.
Volume: 43
Issue: 1
Pages: 164-76
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Publication
15644330 | J:98011
First Author: Yu W
Year: 2005
Journal: J Biol Chem
Title: Altered cholesterol metabolism in Niemann-Pick type C1 mouse brains affects mitochondrial function.
Volume: 280
Issue: 12
Pages: 11731-9
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Publication
28542381 | J:246009
First Author: Totenhagen JW
Year: 2017
Journal: PLoS One
Title: Quantitative magnetic resonance imaging of brain atrophy in a mouse model of Niemann-Pick type C disease.
Volume: 12
Issue: 5
Pages: e0178179
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Publication
31601621 | J:282225
First Author: Tiscione SA
Year: 2019
Journal: J Cell Biol
Title: Disease-associated mutations in Niemann-Pick type C1 alter ER calcium signaling and neuronal plasticity.
Volume: 218
Issue: 12
Pages: 4141-4156
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Publication
21220512 | J:167841
First Author: Du X
Year: 2011
Journal: J Cell Biol
Title: A role for oxysterol-binding protein-related protein 5 in endosomal cholesterol trafficking.
Volume: 192
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