A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations. - Test2 - elhamkhani - TriplyDB

A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations.

A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations.

http://www.wikidata.org/entity/Q30458199

about

Genetic dissection of a cell-autonomous neurodegenerative disorder: lessons learned from mouse models of Niemann-Pick disease type C Genomic expression analyses reveal lysosomal, innate immunity proteins, as disease correlates in murine models of a lysosomal storage disorder Developmental delay in motor skill acquisition in Niemann-Pick C1 mice reveals abnormal cerebellar morphogenesis.Gpnmb Is a Potential Marker for the Visceral Pathology in Niemann-Pick Type C Disease Extensive macrophage accumulation in young and old Niemann-Pick C1 model mice involves the alternative, M2, activation pathway and inhibition of macrophage apoptosis.Hearing loss is an early consequence of Npc1 gene deletion in the mouse model of Niemann-Pick disease, type C.Sex and exercise interact to alter the expression of anabolic androgenic steroid-induced anxiety-like behaviors in the mouse.New insights into behaviour using mouse ENU mutagenesis Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease.Niemann-Pick C disease and mobilization of lysosomal cholesterol by cyclodextrin Therapeutic potential of cyclodextrins in the treatment of Niemann-Pick type C disease.Hepatic entrapment of esterified cholesterol drives continual expansion of whole body sterol pool in lysosomal acid lipase-deficient mice Characterization of a spontaneous novel mutation in the NPC2 gene in a cat affected by Niemann Pick type C disease.Pulmonary abnormalities in animal models due to Niemann-Pick type C1 (NPC1) or C2 (NPC2) disease Practical murine hematopathology: a comparative review and implications for research.A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele.Quantitative magnetic resonance imaging of brain atrophy in a mouse model of Niemann-Pick type C disease.A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient's skin (1) H magnetic resonance spectroscopy of neurodegeneration in a mouse model of niemann-pick type C1 disease.Gene Therapy for the Treatment of Neurological Disorders: Metabolic Disorders.Ontogenic changes in lung cholesterol metabolism, lipid content, and histology in mice with Niemann-Pick type C disease.New murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease.Plasma signature of neurological disease in the monogenetic disorder Niemann-Pick Type C.Telocytes: a potential defender in the spleen of Npc1 mutant mice.Current controversies in Niemann-Pick C1 disease: steroids or gangliosides; neurons or neurons and glia.Treatment of Niemann--pick type C disease by histone deacetylase inhibitors.Complex lipid trafficking in Niemann-Pick disease type C.From mice to men: lessons from mutant ataxic mice.Modeling Niemann Pick type C1 using human embryonic and induced pluripotent stem cells.Acyl-coenzyme A:cholesterol acyltransferase 1 - significance of single-nucleotide polymorphism at residue 526 and the role of Pro347 near the fifth transmembrane domain.Circadian profiling in two mouse models of lysosomal storage disorders; Niemann Pick type-C and Sandhoff disease.Hepatic metabolic response to restricted copper intake in a Niemann-Pick C murine model.Normalization of Hepatic Homeostasis in the Npc1nmf164 Mouse Model of Niemann-Pick Type C Disease Treated with the Histone Deacetylase Inhibitor Vorinostat.The extending spectrum of NPC1-related human disorders: from Niemann-Pick C1 Disease to obesity.Tolerance of chronic HDACi treatment for neurological, visceral and lung Niemann-Pick Type C disease in mice.Linear Cyclodextrin Polymer Prodrugs as Novel Therapeutics for Niemann-Pick Type C1 Disorder.Modeling Niemann-Pick disease type C1 in zebrafish: a robust platform for screening of candidate therapeutic compounds

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P2860

A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations.

http://www.wikidata.org/entity/Q30458199

description

2011 nî lūn-bûn

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2011 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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name

A novel mouse model of Niemann ...... only observed human mutations.

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A novel mouse model of Niemann ...... only observed human mutations.

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type

label

A novel mouse model of Niemann ...... only observed human mutations.

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A novel mouse model of Niemann ...... only observed human mutations.

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prefLabel

A novel mouse model of Niemann ...... only observed human mutations.

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A novel mouse model of Niemann ...... only observed human mutations.

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Human Molecular Genetics

P1476

A novel mouse model of Niemann ...... monly observed human mutations

@en

P2093

Benjamin S Szwergold

http://www.w3.org/2001/XMLSchema#string

Bing Wang

http://www.w3.org/2001/XMLSchema#string

Brent T Harris

http://www.w3.org/2001/XMLSchema#string

Carlos A A Penatti

http://www.w3.org/2001/XMLSchema#string

Catherine C Chang

http://www.w3.org/2001/XMLSchema#string

Christine M Wooley

http://www.w3.org/2001/XMLSchema#string

David J Graber

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Donna M Porter

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Ivan A Borbon

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John W Totenhagen

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P2860

Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression

Niemann-Pick disease type C

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis

Impaired prepulse inhibition of acoustic and tactile startle response in patients with Huntington's disease.

2-hydroxypropyl-beta-cyclodextrin raises hearing threshold in normal cats and in cats with Niemann-Pick type C disease

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

Mutagenesis of the putative sterol-sensing domain of yeast Niemann Pick C-related protein reveals a primordial role in subcellular sphingolipid distribution.

Mouse genetic models for prepulse inhibition: an early review

Inbred strain differences in prepulse inhibition of the mouse startle response

Localization of the murine Niemann-Pick C1 protein to two distinct intracellular compartments

P304

730-750

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scholarly article

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10.1093/HMG/DDR505

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4

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P478

21

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Robert W Burgess

Maximillian A Rogers

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2011-11-02T00:00:00Z

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51765942

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22048958

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3263988

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