A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele.
about
Fostering collaborative research for rare genetic disease: the example of niemann-pick type C diseaseEfficacy and ototoxicity of different cyclodextrins in Niemann-Pick C diseaseHeat shock protein-based therapy as a potential candidate for treating the sphingolipidoses.X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalitiesGenetic and pharmacological evidence implicates cathepsins in Niemann-Pick C cerebellar degeneration.New murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease.Histone deacetylase inhibitors correct the cholesterol storage defect in most Niemann-Pick C1 mutant cells.Modeling Niemann Pick type C1 using human embryonic and induced pluripotent stem cells.Lysosome and endoplasmic reticulum quality control pathways in Niemann-Pick type C disease.Role of STARD4 and NPC1 in intracellular sterol transport.Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells.Quantitative Analysis of the Proteome Response to the Histone Deacetylase Inhibitor (HDACi) Vorinostat in Niemann-Pick Type C1 disease.Glucocerebrosidase haploinsufficiency in A53T α-synuclein mice impacts disease onset and course.Fourier Transform Infrared Microscopy Enables Guidance of Automated Mass Spectrometry Imaging to Predefined Tissue Morphologies.Acid Ceramidase Deficiency in Mice Results in a Broad Range of Central Nervous System Abnormalities.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.Coordinate regulation of mutant NPC1 degradation by selective ER autophagy and MARCH6-dependent ERAD
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P2860
A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
A murine Niemann-Pick C1 I1061 ...... revalent human disease allele.
@ast
A murine Niemann-Pick C1 I1061 ...... revalent human disease allele.
@en
type
label
A murine Niemann-Pick C1 I1061 ...... revalent human disease allele.
@ast
A murine Niemann-Pick C1 I1061 ...... revalent human disease allele.
@en
prefLabel
A murine Niemann-Pick C1 I1061 ...... revalent human disease allele.
@ast
A murine Niemann-Pick C1 I1061 ...... revalent human disease allele.
@en
P2093
P2860
P50
P1476
A murine Niemann-Pick C1 I1061 ...... revalent human disease allele.
@en
P2093
Andrew P Lieberman
Anita Chacko
Brett Tortelli
Daniel S Ory
Hideji Fujiwara
Jean E Schaffer
Jessie Zhang
Maria Praggastis
Nina H Pipalia
Steven U Walkley
P2860
P304
P356
10.1523/JNEUROSCI.4173-14.2015
P407
P577
2015-05-01T00:00:00Z