review article | Q7318358 |
scholarly article | Q13442814 |
P356 | DOI | 10.1111/JNC.13138 |
P8608 | Fatcat ID | release_vinm43jacbd2dc62ctqpba5y4i |
P932 | PMC publication ID | 4833189 |
P698 | PubMed publication ID | 25946402 |
P50 | author | Frances Platt | Q53912631 |
Ian Martin Williams | Q79340846 | ||
Alexandria Colaco | Q91213143 | ||
Anneliese O Speak | Q46442616 | ||
P2093 | author name string | Nick Platt | |
David A Smith | |||
James Gray | |||
Kerri-Lee Wallom | |||
P2860 | cites work | Niemann-Pick disease type C | Q21202883 |
Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype | Q24534213 | ||
The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunction | Q24603159 | ||
Clarifying lysosomal storage diseases | Q24620532 | ||
Rethinking inflammation: neural circuits in the regulation of immunity | Q26998822 | ||
Genetic dissection of a cell-autonomous neurodegenerative disorder: lessons learned from mouse models of Niemann-Pick disease type C | Q27006043 | ||
Transmembrane molecular pump activity of Niemann-Pick C1 protein | Q28140887 | ||
Cytokines and acute neurodegeneration | Q28190084 | ||
The biology of NKT cells | Q28277482 | ||
Cyclodextrin induces calcium-dependent lysosomal exocytosis | Q28476365 | ||
Loss of Niemann-Pick C1 or C2 protein results in similar biochemical changes suggesting that these proteins function in a common lysosomal pathway | Q28476678 | ||
NKT cells derive from double-positive thymocytes that are positively selected by CD1d | Q28508188 | ||
Niemann-Pick C1 mice, a model of "juvenile Alzheimer's disease", with normal gene expression in neurons and fibrillary astrocytes show long term survival and delayed neurodegeneration. | Q50958641 | ||
Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease. | Q54566097 | ||
Improved neuroprotection using miglustat, curcumin and ibuprofen as a triple combination therapy in Niemann–Pick disease type C1 mice | Q62401747 | ||
Systemic inflammation switches the inflammatory cytokine profile in CNS Wallerian degeneration | Q80647373 | ||
CD1d1 mutant mice are deficient in natural T cells that promptly produce IL-4 | Q28594577 | ||
Innate or adaptive immunity? The example of natural killer cells | Q29615106 | ||
How dying cells alert the immune system to danger | Q29615501 | ||
Lymphocyte homing and homeostasis | Q29619924 | ||
Microglial physiology: unique stimuli, specialized responses | Q29620417 | ||
Microglia as mediators of inflammatory and degenerative diseases | Q33593415 | ||
Adaptations of energy metabolism associated with increased levels of mitochondrial cholesterol in Niemann-Pick type C1-deficient cells | Q33718519 | ||
Stress, inflammation, and defense of homeostasis | Q33724560 | ||
Common and uncommon pathogenic cascades in lysosomal storage diseases | Q33966917 | ||
Invariant natural killer T cells: an innate activation scheme linked to diverse effector functions | Q34323476 | ||
Signals from the lysosome: a control centre for cellular clearance and energy metabolism | Q34340780 | ||
Astrocyte activation and reactive gliosis | Q34413317 | ||
Gaucher disease: pathological mechanisms and modern management | Q34556549 | ||
Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium | Q34866369 | ||
PKC activation in Niemann pick C1 cells restores subcellular cholesterol transport | Q34974271 | ||
The impact of systemic infection on the progression of neurodegenerative disease. | Q35058498 | ||
Sphingolipid metabolites in inflammatory disease | Q35061720 | ||
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets | Q35575793 | ||
The cell biology of lysosomal storage disorders | Q35825859 | ||
Feline Niemann-Pick disease type C | Q35834135 | ||
Miglustat improves purkinje cell survival and alters microglial phenotype in feline Niemann-Pick disease type C. | Q35960437 | ||
Impaired selection of invariant natural killer T cells in diverse mouse models of glycosphingolipid lysosomal storage diseases | Q36227994 | ||
Invariant natural killer T cells are not affected by lysosomal storage in patients with Niemann-Pick disease type C. | Q36288508 | ||
Quantitative proteomic analysis of Niemann-Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insight | Q36353769 | ||
Early glial activation, synaptic changes and axonal pathology in the thalamocortical system of Niemann-Pick type C1 mice | Q36852911 | ||
Evolutionary struggles between NK cells and viruses | Q36976220 | ||
Astrocyte-only Npc1 reduces neuronal cholesterol and triples life span of Npc1-/- mice | Q37080277 | ||
CD1d presentation of glycolipids | Q37187358 | ||
Microglial clearance function in health and disease | Q37222916 | ||
Lysosomal disorders: from storage to cellular damage | Q37359176 | ||
The multiple roles of the innate immune system in the regulation of apoptosis and inflammation in the brain | Q37395741 | ||
Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1. | Q37424506 | ||
Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1. | Q37429710 | ||
Protective effects of microglia in multiple sclerosis. | Q37467153 | ||
Pathophysiology of neuropathic lysosomal storage disorders | Q37739318 | ||
Niemann‐Pick type C disease: molecular mechanisms and potential therapeutic approaches | Q37784257 | ||
The cellular pathology of lysosomal diseases | Q37944549 | ||
Molecular mechanisms of endolysosomal Ca2+ signalling in health and disease | Q37944859 | ||
Sphingosine-1-phosphate and lymphocyte egress from lymphoid organs | Q37965743 | ||
Sphingolipid lysosomal storage disorders | Q38217766 | ||
Endosomal lipid accumulation in NPC1 leads to inhibition of PKC, hypophosphorylation of vimentin and Rab9 entrapment | Q39953744 | ||
Distinct endosomal trafficking requirements for presentation of autoantigens and exogenous lipids by human CD1d molecules. | Q40137932 | ||
Niemann-Pick C1 is a late endosome-resident protein that transiently associates with lysosomes and the trans-Golgi network | Q40930186 | ||
Lipid storage disorders block lysosomal trafficking by inhibiting a TRP channel and lysosomal calcium release | Q41822869 | ||
Free sphingoid bases in tissues from patients with type C Niemann-Pick disease and other lysosomal storage disorders | Q42285999 | ||
NAADP activates two-pore channels on T cell cytolytic granules to stimulate exocytosis and killing | Q42418448 | ||
Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations | Q43692244 | ||
Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis | Q44342099 | ||
Postnatal development of inflammation in a murine model of Niemann-Pick type C disease: immunohistochemical observations of microglia and astroglia | Q44760146 | ||
Beneficial effects of anti-inflammatory therapy in a mouse model of Niemann-Pick disease type C1. | Q45919866 | ||
Natural killer cell trafficking in vivo requires a dedicated sphingosine 1-phosphate receptor | Q46927225 | ||
Murine Model of Niemann-Pick C Disease: Mutation in a Cholesterol Homeostasis Gene | Q48047362 | ||
Npc1 deficiency in the C57BL/6J genetic background enhances Niemann-Pick disease type C spleen pathology. | Q48904695 | ||
P275 | copyright license | Creative Commons Attribution | Q6905323 |
P6216 | copyright status | copyrighted | Q50423863 |
P407 | language of work or name | English | Q1860 |
P921 | main subject | Niemann-Pick disease | Q1419931 |
P1104 | number of pages | 7 | |
P304 | page(s) | 74-80 | |
P577 | publication date | 2015-06-04 | |
P1433 | published in | Journal of Neurochemistry | Q6295643 |
P1476 | title | Immune dysfunction in Niemann-Pick disease type C | |
P478 | volume | 136 Suppl 1 |
Q93083648 | A therapy with miglustat, 2-hydroxypropyl-ß-cyclodextrin and allopregnanolone restores splenic cholesterol homeostasis in Niemann-pick disease type C1 |
Q37292836 | Autophagosome-lysosome fusion triggers a lysosomal response mediated by TLR9 and controlled by OCRL |
Q89445765 | BACE1-cleavage of Sez6 and Sez6L is elevated in Niemann-Pick type C disease mouse brains |
Q57120065 | Cholesterol signaling in single cells: lessons from STAR and sm-FISH |
Q91933432 | Dietary plant stanol ester supplementation reduces peripheral symptoms in a mouse model of Niemann-Pick type C1 disease |
Q38962140 | Emerging pathways driving early synaptic pathology in Alzheimer's disease |
Q42803814 | FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann-Pick type C mutant fibroblasts |
Q59806971 | Gadolinium Chloride Rescues Niemann⁻Pick Type C Liver Damage |
Q37099349 | Intraneuronal aggregation of the β-CTF fragment of APP (C99) induces Aβ-independent lysosomal-autophagic pathology. |
Q64103898 | Oxidized low-density lipoprotein (oxLDL) supports Mycobacterium tuberculosis survival in macrophages by inducing lysosomal dysfunction |
Q92715189 | Prevalence of antibodies to ganglioside and Hep 2 in Gaucher, Niemann - Pick type C and Sanfilippo diseases |
Q60629668 | Psychiatric and Cognitive Symptoms Associated with Niemann-Pick Type C Disease: Neurobiology and Management |
Q90723511 | Retinal axonal degeneration in Niemann-Pick type C disease |
Q50084571 | The extending spectrum of NPC1-related human disorders: from Niemann-Pick C1 Disease to obesity |
Q60311176 | The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase |
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