Immune dysfunction in Niemann-Pick disease type C.

scientific article published on 6 May 2015

Immune dysfunction in Niemann-Pick disease type C. is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

External links are
P356DOI10.1111/JNC.13138
P8608Fatcat IDrelease_vinm43jacbd2dc62ctqpba5y4i
P932PMC publication ID4833189
P698PubMed publication ID25946402

P50authorFrances PlattQ53912631
Ian Martin WilliamsQ79340846
Alexandria ColacoQ91213143
Anneliese O SpeakQ46442616
P2093author name stringNick Platt
David A Smith
James Gray
Kerri-Lee Wallom
P2860cites workNiemann-Pick disease type CQ21202883
Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotypeQ24534213
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Clarifying lysosomal storage diseasesQ24620532
Rethinking inflammation: neural circuits in the regulation of immunityQ26998822
Genetic dissection of a cell-autonomous neurodegenerative disorder: lessons learned from mouse models of Niemann-Pick disease type CQ27006043
Transmembrane molecular pump activity of Niemann-Pick C1 proteinQ28140887
Cytokines and acute neurodegenerationQ28190084
The biology of NKT cellsQ28277482
Cyclodextrin induces calcium-dependent lysosomal exocytosisQ28476365
Loss of Niemann-Pick C1 or C2 protein results in similar biochemical changes suggesting that these proteins function in a common lysosomal pathwayQ28476678
NKT cells derive from double-positive thymocytes that are positively selected by CD1dQ28508188
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 miceQ62401747
Systemic inflammation switches the inflammatory cytokine profile in CNS Wallerian degenerationQ80647373
CD1d1 mutant mice are deficient in natural T cells that promptly produce IL-4Q28594577
Innate or adaptive immunity? The example of natural killer cellsQ29615106
How dying cells alert the immune system to dangerQ29615501
Lymphocyte homing and homeostasisQ29619924
Microglial physiology: unique stimuli, specialized responsesQ29620417
Microglia as mediators of inflammatory and degenerative diseasesQ33593415
Adaptations of energy metabolism associated with increased levels of mitochondrial cholesterol in Niemann-Pick type C1-deficient cellsQ33718519
Stress, inflammation, and defense of homeostasisQ33724560
Common and uncommon pathogenic cascades in lysosomal storage diseasesQ33966917
Invariant natural killer T cells: an innate activation scheme linked to diverse effector functionsQ34323476
Signals from the lysosome: a control centre for cellular clearance and energy metabolismQ34340780
Astrocyte activation and reactive gliosisQ34413317
Gaucher disease: pathological mechanisms and modern managementQ34556549
Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calciumQ34866369
PKC activation in Niemann pick C1 cells restores subcellular cholesterol transportQ34974271
The impact of systemic infection on the progression of neurodegenerative disease.Q35058498
Sphingolipid metabolites in inflammatory diseaseQ35061720
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data setsQ35575793
The cell biology of lysosomal storage disordersQ35825859
Feline Niemann-Pick disease type CQ35834135
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 diseasesQ36227994
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 insightQ36353769
Early glial activation, synaptic changes and axonal pathology in the thalamocortical system of Niemann-Pick type C1 miceQ36852911
Evolutionary struggles between NK cells and virusesQ36976220
Astrocyte-only Npc1 reduces neuronal cholesterol and triples life span of Npc1-/- miceQ37080277
CD1d presentation of glycolipidsQ37187358
Microglial clearance function in health and diseaseQ37222916
Lysosomal disorders: from storage to cellular damageQ37359176
The multiple roles of the innate immune system in the regulation of apoptosis and inflammation in the brainQ37395741
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 disordersQ37739318
Niemann‐Pick type C disease: molecular mechanisms and potential therapeutic approachesQ37784257
The cellular pathology of lysosomal diseasesQ37944549
Molecular mechanisms of endolysosomal Ca2+ signalling in health and diseaseQ37944859
Sphingosine-1-phosphate and lymphocyte egress from lymphoid organsQ37965743
Sphingolipid lysosomal storage disordersQ38217766
Endosomal lipid accumulation in NPC1 leads to inhibition of PKC, hypophosphorylation of vimentin and Rab9 entrapmentQ39953744
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 networkQ40930186
Lipid storage disorders block lysosomal trafficking by inhibiting a TRP channel and lysosomal calcium releaseQ41822869
Free sphingoid bases in tissues from patients with type C Niemann-Pick disease and other lysosomal storage disordersQ42285999
NAADP activates two-pore channels on T cell cytolytic granules to stimulate exocytosis and killingQ42418448
Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterationsQ43692244
Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosisQ44342099
Postnatal development of inflammation in a murine model of Niemann-Pick type C disease: immunohistochemical observations of microglia and astrogliaQ44760146
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 receptorQ46927225
Murine Model of Niemann-Pick C Disease: Mutation in a Cholesterol Homeostasis GeneQ48047362
Npc1 deficiency in the C57BL/6J genetic background enhances Niemann-Pick disease type C spleen pathology.Q48904695
P275copyright licenseCreative Commons AttributionQ6905323
P6216copyright statuscopyrightedQ50423863
P407language of work or nameEnglishQ1860
P921main subjectNiemann-Pick diseaseQ1419931
P1104number of pages7
P304page(s)74-80
P577publication date2015-06-04
P1433published inJournal of NeurochemistryQ6295643
P1476titleImmune dysfunction in Niemann-Pick disease type C
P478volume136 Suppl 1

Reverse relations

cites work (P2860)
Q93083648A therapy with miglustat, 2-hydroxypropyl-ß-cyclodextrin and allopregnanolone restores splenic cholesterol homeostasis in Niemann-pick disease type C1
Q37292836Autophagosome-lysosome fusion triggers a lysosomal response mediated by TLR9 and controlled by OCRL
Q89445765BACE1-cleavage of Sez6 and Sez6L is elevated in Niemann-Pick type C disease mouse brains
Q57120065Cholesterol signaling in single cells: lessons from STAR and sm-FISH
Q91933432Dietary plant stanol ester supplementation reduces peripheral symptoms in a mouse model of Niemann-Pick type C1 disease
Q38962140Emerging pathways driving early synaptic pathology in Alzheimer's disease
Q42803814FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann-Pick type C mutant fibroblasts
Q59806971Gadolinium Chloride Rescues Niemann⁻Pick Type C Liver Damage
Q37099349Intraneuronal aggregation of the β-CTF fragment of APP (C99) induces Aβ-independent lysosomal-autophagic pathology.
Q64103898Oxidized low-density lipoprotein (oxLDL) supports Mycobacterium tuberculosis survival in macrophages by inducing lysosomal dysfunction
Q92715189Prevalence of antibodies to ganglioside and Hep 2 in Gaucher, Niemann - Pick type C and Sanfilippo diseases
Q60629668Psychiatric and Cognitive Symptoms Associated with Niemann-Pick Type C Disease: Neurobiology and Management
Q90723511Retinal axonal degeneration in Niemann-Pick type C disease
Q50084571The extending spectrum of NPC1-related human disorders: from Niemann-Pick C1 Disease to obesity
Q60311176The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase

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