Niemann-Pick C protein
Deficiency of Niemann-Pick Type C-1 Protein Impairs Release of Human Immunodeficiency Virus Type 1 and Results in Gag Accumulation in Late Endosomal/Lysosomal Compartments
... NPC1 protein, and normal fibroblasts (GM03124, GM03123, and GM05659) were obtained from Coriell Repositories (Coriell Institute for Medical Research, Camden, ...
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Saccharomyces cerevisiae Npc2p Is a Functionally Conserved Homologue of the Human Niemann-Pick Disease Type C 2 Protein, hNPC2
... Analysis of npc2 ⌬ yeast cells. A deficiency in hNPC2 leads to an accumulation of lipids in endocytic compartments, suggesting that human NPC2 plays a role in lipid trafficking. This hypothesis is supported by recent ...
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Niemann Pick C1 Is Essential for Ebolavirus Replication and Pathogenesis In Vivo
... quently fixed with 10% formalin at 48 and 72 h postinfection. Infectivities of VSV pseudotypes in Vero cells were measured by manually counting enhanced green fluorescent protein (eGFP)-positive cells using ...
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Visualization of cholesterol deposits in lysosomes of Niemann-Pick type C fibroblasts using recombinant perfringolysin O
... brains of NPC mice. The authors showed that BCθ stained mainly “cholesterol-rich domains” inside the cells [27,28]. The probe entered the cell without prior permeabilization with detergents. Instead, it was shown that ...
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Glycine N-Methyltransferase Deficiency Affects Niemann-Pick Type C2 Protein Stability and Regulates Hepatic Cholesterol Homeostasis
... ings and coimmunoprecipitation assays elucidated that the C conserved region (81–105 amino acids) of NPC2 interacts with the carboxyl-terminal fragment (171–295 amino acids) of GNMT. Confocal microscopy ...
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Cognitive impairment profile in adult patients with Niemann pick type C disease
... In our study, storage in the episodic memory was pre- served in 61.5% of cases with an impaired free recall and a preserved total recall on the FCSRT. These results are interesting because NPC and Alzheimer’s disease ...
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Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease
... The discovery of cyclodextrin as therapy for NPC disease By the early 2000s, an improved understanding of NPC1 disease allowed scientists to focus more efforts on ra- tional therapeutic approaches, such as targeting ...
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Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C
... type C (NPC) disease is a lysosomal storage disorder characterized by the occurrence of visceral and neurological ...binding protein 43 (TDP-43) in both NPC mouse and in a human neuronal model of the ...
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Rab proteins mediate Golgi transport of caveola internalized glycosphingolipids and correct lipid trafficking in Niemann Pick C cells
... Rab protein required for transport between early and late endosomes and between late endosomes and ...Rab protein also blocked Golgi target- ing of BODIPY-LacCer (Figure 3a), suggesting transport along the ...
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Niemann-Pick disease type C
... for protein function. Two luminal domains may play a role in protein-protein interactions: a cysteine-rich loop with a ring-finger motif which harbors about 1/3 of the mutations described in patients ...
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Functional analysis of Niemann Pick disease type C family protein, NPC1a, in Drosophila melanogaster
... During embryonic gonad coalescence, primordial germ cells (PGCs) follow a carefully choreographed migratory route circumscribed by guidance signals towards somatic gonadal precursor cells (SGPs). In Drosophila ...
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Loss of amyloid precursor protein exacerbates early inflammation in Niemann-Pick disease type C
... in protein extraction buffer (PBS, ...interferon-gamma-induced protein 10 (IP-10/CXCL10), keratinocyte chemoattractant (KC/CXCL1), leukemia inhibi- tory factor (LIF), lipopolysaccharide-inducible CXC chemo- ...
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Complement is dispensable for neurodegeneration in Niemann-Pick disease type C
... C1q protein was not enriched in areas of neuron loss or high micro- glia activity such as the cerebellar cortex, but was in- stead concentrated in specific brain regions, for example, the deep cerebellar nuclei ...
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Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators
... NP-C manifestation and course appeared to vary consid- erably within our cohort (Figure 1, Figure 2). Several scoring systems have been developed to monitor disease progression in NP-C [10,13,17,23]. ...
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New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat
... Since NP-C is primarily a neurological disease, at least in patients whose symptoms develop in early childhood or later, any effective treatment for NP-C needs to be able to cross the blood–brain barrier in ...
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Curcumin inhibits cholesterol uptake in Caco-2 cells by down-regulation of NPC1L1 expression
... NPC1L1 is a crucial transporter for cholesterol uptake. Understanding the regulation of its expression is of importance in human health and disease. It is only recently that several studies showed that diet with low ...
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Evolution of structural neuroimaging biomarkers in a series of adult patients with Niemann-Pick type C under treatment
... Background: Niemann-Pick type C (NPC) disease is a lysosomal storage disorder characterized by a wide clinical spectrum and non-specific conventional magnetic resonance imaging (MRI) ...
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Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C
... While our imaging findings are of value in that they add to the relatively limited amount of published data from longitudinal imaging studies in paediatric NP-C patients, it is notable that there were no apparent ...
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Subcortical Volumetric Reductions in Adult Niemann Pick Disease Type C: A Cross Sectional Study
... Adults demonstrate a range of central nervous system symptoms, including ataxia, dystonia, vertical supranuclear ophthalmoplegia, cognitive impairment, and psychotic illness.2,3 Because [r] ...
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Longitudinal assessment of reflexive and volitional saccades in Niemann-Pick Type C disease during treatment with miglustat
... Parameters analysed were reflexive saccade gain and latency, asymptotic peak saccadic velocity, HSEM- α (the slope of the peak duration-amplitude regression line), antisaccade error perc[r] ...
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