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niemann-pick type c

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https://www.readbyqxmd.com/read/29227331/unravelling-new-pathways-of-sterol-metabolism-lessons-learned-from-in-born-errors-and-cancer
#1
Yuqin Wang, William J Griffiths
PURPOSE OF REVIEW: To update researchers of recently discovered metabolites of cholesterol and of its precursors and to suggest relevant metabolic pathways. RECENT FINDINGS: Patients suffering from inborn errors of sterol biosynthesis, transport and metabolism display unusual metabolic pathways, which may be major routes in the diseased state but minor in the healthy individual. Although quantitatively minor, these pathways may still be important in healthy individuals...
December 11, 2017: Current Opinion in Clinical Nutrition and Metabolic Care
https://www.readbyqxmd.com/read/29204109/intracellular-cholesterol-trafficking-and-impact-in-neurodegeneration
#2
REVIEW
Fabian Arenas, Carmen Garcia-Ruiz, Jose C Fernandez-Checa
Cholesterol is a critical component of membrane bilayers where it plays key structural and functional roles by regulating the activity of diverse signaling platforms and pathways. Particularly enriched in brain, cholesterol homeostasis in this organ is singular with respect to other tissues and exhibits a heterogeneous regulation in distinct brain cell populations. Due to the key role of cholesterol in brain physiology and function, alterations in cholesterol homeostasis and levels have been linked to brain diseases and neurodegeneration...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29197565/molecular-and-biochemical-biomarkers-for-diagnosis-and-therapy-monitorization-of-niemann-pick-type-c-patients
#3
Tatiane Grazieli Hammerschmidt, Graziela de Oliveira Schmitt Ribas, Maria Luiza Saraiva-Pereira, Márcia Polese Bonatto, Rejane Gus Kessler, Fernanda Timm Seabra Souza, Franciele Trapp, Kristiane Michelin-Tirelli, Maira Graeff Burin, Roberto Giugliani, Carmen Regla Vargas
BACKGROUND: Niemann-Pick type C (NP-C), one of 50 inherited lysosomal storage disorders, is caused by NPC protein impairment that leads to unesterified cholesterol accumulation in late endosomal/lysosomal compartments. The clinical manifestations of NP-C include hepatosplenomegaly, neurological and psychiatric symptoms. Current diagnosis for NP-C is based on observation of the accumulated cholesterol in fibroblasts of affected individuals, using an invasive and time expensive test, called Filipin staining...
November 29, 2017: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/29191430/oculomotor-abnormalities-in-children-with-niemann-pick-type-c
#4
James Blundell, Steven Frisson, Anupam Chakrapani, Paul Gissen, Chris Hendriksz, Suresh Vijay, Andrew Olson
Niemann-Pick type C (NP-C) is a rare recessive disorder associated with progressive supranuclear gaze palsy. Degeneration occurs initially for vertical saccades and later for horizontal saccades. There are studies of oculomotor degeneration in adult NP-C patients [1, 2] but no comparable studies in children. We used high-resolution video-based eye tracking to record monocular vertical and horizontal eye movements in 2 neurological NP-C patients (children with clinically observable oculomotor abnormalities) and 3 pre-neurological NP-C patients (children without clinically observable oculomotor abnormalities)...
November 16, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29189433/transintestinal-cholesterol-excretion-in-humans
#5
Laurens F Reeskamp, Emma C E Meessen, Albert K Groen
PURPOSE OF REVIEW: To discuss recent insights into the measurement and cellular basis of transintestinal cholesterol excretion (TICE) in humans and to explore TICE as a therapeutic target for increasing reverse cholesterol transport. RECENT FINDINGS: TICE is the net effect of cholesterol excretion by the enterocyte into the intestinal lumen and is the balance between input and output fluxes through the enterocytes. These fluxes are: cholesterol excretion into the intestinal lumen mainly via ATP-binding cassette (ABC) G5/8, cholesterol absorption from the intestine by Niemann-Pick C1 like protein 1, the uptake of plasma lipoproteins by enterocytes at the basolateral membrane, and the excretion of cholesterol in chylomicrons into the lymph...
November 16, 2017: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/29162837/l-leucine-and-spns1-coordinately-ameliorate-dysfunction-of-autophagy-in-mouse-and-human-niemann-pick-type-c-disease
#6
Hiroko Yanagisawa, Tomohiro Ishii, Kentaro Endo, Emiko Kawakami, Kazuaki Nagao, Toshiyuki Miyashita, Keiko Akiyama, Kazuhiko Watabe, Masaaki Komatsu, Daisuke Yamamoto, Yoshikatsu Eto
Lysosomal storage disorders are characterized by progressive accumulation of undigested macromolecules within the cell due to lysosomal dysfunction. 573C10 is a Schwann cell line derived from a mouse model of Niemann-Pick type C disease-1, NPC (-/-). Under serum-starved conditions, NPC (-/-) cells manifested impaired autophagy accompanied by an increase in the amount of p62 and lysosome enlargement. Addition of L-leucine to serum-starved NPC (-/-) cells ameliorated the enlargement of lysosomes and the p62 accumulation...
November 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29156730/generation-of-patient-specific-human-neural-stem-cells-from-niemann-pick-disease-type-c-patient-derived-fibroblasts
#7
Eun-Ah Sung, Kyung-Rok Yu, Ji-Hee Shin, Yoojin Seo, Hyung-Sik Kim, Myung Guen Koog, Insung Kang, Jae-Jun Kim, Byung-Chul Lee, Tae-Hoon Shin, Jin Young Lee, Seunghee Lee, Tae-Wook Kang, Soon Won Choi, Kyung-Sun Kang
Niemann-Pick disease type C (NPC) is a neurodegenerative and lysosomal lipid storage disorder, characterized by the abnormal accumulation of unesterified cholesterol and glycolipids, which is caused by mutations in the NPC1 genes. Here, we report the generation of human induced neural stem cells from NPC patient-derived fibroblasts (NPC-iNSCs) using only two reprogramming factors SOX2 and HMGA2 without going through the pluripotent state. NPC-iNSCs were stably expandable and differentiated into neurons, astrocytes, and oligodendrocytes...
October 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/29138063/polyrotaxane-based-systemic-delivery-of-%C3%AE-cyclodextrins-for-potentiating-therapeutic-efficacy-in-a-mouse-model-of-niemann-pick-type-c-disease
#8
Atsushi Tamura, Nobuhiko Yui
Niemann-Pick type C (NPC) disease is a fatal metabolic disorder characterized by the lysosomal accumulation of cholesterol. Although 2-hydroxypropyl β-cyclodextrin (HP-β-CD) promotes the excretion of cholesterol and prolongs the life span in animal models of NPC disease, it requires extremely high dose. We developed acid-labile β-CD-based polyrotaxanes (PRXs) comprising multiple β-CDs threaded along a polymer chain capped with acid-cleavable stopper molecules for potentiating therapeutic efficacy of β-CD in NPC disease...
November 11, 2017: Journal of Controlled Release: Official Journal of the Controlled Release Society
https://www.readbyqxmd.com/read/29119141/case-report-ursodeoxycholic-acid-treatment-in-niemann-pick-disease-type-c-clinical-experience-in-four-cases
#9
William R H Evans, Elena-Raluca Nicoli, Raymond Y Wang, Nina Movsesyan, Frances M Platt
In this case series, we demonstrate that Ursodeoxycholic acid (UDCA) improves liver dysfunction in Niemann-Pick type C (NPC) and may restore a suppressed cytochrome p450 system. NPC disease is a progressive neurodegenerative lysosomal storage disease caused by mutations in either the NPC1 or NPC2 genes. Liver disease is a common feature presenting either acutely as cholestatic jaundice in the neonatal period, or in later life as elevated liver enzymes indicative of liver dysfunction. Recently, an imbalance in bile acid synthesis in a mouse model of NPC disease was linked to suppression of the P450 detoxification system and was corrected by UDCA treatment...
2017: Wellcome Open Research
https://www.readbyqxmd.com/read/29100954/newborn-presentation-of-niemann-pick-disease-type-c-difficulties-and-limitations-of-diagnostic-methods
#10
Patryk Lipiński, Irena Jankowska, Agnieszka Ługowska, Małgorzata Musielak, Maciej Pronicki, Anna Tylki-Szymańska
No abstract text is available yet for this article.
October 12, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/29079454/the-adenosine-a2a-receptor-agonist-t1-11-ameliorates-neurovisceral-symptoms-and-extends-the-lifespan-of-a-mouse-model-of-niemann-pick-type-c-disease
#11
Antonella Ferrante, Antonella Pezzola, Andrea Matteucci, Antonella Di Biase, Lucilla Attorri, Monica Armida, Alberto Martire, Yijuang Chern, Patrizia Popoli
Niemann-Pick C is a fatal neurovisceral disorder caused, in 95% of cases, by mutation of NPC1 gene. Therapeutic options are extremely limited and new "druggable" targets are highly warranted. We previously demonstrated that the stimulation of the adenosine A2A receptor (A2AR) normalized the pathological phenotype of cellular models of NPC1. Since the validation of A2ARs as a therapeutic target for NPC1 can be obtained only conducting studies in in vivo models of the disease, in the present paper, the effects of two agonists of A2ARs were evaluated in the mouse model Balb/c Npc1(nih), hereafter indicated as NPC1-/-...
October 25, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/29074317/alteration-of-cortical-excitability-and-its-modulation-by-miglustat-in-niemann-pick-disease-type-c
#12
Shady Safwat Hassan, Carlos Trenado, Saskia Elben, Alfons Schnitzler, Stefan Jun Groiss
Niemann-Pick type C (NP-C) is a rare, neurodegenerative, lysosomal storage disease. Cortical excitability using different transcranial magnetic stimulation (TMS) protocols together with clinical and neuropsychological testing was longitudinally assessed in a patient with NP-C. Cerebellar inhibition, a measure for the integrity of the cerebello-thalamo-cortical network, was impaired. Short-latency afferent inhibition, a measure for cholinergic transmission, and cognitive functions were also impaired and improved under Miglustat treatment...
October 23, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29065835/hydroxypropyl-%C3%AE-cyclodextrin-formulated-in-nasal-chitosan-microspheres-as-candidate-therapeutic-agent-in-alzheimer-s-disease
#13
Giovanna Rassu, Elisabetta Gavini, Antonio Carta, Antonella Obinu, Elena Piera Porcu, Paolo Giunchedi
Hydroxypropyl-β-cyclodextrin (HP-CD) is a hydroxyalkyl derivative of native β-cyclodextrin, cyclic oligosaccharide able to form inclusion complexes with many drugs and biomolecules [1]. Cyclodextrins have a possible neuroprotective effect due to their capability to extract and deplete cholesterol from cell membranes [1]. HP-CD is classified as an excipient (cyclodextrins are in fact widely used to improve solubility of poorly water soluble drugs) and it is not been FDA-approved as therapeutic agent. However HP-CD received the "orphan drug designation" in the United States and Europe because it is employed in individual compassionate use for patients suffering from Niemann-Pick type C...
October 19, 2017: Current Drug Delivery
https://www.readbyqxmd.com/read/29062912/differential-response-of-the-liver-to-bile-acid-treatment-in-a-mouse-model-of-niemann-pick-disease-type-c
#14
Elena-Raluca Nicoli, David Smith, Lauren Morris, Frances M Platt
Niemann-Pick disease type C (NPC) disease is a neurodegenerative lysosomal storage disease caused by mutations in the NPC1 or NPC2 genes. Liver disease is also a common feature of NPC that can present as cholestatic jaundice in the neonatal period. Liver enzymes can remain elevated above the normal range in some patients as they age. We recently reported suppression of the P450 detoxification system in a mouse model of NPC disease and in post-mortem liver from NPC patients. As bile acids regulate the P450 system, we tested bile acid treatment using ursodeoxycholic acid (UDCA; 3α, 7β-dihydroxy-5β-cholanic acid), a hydrophilic bile acid, which is used to treat several cholestatic disorders...
2017: Wellcome Open Research
https://www.readbyqxmd.com/read/29058287/aberrant-activation-of-cdc2-cyclin-b1-is-involved-in-initiation-of-cytoskeletal-pathology-in-murine-niemann-pick-disease-type-c
#15
Li Ba, Zhi-Jun Li, Bi-Tao Bu, Wei Wang, Min Zhang
Niemann-Pick disease type C (NPC) is a fatal, neurovisceral lipid storage disease, neuropathologically characterized by cytoplasmic sequestration of glycolipids in neurons, progressive neuronal loss, neurofibrillary tangles (NFTs) formation, and axonal spheroids (AS). Cytoskeletal pathology including accumulation of hyperphosphorylated cytoskeletal proteins is a neuropathological hallmark of the mouse model of NPC (npc mice). With a goal of elucidating the mechanisms underlying the lesion formation, we investigated the temporal and spatial characteristics of cytoskeletal lesions and the roles of cdc2, cdk4, and cdk5 in lesion formation in young npc mice...
October 2017: Journal of Huazhong University of Science and Technology. Medical Sciences
https://www.readbyqxmd.com/read/29052144/the-effects-of-extracellular-serum-concentration-on-app-processing-in-npc1-deficient-app-overexpressing-n2a-cells
#16
M Maulik, D Vergote, G Phukan, J Chung, G Thinakaran, S Kar
Amyloid precursor protein (APP) is cleaved by a set of proteases including α-/β-/γ- and recently identified η-secretases, generating C-terminal fragments (CTFs) of varying lengths and amyloid β (Aβ) peptides, which are considered to play a pivotal role in Alzheimer's disease (AD) pathogenesis. Cellular cholesterol content/distribution can regulate the production/clearance of APP metabolites and hence modify AD pathology. To determine the functional relation between endosomal-lysosomal (EL) cholesterol sequestration and APP metabolism, we used our recently developed mouse N2a-ANPC cells that overexpress Swedish mutant human APP in the absence of cholesterol-trafficking Niemann-Pick type C1 (Npc1) protein...
October 19, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/29047377/cognitive-impairment-profile-in-adult-patients-with-niemann-pick-type-c-disease
#17
Camille Heitz, Stéphane Epelbaum, Yann Nadjar
BACKGROUND: Cognitive impairment is one of the core symptoms of Niemann Pick type C (NPC) disease, but few data concerning the neuropsychological profile of NPC patients are available. The aim of our study was to characterize cognitive impairments in NPC disease and to assess the evolution of these symptoms and the impact of miglustat on cognitive follow-up. METHODS: We conducted a retrospective study of 21 adult patients diagnosed with NPC disease. Neuropsychological data (global cognitive efficiency, language, attention, executive functions, praxis, and visuoconstructive functions tests) were retrieved to describe the cognitive profile of patients...
October 18, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29046459/hepatitis-c-virus-replication-depends-on-endosomal-cholesterol-homeostasis
#18
Ina Karen Stoeck, Ji-Young Lee, Keisuke Tabata, Inés Romero-Brey, David Paul, Philipp Schult, Volker Lohmann, Lars Kaderali, Ralf Bartenschlager
Similar to other positive-strand RNA viruses, hepatitis C virus (HCV) causes massive rearrangements of intracellular membranes, resulting in a membranous web (MW) composed of predominantly double membrane vesicles (DMVs), the presumed sites of RNA replication. DMVs are enriched for cholesterol, but mechanistic details on the source and recruitment of cholesterol to the viral replication organelle are only partially known. Here we focused on selected lipid transfer proteins implicated in direct lipid transfer at various endoplasmic reticulum (ER) - membrane contact sites...
October 18, 2017: Journal of Virology
https://www.readbyqxmd.com/read/29032655/microglial-involvement-in-the-development-of-olfactory-dysfunction
#19
REVIEW
Yoojin Seo, Hyung-Sik Kim, Kyung-Sun Kang
Olfaction is one of the oldest and important senses for life. Olfactory impairment is the most common clinical manifestation among elderly, and its prevalence is sharply increased with aging. Importantly, growing evidence has shown that olfactory dysfunction is the first sign of neurodegeneration, indicating the importance of olfactory assessment as an early diagnostic marker for the detection of neurological disorders. In this review, we described the nature of olfactory dysfunction and the advantage of animal models in olfaction study with brief introduction of olfactory behavior tests widely used in this field...
October 13, 2017: Journal of Veterinary Science
https://www.readbyqxmd.com/read/28988886/the-ceramide-activated-protein-phosphatase-sit4-impairs-sphingolipid-dynamics-mitochondrial-function-and-lifespan-in-a-yeast-model-of-niemann-pick-type-c1
#20
Rita Vilaça, Ivo Barros, Nabil Matmati, Elísio Silva, Telma Martins, Vítor Teixeira, Yusuf A Hannun, Vítor Costa
The Niemann-Pick type C is a rare neurodegenerative disease that results from loss-of-function point mutations in NPC1 or NPC2, which affect the homeostasis of sphingolipids and sterols in human cells. We have previously shown that yeast lacking Ncr1, the orthologue of human NPC1 protein, display a premature ageing phenotype and higher sensitivity to oxidative stress associated with mitochondrial dysfunctions and accumulation of long chain bases. In this study, a lipidomic analysis revealed specific changes in the levels of ceramide species in ncr1Δ cells, including decreases in dihydroceramides and increases in phytoceramides...
October 6, 2017: Biochimica et Biophysica Acta
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