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https://www.readbyqxmd.com/read/29156730/generation-of-patient-specific-human-neural-stem-cells-from-niemann-pick-disease-type-c-patient-derived-fibroblasts
#1
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/29152458/lysosomal-storage-diseases
#2
REVIEW
Carlos R Ferreira, William A Gahl
Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the accumulation of the material meant for lysosomal degradation. Examples include glycogen in the case of Pompe disease, glycosaminoglycans in the case of the mucopolysaccharidoses, glycoproteins in the cases of the oligosaccharidoses, and sphingolipids in the cases of Niemann-Pick disease types A and B, Gaucher disease, Tay-Sachs disease, Krabbe disease, and metachromatic leukodystrophy...
May 25, 2017: Translational Science of Rare Diseases
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
#3
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/29135293/-from-the-hallervorden-spatz-eponym-to-the-molecular-terminology
#4
Ferenc Garzuly
INTRODUCTION AND AIM: A combination of Niemann-Pick- and Hallervorden-Spatz diseases led to the death of a 17-year-old boy in 1994. Genetic counseling necessitated further investigations in 2017. Meanwhile, the nomenclature of Hallervorden-Spatz disease has been abandoned. The author analyze the reasons for this change. METHOD: Professional activities of Hallervorden and Spatz during and after the Nazi euthanasia program are presented. Also, the scientific efforts that led to the discovery of the genetic background of the disease and ultimately to its new name are highlighted...
October 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/29129654/corrigendum-to-cause-of-death-in-patients-with-chronic-visceral-and-chronic-neurovisceral-acid-sphingomyelinase-deficiency-niemann-pick-disease-type-b-and-b-variant-literature-review-and-report-of-new-cases-mol-genet-metab-118-2016-206-213
#5
David Cassiman, Seymour Packman, Bruno Bembi, Hadhami Ben Turkia, Moeenaldeen Al-Sayed, Manuel Schiff, Jackie Imrie, Paulina Mabe, Tsutomu Takahashi, Karl Eugen Mengel, Roberto Giugliani, Gerald F Cox
No abstract text is available yet for this article.
November 9, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29119141/case-report-ursodeoxycholic-acid-treatment-in-niemann-pick-disease-type-c-clinical-experience-in-four-cases
#6
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
#7
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/29090525/hematopoietic-stem-cell-transplantation-in-niemann-pick-disease-type-b-monitored-by-chitotriosidase-activity
#8
Paola Quarello, Spada Marco, Porta Francesco, Vassallo Elena, Timeus Fabio, Fagioli Franca
Here, we report a patient with Niemann-Pick disease type B, with early severe onset of disease and pulmonary involvement, treated with hematopoietic stem cell transplant (HSCT) from a bone marrow matched unrelated donor. We confirm that HSCT is feasible and potentially beneficial for patients with severe phenotype. Noteworthy, we discussed the potential usefulness of the activity of peripheral chitotriosidase for the longitudinal evaluation of HSCT success and effectiveness.
November 1, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29084218/concerted-regulation-of-npc2-binding-to-endosomal-lysosomal-membranes-by-bis-monoacylglycero-phosphate-and-sphingomyelin
#9
Giray Enkavi, Heikki Mikkolainen, Burçin Güngör, Elina Ikonen, Ilpo Vattulainen
Niemann-Pick Protein C2 (npc2) is a small soluble protein critical for cholesterol transport within and from the lysosome and the late endosome. Intriguingly, npc2-mediated cholesterol transport has been shown to be modulated by lipids, yet the molecular mechanism of npc2-membrane interactions has remained elusive. Here, based on an extensive set of atomistic simulations and free energy calculations, we clarify the mechanism and energetics of npc2-membrane binding and characterize the roles of physiologically relevant key lipids associated with the binding process...
October 2017: PLoS Computational Biology
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
#10
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
#11
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
#12
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/29065825/2-hydroxypropyl-%C3%AE-cyclodextrins-and-the-blood-brain-barrier-considerations-for-niemann-pick-disease-type-c1
#13
Pericles Calias
The rare, chronic, autosomal-recessive lysosomal storage disease Niemann-Pick disease type C1 (NPC1) is characterized by progressively debilitating and ultimately fatal neurological manifestations. There is tremendous need for disease-modifying therapies that address NPC1 neurological pathophysiology, and passage through the blood-brain barrier represents an important consideration for novel NPC1 drugs. Animal investigations of 2-hydroxypropyl--cyclodextrins (HPCD) in NPC1 in mice demonstrated that HPCD does not cross the blood-brain barrier in significant amounts but suggested a potential for these complex oligosaccharides to moderately impact CNS manifestations when administered subcutaneously or intraperitoneally at very high doses; however, safety concerns regarding pulmonary toxicity were raised...
October 19, 2017: Current Pharmaceutical Design
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/29031163/ebola-virus-requires-phosphatidylinositol-3-5-bisphosphate-production-for-efficient-viral-entry
#20
Shirley Qiu, Anders Leung, Yuxia Bo, Robert A Kozak, Sai Priya Anand, Corina Warkentin, Fabiola D R Salambanga, Jennifer Cui, Gary Kobinger, Darwyn Kobasa, Marceline Côté
For entry, Ebola virus (EBOV) requires the interaction of its viral glycoprotein with the cellular protein Niemann-Pick C1 (NPC1) which resides in late endosomes and lysosomes. How EBOV is trafficked and delivered to NPC1 and whether this is positively regulated during entry remain unclear. Here, we show that the PIKfyve-ArPIKfyve-Sac3 cellular complex, which is involved in the metabolism of phosphatidylinositol (3,5) bisphosphate (PtdIns(3,5)P2), is critical for EBOV infection. Although the expression of all subunits of the complex was required for efficient entry, PIKfyve kinase activity was specifically critical for entry by all pathogenic filoviruses...
October 11, 2017: Virology
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