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https://www.readbyqxmd.com/read/29783784/cyclodextrins-assessing-the-impact-of-cavity-size-occupancy-and-substitutions-on-cytotoxicity-and-cholesterol-homeostasis
#1
Lajos Szente, Ashutosh Singhal, Andras Domokos, Byeongwoon Song
Cyclodextrins (CDs) are cyclic oligosaccharides; the most common CDs contain six, seven, or eight glucose units called α-CDs, β-CDs, and γ-CDs, respectively. The use of CDs in biomedical research is increasing due to their ability to interact with membrane lipids as well as a wide variety of poorly water-soluble molecules. We assessed the impact of CD cavity size, occupancy, and substitutions on cytotoxicity and cholesterol homeostasis. The potency of CD-mediated cytotoxicity was in the order of β-CDs, α-CDs, and γ-CDs...
May 20, 2018: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/29764733/genetic-polymorphism-of-sterol-transporters-in-children-with-future-gallstones
#2
Markku J Nissinen, Niina Pitkänen, Piia Simonen, Helena Gylling, Jorma Viikari, Olli Raitakari, Terho Lehtimäki, Markus Juonala, Mikko P Pakarinen
BACKGROUND & AIMS: Gallstone disease is related to hypersecretion of cholesterol in bile, and low serum phytosterol levels. We examined how genetic polymorphisms of sterol transporters affect childhood cholesterol metabolism trait predicting adult gallstone disease. PATIENTS AND METHODS: In retrospective controlled study, we determined D19H polymorphism of ABCG8 gene, genetic variation at Niemann-Pick C1-like 1 (NPC1L1) gene locus (rs41279633, rs17655652, rs2072183, rs217434 and rs2073548), and serum cholesterol, noncholesterol sterols and lipids in children affected by gallstones decades later (n = 66) and controls (n = 126)...
April 26, 2018: Digestive and Liver Disease
https://www.readbyqxmd.com/read/29759592/ccdc115-cdg-a-new-rare-and-misleading-inherited-cause-of-liver-disease
#3
Muriel Girard, Aurélia Poujois, Monique Fabre, Florence Lacaille, Dominique Debray, Marlène Rio, François Fenaille, Sophie Cholet, Coralie Ruel, Elizabeth Caussé, Janick Selves, Laure Bridoux-Henno, France Woimant, Thierry Dupré, Sandrine Vuillaumier-Barrot, Nathalie Seta, Laurent Alric, Pascale de Lonlay, Arnaud Bruneel
Congenital disorders of glycosylation (CDG) linked to defects in Golgi apparatus homeostasis constitute an increasing part of these rare inherited diseases. Among them, COG-CDG, ATP6V0A2-CDG, TMEM199-CDG and CCDC115-CDG have been shown to disturb Golgi vesicular trafficking and/or lumen pH acidification. Here, we report 3 new unrelated cases of CCDC115-CDG with emphasis on diagnosis difficulties related to strong phenotypic similarities with mitochondriopathies, Niemann-Pick disease C and Wilson Disease. Indeed, while two individuals clinically presented with early and severe liver fibrosis and cirrhosis associated with neurological symptoms, the other one "only" showed isolated and late severe liver involvement...
May 9, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29753706/improvement-of-impaired-electrical-activity-in-npc1-mutant-cortical-neurons-upon-dhpg-stimulation-detected-by-micro-electrode-array
#4
Xiao Feng, Benjamin M Bader, Fan Yang, Monica Segura, Luise Schultz, Olaf H-U Schröder, Arndt Rolfs, Jiankai Luo
Niemann-Pick Type C1 (NPC1) disease is an autosomal recessive neurodegenerative disease characterized by an excessive accumulation of unesterified cholesterol in late endosomes/lysosomes. Patients with NPC1 disease show a series of symptoms in neuropathology, including a gradually increased loss of motor control and seizures. However, mechanism of the neurological manifestations in NPC1 disease is not fully understood yet. In this study, we utilized the micro-electrode array (MEA) to analyze the spontaneous extracellular electrical activity in cultivated cortical neurons of the NPC1 mutant (NPC1-/- ) mouse...
May 10, 2018: Brain Research
https://www.readbyqxmd.com/read/29725814/inhibition-of-mir-486-and-mir-92a-decreases-liver-and-plasma-cholesterol-levels-by-modulating-lipid-related-genes-in-hyperlipidemic-hamsters
#5
Loredan S Niculescu, Natalia Simionescu, Elena V Fuior, Camelia S Stancu, Mihaela G Carnuta, Madalina D Dulceanu, Mina Raileanu, Emanuel Dragan, Anca V Sima
In the present study we aimed to evaluate the potential of in vivo inhibition of miR-486 and miR-92a to reverse hyperlipidemia, then to identify and validate their lipid metabolism-related target genes. Male Golden-Syrian hamsters fed a hyperlipidemic (HL) diet (standard chow plus 3% cholesterol and 15% butter, 10 weeks) were injected subcutaneously with lock-nucleic acid inhibitors for either miR-486 or miR-92a. Lipids and miRNAs levels in liver and plasma, and hepatic expression of miRNAs target genes were assessed in all HL hamsters...
May 3, 2018: Molecular Biology Reports
https://www.readbyqxmd.com/read/29721961/early-endosome-morphology-in-health-and-disease
#6
Gulpreet Kaur, Aparna Lakkaraju
Early endosomes are organelles that receive macromolecules and solutes from the extracellular environment. The major function of early endosomes is to sort these cargos into recycling and degradative compartments of the cell. Degradation of the cargo involves maturation of early endosomes into late endosomes, which, after acquisition of hydrolytic enzymes, form lysosomes. Endosome maturation involves recruitment of specific proteins and lipids to the early endosomal membrane, which drives changes in endosome morphology...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29718288/the-pathogenesis-of-lysosomal-storage-disorders-beyond-the-engorgement-of-lysosomes-to-abnormal-development-and-neuroinflammation
#7
Maria Teresa Fiorenza, Enrico Moro, Robert P Erickson
There is growing evidence that the complex clinical manifestations of lysosomal storage diseases (LSDs) are not fully explained by the engorgement of the endosomal-autophagic-lysosomal system. In this review, we explore current knowledge of common pathogenetic mechanisms responsible for the early onset of tissue abnormalities of two LSDs, Mucopolysaccharidosis type II (MPSII) and Niemann-Pick type C (NPC) diseases. In particular, perturbations of the homeostasis of glycosaminoglycans (GAGs) and cholesterol (Chol) in MPSII and NPC diseases, respectively, affect key biological processes, including morphogen signaling...
April 28, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29709562/novel-cyclo-peptides-inhibit-ebola-pseudotyped-virus-entry-by-targeting-primed-gp-protein
#8
Quanjie Li, Ling Ma, Dongrong Yi, Han Wang, Jing Wang, Yongxin Zhang, Ying Guo, Xiaoyu Li, Jinming Zhou, Yi Shi, George F Gao, Shan Cen
Ebola virus (EBOV) causes fatal hemorrhagic fever with high death rates in human. Currently, there are no available clinically-approved prophylactic or therapeutic treatments. The recently solved crystal structure of cleavage-primed EBOV glycoprotein (GPcl) in complex with the C domain of endosomal protein Niemann-Pick C1 (NPC1) provides a new target for the development of EBOV entry inhibitors. In this work, a computational approach using docking and molecular dynamic simulations is carried out for the rational design of peptide inhibitors...
April 27, 2018: Antiviral Research
https://www.readbyqxmd.com/read/29704574/the-intersection-of-lysosomal-and-endoplasmic-reticulum-calcium-with-autophagy-defects-in-lysosomal-diseases
#9
REVIEW
Elaine A Liu, Andrew P Lieberman
The lysosomal storage disorders (LSDs) encompass a group of more than 50 inherited diseases characterized by the accumulation of lysosomal substrates. Two-thirds of patients experience significant neurological symptoms, but the mechanisms of neurodegeneration are not well understood. Interestingly, a wide range of LSDs show defects in both autophagy and Ca2+ homeostasis, which is notable as Ca2+ is a key regulator of autophagy. The crosstalk between these pathways in the context of LSD pathogenesis is not well characterized, but further understanding of this relationship could open up promising therapeutic targets...
April 25, 2018: Neuroscience Letters
https://www.readbyqxmd.com/read/29703143/diapause-in-a-tropical-oil-collecting-bee-molecular-basis-unveiled-by-rna-seq
#10
Priscila Karla F Santos, Natalia de Souza Araujo, Elaine Françoso, Alexandre Rizzo Zuntini, Maria Cristina Arias
BACKGROUND: Diapause is a natural phenomenon characterized by an arrest in development that ensures the survival of organisms under extreme environmental conditions. The process has been well documented in arthropods. However, its molecular basis has been mainly studied in species from temperate zones, leaving a knowledge gap of this phenomenon in tropical species. In the present study, the Neotropical and solitary bee Tetrapedia diversipes was employed as a model for investigating diapause in species from tropical zones...
April 27, 2018: BMC Genomics
https://www.readbyqxmd.com/read/29686301/endocannabinoids-in-caenorhabditis-elegans-are-essential-for-the-mobilization-of-cholesterol-from-internal-reserves
#11
Celina Galles, Gastón M Prez, Sider Penkov, Sebastian Boland, Exequiel O J Porta, Silvia G Altabe, Guillermo R Labadie, Ulrike Schmidt, Hans-Joachim Knölker, Teymuras V Kurzchalia, Diego de Mendoza
Proper cholesterol transport is crucial for the functionality of cells. In C. elegans, certain cholesterol derivatives called dafachronic acids (DAs) govern the entry into diapause. In their absence, worms form a developmentally arrested dauer larva. Thus, cholesterol transport to appropriate places for DA biosynthesis warrants the reproductive growth. Recently, we discovered a novel class of glycosphingolipids, PEGCs, required for cholesterol mobilization/transport from internal storage pools. Here, we identify other components involved in this process...
April 23, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29676235/current-and-promising-therapies-in-autosomal-recessive-ataxias
#12
Vincent Picher-Martel, Nicolas Dupre
BACKGROUND & OBJECTIVE: Ataxia is clinically characterized by unsteady gait and imbalance. Cerebellar disorders may arise from many causes such as metabolic diseases, stroke or genetic mutations. The genetic causes are classified by mode of inheritance and include autosomal dominant, X-linked and autosomal recessive ataxias. Many years have passed since the description of Friedreich's ataxia, the most common autosomal recessive ataxia, and mutations in many other genes have now been described...
April 18, 2018: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/29659804/high-content-screen-for-modifiers-of-niemann-pick-type-c-disease-in-patient-cells
#13
Emily K Pugach, McKenna Feltes, Randal J Kaufman, Daniel S Ory, Anne G Bang
Niemann-Pick type C disease (NPC) is a rare lysosomal storage disease caused primarily by mutations in NPC1. NPC1 encodes the lysosomal cholesterol transport protein NPC1. The most common NPC1 mutation is a missense mutation (NPC1I1061T) that causes misfolding and rapid degradation of mutant protein in the endoplasmic reticulum. Cholesterol accumulates in enlarged lysosomes as a result of decreased levels of lysosomal NPC1I1061T protein in patient cells. There is currently no cure or FDA-approved treatment for patients...
April 12, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29655638/attenuation-of-the-niemann-pick-type-c2-disease-phenotype-by-intracisternal-administration-of-an-aavrh-10-vector-expressing-npc2
#14
Sandra Markmann, Jasmine Reid, Jonathan B Rosenberg, Bishnu P De, Stephen M Kaminsky, Ronald G Crystal, Dolan Sondhi
Niemann-Pick type C2 (NPC2) disease is a rare, neurodegenerative disorder caused by mutations in the NPC2 gene, leading to lysosomal accumulation of unesterified cholesterol and other lipids. It is characterized by hepatosplenomegaly, liver dysfunction and severe neurological manifestations, resulting in early death. There is no effective therapy for NPC2 disease. Here, we evaluated the effectiveness of an adeno-associated virus (AAV), serotype rh.10 gene transfer vector expressing the mouse Npc2 gene (AAVrh...
April 12, 2018: Experimental Neurology
https://www.readbyqxmd.com/read/29653265/proteomic-analysis-of-chemosensory-organs-in-the-honey-bee-parasite-varroa-destructor-a-comprehensive-examination-of-the-potential-carriers-for-semiochemicals
#15
Immacolata Iovinella, Alison McAfee, Guido Mastrobuoni, Stefan Kempa, Leonard J Foster, Paolo Pelosi, Francesca Romana Dani
We have performed a proteomic analysis on chemosensory organs of Varroa destructor, the honey bee mite, in order to identify putative soluble carriers for pheromones and other olfactory cues emitted by the host. In particular, we have analysed forelegs, mouthparts (palps, chelicera and hypostome) and the second pair of legs (as control tissue) in reproductive and phoretic stages of the Varroa life cycle. We identified 958 Varroa proteins, most of them common to the different organs and stages. Sequence analysis shows that four proteins can be assigned to the odorant-binding protein (OBP)-like class, which bear some similarity to insect OBPs, but so far have only been reported in some Chelicerata...
April 10, 2018: Journal of Proteomics
https://www.readbyqxmd.com/read/29649482/phylogeny-and-evolution-of-the-cholesterol-transporter-npc1-in-insects
#16
Jin-Cheng Zheng, Shao-Lei Sun, Xiao-Rong Yue, Tong-Xian Liu, Xiangfeng Jing
Sterols are essential nutrients for eukaryotes. Insects are obligate sterol auxotrophs and must acquire this key nutrient from their diets. The digestive tract is the organ for absorbing nutrients as well as sterols from food. In mice, the Niemann-Pick type C1 Like 1 (NPC1L1) gene is highly expressed in the intestine and is critical for cholesterol absorption. In contrast, the molecular mechanisms for the absorption of dietary sterols in insects have not been well studied. We annotated NPC1 genes in 39 insects from 10 orders using available genomic and transcriptomic information and inferred phylogenetic relationships...
April 9, 2018: Journal of Insect Physiology
https://www.readbyqxmd.com/read/29629999/cholesterol-transfer-at-endosomal-organelle-membrane-contact-sites
#17
Neale D Ridgway, Kexin Zhao
PURPOSE OF REVIEW: Cholesterol is delivered to the limiting membrane of late endosomes by Niemann-Pick Type C1 and C2 proteins. This review summarizes recent evidence that cholesterol transfer from endosomes to the endoplasmic reticulum and other organelles is mediated by lipid-binding proteins that localize to membrane contact sites (MCS). RECENT FINDINGS: LDL-cholesterol in the late endosomal/lysosomes is exported to the plasma membrane, where most cholesterol resides, and the endoplasmic reticulum, which harbors the regulatory complexes and enzymes that control the synthesis and esterification of cholesterol...
April 7, 2018: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/29626102/identification-of-unusual-oxysterols-and-bile-acids-with-7-oxo-or-3%C3%AE-5%C3%AE-6%C3%AE-trihydroxy-functions-in-human-plasma-by-charge-tagging-mass-spectrometry-with-multistage-fragmentation
#18
William J Griffiths, Ian Gilmore, Eylan Yutuc, Jonas Abdel-Khalik, Peter J Crick, Thomas Hearn, Alison Dickson, Brian W Bigger, Teresa Hoi-Yee Wu, Anu Goenka, Arunabha Ghosh, Simon A Jones, Yuqin Wang
7-Oxocholesterol (7-OC), 5,6-epoxycholesterol (5,6-EC) and its hydrolysis product cholestane-3β,5α,6β-triol (3β,5α,6β-triol) are normally minor oxysterols in human samples, however, in disease their levels may be greatly elevated. This is the case in plasma from patients suffering from some lysosomal storage disorders e.g. Niemann Pick disease type C, or the inborn errors of sterol metabolism e.g. Smith-Lemli-Opitz syndrome and cerebrotendinous xanthomatosis. A complication in the analysis of 7-OC and 5,6-EC is that they can also be formed ex vivo from cholesterol during sample handling in air causing confusion with molecules formed in vivo...
April 6, 2018: Journal of Lipid Research
https://www.readbyqxmd.com/read/29625568/consensus-clinical-management-guidelines-for-niemann-pick-disease-type-c
#19
REVIEW
Tarekegn Geberhiwot, Alessandro Moro, Andrea Dardis, Uma Ramaswami, Sandra Sirrs, Mercedes Pineda Marfa, Marie T Vanier, Mark Walterfang, Shaun Bolton, Charlotte Dawson, Bénédicte Héron, Miriam Stampfer, Jackie Imrie, Christian Hendriksz, Paul Gissen, Ellen Crushell, Maria J Coll, Yann Nadjar, Hans Klünemann, Eugen Mengel, Martin Hrebicek, Simon A Jones, Daniel Ory, Bruno Bembi, Marc Patterson
Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes are associated with abnormal endosomal-lysosomal trafficking, resulting in the accumulation of multiple tissue specific lipids in the lysosomes. The clinical spectrum of NPC disease ranges from a neonatal rapidly progressive fatal disorder to an adult-onset chronic neurodegenerative disease. The age of onset of the first (beyond 3 months of life) neurological symptom may predict the severity of the disease and determines life expectancy...
April 6, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29617956/microglia-activation-in-niemann-pick-disease-type-c1-is-amendableto-therapeutic-intervention
#20
Antony Cougnoux, Rebecca A Drummond, Amanda L Collar, James R Iben, Alexander Salman, Harrison Westgarth, Christopher A Wassif, Niamh X Cawley, Nicole Y Farhat, Keiko Ozato, Mihalis S Lionakis, Forbes D Porter
Niemann-Pick disease, type C1 (NPC1) is a neurodegenerative disorder with limited treatment options. NPC1 is associated with neuroinflammation; however, attempts to therapeutically target neuroinflammation in NPC1 have had mixed success. We show here that NPC1 neuroinflammation is characterized by an atypical microglia activation phenotype. Specifically, Npc1-/- microglia demonstrated altered morphology, reduced levels of lineage markers and a shift towards glycolytic metabolism. Treatment with 2-hydroxypropyl-β-cyclodextrin (HPβCD), a drug currently being studied in a phase 3 clinical trial, reversed all microglia-associated defects in Npc1-/- animals...
March 30, 2018: Human Molecular Genetics
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