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https://www.readbyqxmd.com/read/28315682/n-terminal-domain-of-the-cholesterol-transporter-niemann-pick-c1-like-1-npc1l1-is-essential-for-%C3%AE-tocopherol-transport
#1
Jun Kamishikiryo, Misaki Haraguchi, Shunsuke Nakashima, Yuka Tasaka, Hiroe Narahara, Narumi Sugihara, Tetsuya Nakamura, Tetsuo Morita
Both cholesterol and α-tocopherol are essential lipophilic nutrients for humans and animals. Although cholesterol in excess causes severe problems such as coronary heart disease, it is a necessary component of cell membranes and is the precursor for the biosynthesis of steroid hormones and bile acids. Niemann-Pick C1-like 1 (NPC1L1) is a cholesterol transporter that is highly expressed in the small intestine and liver in humans and plays an important role in cholesterol homeostasis. Cholesterol promotes NPC1L1 endocytosis, which is an early step in cholesterol uptake...
March 15, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28314383/erratum-to-depicted-serving-size-cereal-packaging-pictures-exaggerate-serving-sizes-and-promote-overserving
#2
Aner Tal, Stina Niemann, Brian Wansink
No abstract text is available yet for this article.
March 17, 2017: BMC Public Health
https://www.readbyqxmd.com/read/28302345/newborn-screening-for-six-lysosomal-storage-disorders-in-a-cohort-of-mexican-patients-three-year-findings-from-a-screening-program-in-a-closed-mexican-health-system
#3
Juana Inés Navarrete-Martínez, Ana Elena Limón-Rojas, Maria de Jesús Gaytán-García, Jesús Reyna-Figueroa, Guillermo Wakida-Kusunoki, Ma Del Rocío Delgado-Calvillo, Consuelo Cantú-Reyna, Héctor Cruz-Camino, David Eduardo Cervantes-Barragán
OBJECTIVE: To evaluate the results of a lysosomal newborn screening (NBS) program in a cohort of 20,018 Mexican patients over the course of 3years in a closed Mexican Health System (Petróleos Mexicanos [PEMEX] Health Services). STUDY DESIGN: Using dried blood spots (DBS), we performed a multiplex tandem mass spectrometry enzymatic assay for six lysosomal storage disorders (LSDs) including Pompe disease, Fabry disease, Gaucher disease, mucopolysaccharidosis type I (MPS-I), Niemann-Pick type A/B, and Krabbe disease...
March 9, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28299982/oligo-ethylene-glycol-modified-%C3%AE-cyclodextrin-based-polyrotaxanes-for-simultaneously-modulating-solubility-and-cellular-internalization-efficiency
#4
Atsushi Tamura, Moe Ohashi, Nobuhiko Yui
We developed stimuli-labile polyrotaxanes (PRXs) composed of β-cyclodextrin (β-CD), Pluronic as an axle polymer, and acid-cleavable N-triphenylmethyl groups as bulky stopper molecules, and found that the PRXs are potent therapeutics for Niemann-Pick type C disease, because the PRX can effectively reduce intracellular cholesterol through the intracellular release of threaded β-CDs. In general, the PRXs need to be chemically modified with hydrophilic functional groups because PRXs are not soluble in aqueous media...
March 16, 2017: Journal of Biomaterials Science. Polymer Edition
https://www.readbyqxmd.com/read/28298101/acetonitrile-cluster-solvation-in-a-cryogenic-ethane-methane-propane-liquid-implications-for-titan-lake-chemistry
#5
L René Corrales, Thomas D Yi, Samantha K Trumbo, David Shalloway, Jonathan I Lunine, David A Usher
The atmosphere of Titan, Saturn's largest moon, exhibits interesting UV- and radiation-driven chemistry between nitrogen and methane, resulting in dipolar, nitrile-containing molecules. The assembly and subsequent solvation of such molecules in the alkane lakes and seas found on the moon's surface are of particular interest for investigating the possibility of prebiotic chemistry in Titan's hydrophobic seas. Here we characterize the solvation of acetonitrile, a product of Titan's atmospheric radiation chemistry tentatively detected on Titan's surface [H...
March 14, 2017: Journal of Chemical Physics
https://www.readbyqxmd.com/read/28286782/computational-approaches-to-facilitate-epitope-based-hla-matching-in-solid-organ-transplantation
#6
Kirsten Geneugelijk, Jeroen Wissing, Dirk Koppenaal, Matthias Niemann, Eric Spierings
Epitope-based HLA matching has been emerged over the last few years as an improved method for HLA matching in solid organ transplantation. The epitope-based matching concept has been incorporated in both the PIRCHE-II and the HLAMatchmaker algorithm to find the most suitable donor for a recipient. For these algorithms, high-resolution HLA genotype data of both donor and recipient is required. Since high-resolution HLA genotype data is often not available, we developed a computational method which allows epitope-based HLA matching from serological split level HLA typing relying on HLA haplotype frequencies...
2017: Journal of Immunology Research
https://www.readbyqxmd.com/read/28284077/multiplex-detection-of-extensively-drug-resistant-tuberculosis-using-binary-deoxyribozyme-sensors
#7
Hillary N Bengtson, Susanne Homolka, Stefan Niemann, Ana Júlia Reis, Pedro Eduardo da Silva, Yulia V Gerasimova, Dmitry M Kolpashchikov, Kyle H Rohde
Current diagnostic tools for Mycobacterium tuberculosis (Mtb) have many disadvantages including low sensitivity, slow turnaround times, or high cost. Accurate, easy to use, and inexpensive point of care molecular diagnostic tests are urgently needed for the analysis of multidrug resistant (MDR) and extensively drug resistant (XDR) Mtb strains that emerge globally as a public health threat. In this study, we established proof-of-concept for a novel diagnostic platform (TB-DzT) for Mtb detection and the identification of drug resistant mutants using binary deoxyribozyme sensors (BiDz)...
March 1, 2017: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/28282615/mln64-induces-mitochondrial-dysfunction-associated-with-increased-mitochondrial-cholesterol-content
#8
Elisa Balboa, Juan Castro, María-José Pinochet, Gonzalo I Cancino, Nuria Matías, Pablo José Sáez, Alexis Martínez, Alejandra R Álvarez, Carmen Garcia-Ruiz, José C Fernandez-Checa, Silvana Zanlungo
MLN64 is a late endosomal cholesterol-binding membrane protein that has been implicated in cholesterol transport from endosomal membranes to the plasma membrane and/or mitochondria, in toxin-induced resistance, and in mitochondrial dysfunction. Down-regulation of MLN64 in Niemann-Pick C1 deficient cells decreased mitochondrial cholesterol content, suggesting that MLN64 functions independently of NPC1. However, the role of MLN64 in the maintenance of endosomal cholesterol flow and intracellular cholesterol homeostasis remains unclear...
March 2, 2017: Redox Biology
https://www.readbyqxmd.com/read/28281372/carbon-monoxide-reduces-near-infrared-spectroscopy-determined-total-hemoglobin-a-human-volunteer-study
#9
Mads J Niemann, Henrik Sørensen, Christoph Siebenmann, Carsten Lundby, Niels H Secher
Carbon monoxide (CO) increases middle cerebral artery mean flow velocity (MCAVmean), but the effect of CO on the near-infrared spectroscopy (NIRS) determined cerebral oxygenation (ScO2) is not detailed. In our study, 11 non-smoking subjects breathed 100% O2 through a closed circuit. A CO2 scrubber with CO (1.5 mL kg(-1)) was added to the circuit. Two NIRS systems (NIRO-200NX and INVOS-5100) assessed ScO2 as the ratio of oxygenated to deoxygenated hemoglobin, while venous blood samples were analyzed for carboxyhemoglobin (COHb)...
March 10, 2017: Scandinavian Journal of Clinical and Laboratory Investigation
https://www.readbyqxmd.com/read/28278728/soluble-cd52-is-an-indicator-of-disease-activity-in-chronic-lymphocytic-leukemia
#10
Fie J Vojdeman, Sarah E M Herman, Nikolai Kirkby, Adrian Wiestner, Mars B van T' Veer, Geir E Tjønnfjord, Maija A Itälä-Remes, Eva Kimby, Mohammed Z Farooqui, Aaron Polliack, Ka Lung Wu, Jeanette K Doorduijn, Wendimagegn G Alemayehu, Shulamiet Wittebol, Tomas Kozak, Jan Walewski, Martine C J Abrahamse-Testroote, Marinus H J van Oers, Christian H Geisler, Carsten U Niemann
CD52 is a glycoprotein expressed on normal as well as leukemic immune cells and shed as soluble CD52 (sCD52). We studied sCD52 levels in three CLL cohorts: the 'early', the 'high-risk', and the 'ibrutinib-treated'. The 'high-risk' patients had significantly higher sCD52 levels than the 'early' patients. For the 'early' patients, high sCD52 levels were associated with a significantly shorter time to first treatment. Regarding prognostic factors, no clear correlations with stage, IGHV, or beta-2-microglobulin were found; in a cox multivariate analysis of the 'early' patients, sCD52 and IGHV both had independent prognostic value...
February 7, 2017: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/28276873/the-hidden-niemann-pick-type-c-patient-clinical-niches-for-a-rare-inherited-metabolic-disease
#11
Christian J Hendriksz, Mathieu Anheim, Peter Bauer, Olivier Bonnot, Anupam Chakrapani, Jean-Christophe Corvol, Tom J de Koning, Anna Degtyareva, Carlo Dionisi-Vici, Sarah Doss, Thomas Duning, Paola Giunti, Rosa Iodice, Tracy Johnston, Dierdre Kelly, Hans-Hermann Klünemann, Stefan Lorenzl, Alessandro Padovani, Miguel Pocovi, Matthis Synofzik, Alta Terblanche, Florian Then Bergh, Meral Topçu, Christine Tranchant, Mark Walterfang, Christian Velten, Stefan A Kolb
BACKGROUND: Niemann-Pick disease type C (NP-C) is a rare, inherited neurodegenerative disease of impaired intracellular lipid trafficking. Clinical symptoms are highly heterogeneous, including neurological, visceral, or psychiatric manifestations. The incidence of NP-C is under-estimated due to under-recognition or misdiagnosis across a wide range of medical fields. New screening and diagnostic methods provide an opportunity to improve detection of unrecognized cases in clinical sub-populations associated with a higher risk of NP-C...
March 2, 2017: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/28272068/rare-disease-heralded-by-pulmonary-manifestations-avoiding-pitfalls-of-an-asthma-label
#12
S Bajaj, M Muranjan, S Karande, D Prabhat
Pulmonary manifestations are seldom recognized as symptoms of storage disorders. The report describes the diagnostic journey in a 30-month-old male infant, born of a third-degree consanguineous marriage referred to our institute as severe persistent asthma. History revealed that the child had progressively worsening breathlessness and persistent dry cough not associated with fever but accompanied by weight loss. On physical examination, there was growth failure, respiratory distress, clubbing, hepatosplenomegaly, and occasional rhonchi...
March 3, 2017: Journal of Postgraduate Medicine
https://www.readbyqxmd.com/read/28270911/relationship-between-hsp90a-npc2-and-l-pgds-proteins-to-boar-semen-freezability
#13
Julián Valencia, Germán Gómez, Walter López, Henry Mesa, Francisco Javier Henao
BACKGROUND: The purpose of this study was to determine the association of three proteins involved in sperm function on the freezability of porcine semen: the heat shock protein 90 alpha (HSP90a), the Niemann-Pick disease type C2 protein (NPC2), and lipocalin-type prostaglandin D synthase (L-PGDS). Six adult boars (each boar was ejaculated three times, 18 in total) were classified by freezability based on the percentage of functionally competent sperm. The male semen with highest freezability (MHF) and the male semen with lowest freezability (MLF) were centrifuged immediately after collection to separate seminal plasma and spermatozoa to make four possible combinations of these two components and to incubate them for 3 h, adjusting the temperature to 17 °C, to freeze them afterwards...
2017: Journal of Animal Science and Biotechnology
https://www.readbyqxmd.com/read/28268080/prognostic-power-of-nt-probnp-in-left-ventricular-non-compaction-cardiomyopathy
#14
Simon F Stämpfli, Ladina Erhart, Niels Hagenbuch, Barbara E Stähli, Christiane Gruner, Matthias Greutmann, Markus Niemann, Beat A Kaufmann, Rolf Jenni, Leonhard Held, Felix C Tanner
BACKGROUND: The risk of adverse events in patients with left ventricular non-compaction cardiomyopathy (LVNC) is substantial. This study was designed to determine the prognostic value of NT-proBNP, left ventricular ejection fraction (LVEF), NYHA class, and exercise capacity in LVNC patients. METHODS: Cox regression analyses were performed for evaluating the prognostic value of NT-proBNP, LVEF, NYHA class, and exercise capacity on the occurrence of death or heart transplantation...
February 24, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28262793/characterization-of-cholesterol-homeostasis-in-sphingosine-1-phosphate-lyase-deficient-fibroblasts-reveals-a-niemann-pick-disease-type-c-like-phenotype-with-enhanced-lysosomal-ca-2-storage
#15
Hans Vienken, Nathalie Mabrouki, Katja Grabau, Ralf Frederik Claas, Agnes Rudowski, Nina Schömel, Josef Pfeilschifter, Dieter Lütjohann, Gerhild van Echten-Deckert, Dagmar Meyer Zu Heringdorf
Sphingosine-1-phosphate (S1P) lyase irreversibly cleaves S1P, thereby catalysing the ultimate step of sphingolipid degradation. We show here that embryonic fibroblasts from S1P lyase-deficient mice (Sgpl1(-/-)-MEFs), in which S1P and sphingosine accumulate, have features of Niemann-Pick disease type C (NPC) cells. In the presence of serum, overall cholesterol content was elevated in Sgpl1(-/-)-MEFs, due to upregulation of the LDL receptor and enhanced cholesterol uptake. Despite this, activation of sterol regulatory element-binding protein-2 was increased in Sgpl1(-/-)-MEFs, indicating a local lack of cholesterol at the ER...
March 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28262790/chiral-magnetoresistance-in-the-weyl-semimetal-nbp
#16
Anna Corinna Niemann, Johannes Gooth, Shu-Chun Wu, Svenja Bäßler, Philip Sergelius, Ruben Hühne, Bernd Rellinghaus, Chandra Shekhar, Vicky Süß, Marcus Schmidt, Claudia Felser, Binghai Yan, Kornelius Nielsch
NbP is a recently realized Weyl semimetal (WSM), hosting Weyl points through which conduction and valence bands cross linearly in the bulk and exotic Fermi arcs appear. The most intriguing transport phenomenon of a WSM is the chiral anomaly-induced negative magnetoresistance (NMR) in parallel electric and magnetic fields. In intrinsic NbP the Weyl points lie far from the Fermi energy, making chiral magneto-transport elusive. Here, we use Ga-doping to relocate the Fermi energy in NbP sufficiently close to the W2 Weyl points, for which the different Fermi surfaces are verified by resultant quantum oscillations...
March 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28262007/muscle-oxygen-saturation-increases-during-head-up-tilt-induced-pre-syncope
#17
A Lund, H Sørensen, T W Jensen, M J Niemann, N D Olesen, H B Nielsen, N V Olsen, N H Secher
AIM: To evaluate whether muscle vasodilatation plays a role for hypotension developed during central hypovolaemia, muscle oxygenation (Sm O2 ) was examined during (pre)syncope induced by head-up tilt (HUT). Skin blood flow (SkBF) and oxygenation (Sskin O2 ) were determined because evaluation of Sm O2 may be affected by superficial tissue oxygenation. Furthermore, we evaluated cerebral oxygenation (Sc O2 ) and middle cerebral artery mean blood flow velocity (MCAvmean ). METHODS: Twenty healthy male volunteers (median age 24 years; range 19-38) were subjected to passive 50° HUT for 1 hour or until (pre)syncope...
March 6, 2017: Acta Physiologica
https://www.readbyqxmd.com/read/28259659/bean-peptides-have-higher-in-silico-binding-affinities-than-ezetimibe-for-the-n-terminal-domain-of-cholesterol-receptor-niemann-pick-c1-like-1
#18
Luis M Real Hernandez, Elvira Gonzalez de Mejia
Niemann-Pick C1 like-1 (NPC1L1) mediates cholesterol absorption at the apical membrane of enterocytes through a yet unknown mechanism. Bean, pea, and lentil proteins are naturally hydrolyzed during digestion to produce peptides. The potential for pulse peptides to have high binding affinities for NPC1L1 has not been determined. In this study , in silico binding affinities and interactions were determined between the N-terminal domain of NPC1L1 and 14 pulse peptides (5≥ amino acids) derived through pepsin-pancreatin digestion...
March 1, 2017: Peptides
https://www.readbyqxmd.com/read/28259515/quantitation-of-plasmatic-lysosphingomyelin-and-lysosphingomyelin-509-for-differential-screening-of-niemann-pick-a-b-and-c-diseases
#19
L Kuchar, J Sikora, M E Gulinello, H Poupetova, A Lugowska, V Malinova, H Jahnova, B Asfaw, J Ledvinova
Acid sphingomyelinase deficiency (ASMd, Niemann-Pick disease A/B) and Niemann-Pick type C disease (NPC) share core clinical symptoms. Initial diagnostic discrimination of these two rare lysosomal storage diseases is thus difficult. As sphingomyelin accumulates in ASMd as well as NPC, lysosphingomyelin (sphingosylphosphorylcholine) and its m/z 509 analog were suggested as biomarkers for both diseases. Herein we present results of simultaneous LC-ESI-MS/MS measurements of lysosphingomyelin and lysosphingomyelin 509 in plasma and dried blood spots (DBS) collected from ASMd and NPC patients and suggest that the plasma but not DBS levels of the two analytes allow differential biochemical screening of ASMd and NPC...
March 1, 2017: Analytical Biochemistry
https://www.readbyqxmd.com/read/28254247/vertical-supranuclear-gaze-palsy-in-a-toddler-with-niemann-pick-type-c
#20
Tatiana Bremova, Michael Strupp
No abstract text is available yet for this article.
January 21, 2017: Pediatric Neurology
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