نتایج جستجو برای: pick type c1 npc1

تعداد نتایج: 1363808  

Journal: :Journal of virology 2015
Makoto Kuroda Daisuke Fujikura Asuka Nanbo Andrea Marzi Osamu Noyori Masahiro Kajihara Junki Maruyama Keita Matsuno Hiroko Miyamoto Reiko Yoshida Heinz Feldmann Ayato Takada

UNLABELLED Multiple host molecules are known to be involved in the cellular entry of filoviruses, including Ebola virus (EBOV); T-cell immunoglobulin and mucin domain 1 (TIM-1) and Niemann-Pick C1 (NPC1) have been identified as attachment and fusion receptors, respectively. However, the molecular mechanisms underlying the entry process have not been fully understood. We found that TIM-1 and NPC...

2017
D.A. Mauler B. Gandolfi C.R. Reinero D.P. O'Brien J.L. Spooner L.A. Lyons Danielle Aberdein Paulo C. Alves Gregory S. Barsh Holly C. Beale Adam R. Boyko Jeffrey A. Brockman Marta G. Castelhano Patricia P. Chan N. Matthew Ellinwood Jonathan E. Fogle Dorian J. Garrick Christopher R. Helps Marjo K. Hytönen Maria Kaukonen Christopher B. Kaelin Emilie Leclerc Tosso Leeb Hannes Lohi Maria Longeri Richard Malik Michael J. Montague John S. Munday William J. Murphy Niels C. Pedersen Max F. Rothschild Joshua A. Stern William F. Swanson Karen A. Terio Rory J. Todhunter Yu Ueda Wesley C. Warren Elizabeth A. Wilcox Julia H. Wildschutte

State-of-the-art health care includes genome sequencing of the patient to identify genetic variants that contribute to either the cause of their malady or variants that can be targeted to improve treatment. The goal was to introduce state-of-the-art health care to cats using genomics and a precision medicine approach. To test the feasibility of a precision medicine approach in domestic cats, a ...

2017
Adriana Lo Castro Michela Murdocca Sabina Pucci Anna Zaratti Chiara Greggi Federica Sangiuolo Virginia Tancredi Claudio Frank Giovanna D’Arcangelo

Niemann-Pick type C disease (NPCD) is an autosomal recessive storage disorder, characterized by abnormal sequestration of unesterified cholesterol within the late endo-lysosomal compartment of cells. In the central nervous system, hypoxic insults could result in low-density lipoprotein (LDL) oxidation and Lectin-like oxidized LDL receptor-1 (LOX-1) induction, leading to a pathological hippocamp...

2012
Bjoern von Einem Petra Weber Michael Wagner Martina Malnar Marko Kosicek Silva Hecimovic Christine A. F. von Arnim Herbert Schneckenburger

Förster resonance energy transfer (FRET) -based techniques have recently been applied to study the interactions between β-site APP-cleaving enzyme-GFP (BACE1-GFP) and amyloid precursor protein-mRFP (APP-mRFP) in U373 glioblastoma cells. In this context, the role of APP-BACE1 proximity in Alzheimer's disease (AD) pathogenesis has been discussed. FRET was found to depend on intracellular choleste...

Journal: :Journal of lipid research 2006
Barbara Karten Robert B Campenot Dennis E Vance Jean E Vance

Niemann-Pick type C (NPC) disease is a fatal, neurodegenerative disorder caused in 95% of cases by loss of function of NPC1, a ubiquitous endosomal transmembrane protein. A biochemical hallmark of NPC deficiency is cholesterol accumulation in the endocytic pathway. Although cholesterol trafficking defects are observed in all cell types, neurons are the most vulnerable to NPC1 deficiency, sugges...

Journal: :Journal of lipid research 2011
L Ulatowski R Parker C Davidson N Yanjanin T J Kelley D Corey J Atkinson F Porter H Arai S U Walkley D Manor

Vitamin E (α-tocopherol) is the major lipid-soluble antioxidant in many species. Niemann-Pick type C (NPC) disease is a lysosomal storage disorder caused by mutations in the NPC1 or NPC2 gene, which regulates lipid transport through the endocytic pathway. NPC disease is characterized by massive intracellular accumulation of unesterified cholesterol and other lipids in lysosomal vesicles. We exa...

2012
John Wade Totenhagen

...................................................................................................................... 9 INTRODUCTION........................................................................................................... 11 Dissertation Format ....................................................................................................... 15 PRESENT STUDY................

Journal: :journal of cellular and molecular anesthesia 0
masoud nashibi anesthesiology research center, shahid beheshti university of medical sciences, tehran, iran ardeshir tajbakhsh anesthesiology research center, shahid beheshti university of medical sciences, tehran, iran farhad safari anesthesiology research center, shahid beheshti university of medical sciences, tehran, iran kamran mottaghi anesthesiology research center, shahid beheshti university of medical sciences, tehran, iran

nieman-pick disease type c is a rare, autosomal recessive, neurometabolic disorder associated with the accumulation of unesterified cholesterol in lysosomes and late endosomes. because of multiple organ involvement and wide range of clinical manifestations, these patients will demand multiple diagnostic and therapeutic procedures requiring anesthesia. sincepathogenesis of this disease is still ...

2013
Michaela Trilck Rayk Hübner Philip Seibler Christine Klein Arndt Rolfs Moritz J Frech

BACKGROUND Niemann-Pick type C1 disease (NPC1) is a rare progressive neurodegenerative disorder caused by mutations in the NPC1 gene. In this lysosomal storage disorder the intracellular transport and sequestration of several lipids like cholesterol is severely impaired, resulting in an accumulation of lipids in late endosomes and lysosomes. The neurological manifestation of the disease is caus...

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