نتایج جستجو برای: miglustat

تعداد نتایج: 163  

Journal: :The Journal of biological chemistry 1993
G B Karlsson T D Butters R A Dwek F M Platt

The imino sugar N-butyldeoxynojirimycin (NB-DNJ) exhibits anti-HIV activity in vitro and inhibits the purified glycoprocessing enzyme alpha 1,2-glucosidase I. It has been speculated that the anti-viral activity of this compound may result from inhibition of HIV envelope glycoprotein processing. However, structural evidence that glucosidase inhibition takes place in intact cells at the anti-vira...

2012
Jérôme Stirnemann Marie Vigan Dalil Hamroun Djazia Heraoui Linda Rossi-Semerano Marc G Berger Christian Rose Fabrice Camou Christine de Roux-Serratrice Bernard Grosbois Pierre Kaminsky Alain Robert Catherine Caillaud Roselyne Froissart Thierry Levade Agathe Masseau Cyril Mignot Frédéric Sedel Dries Dobbelaere Marie T Vanier Vassili Valayanopoulos Olivier Fain Bruno Fantin Thierry Billette de Villemeur France Mentré Nadia Belmatoug

BACKGROUND Clinical features, complications and treatments of Gaucher's disease (GD), a rare autosomal-recessive disorder due to a confirmed lysosomal enzyme (glucocerebrosidase) deficiency, are described. METHODS All patients with known GD, living in France, with ≥ 1 consultations (1980-2010), were included in the French GD registry, yielding the following 4 groups: the entire cohort, with c...

2009
Cristin D. Davidson Nafeeza F. Ali Matthew C. Micsenyi Gloria Stephney Sophie Renault Kostantin Dobrenis Daniel S. Ory Marie T. Vanier Steven U. Walkley

BACKGROUND Niemann-Pick type C (NPC) disease is a fatal neurodegenerative disorder caused most commonly by a defect in the NPC1 protein and characterized by widespread intracellular accumulation of unesterified cholesterol and glycosphingolipids (GSLs). While current treatment therapies are limited, a few drugs tested in Npc1(-/-) mice have shown partial benefit. During a combination treatment ...

2010
Forbes D. Porter

tables on cholesterol by using its oxidation products to diagnose and treat the disease in its earliest stages. drug efficacy. Free cholesterol may be at the root of Niemann-Pick C1 disease, but now, there is a way to turn the markers of early clinical disease and can be used not only to monitor disease progression but also to demonstrate or diabetes. Together, these compelling results suggest ...

2013
Eugen Mengel Hans-Hermann Klünemann Charles M Lourenço Christian J Hendriksz Frédéric Sedel Mark Walterfang Stefan A Kolb

Niemann-Pick disease type C (NP-C) is a rare, progressive, irreversible disease leading to disabling neurological manifestations and premature death. The estimated disease incidence is 1:120,000 live births, but this likely represents an underestimate, as the disease may be under-diagnosed due to its highly heterogeneous presentation. NP-C is characterised by visceral, neurological and psychiat...

Journal: :Glycobiology 2006
Max Crispin David J Harvey Veronica T Chang Chao Yu A Radu Aricescu E Yvonne Jones Simon J Davis Raymond A Dwek Pauline M Rudd

A mammalian N-acetylglucosamine (GlcNAc) transferase I (GnT I)-independent fucosylation pathway is revealed by the use of matrix-assisted laser desorption/ionization (MALDI) and negative-ion nano-electrospray ionization (ESI) mass spectrometry of N-linked glycans from natively folded recombinant glycoproteins, expressed in both human embryonic kidney (HEK) 293S and Chinese hamster ovary (CHO) L...

2017
Hui Zhao Tong-Hui Hao Guo-Hua Hu Dean Shi Da Huang Tao Jiang Qun-Chao Zhang

A series of novel polyurethanes containing cross-linked siloxane in the side chain (SPU) were successfully synthesized through a sol-gel process. The SPU was composed of 0%-20% N-(n-butyl)-3-aminopropyltriethoxysilane (HDI-T) modified hexamethylene diisocynate homopolymer. The effects of HDI-T content on both the structure and properties of SPU were investigated by Fourier transform infrared sp...

Journal: :The Journal of clinical investigation 2015
Adel Ersek Ke Xu Aristotelis Antonopoulos Terry D Butters Ana Espirito Santo Youridies Vattakuzhi Lynn M Williams Katerina Goudevenou Lynett Danks Andrew Freidin Emmanouil Spanoudakis Simon Parry Maria Papaioannou Evdoxia Hatjiharissi Aristeidis Chaidos Dominic S Alonzi Gabriele Twigg Ming Hu Raymond A Dwek Stuart M Haslam Irene Roberts Anne Dell Amin Rahemtulla Nicole J Horwood Anastasios Karadimitris

Glycosphingolipids (GSLs) are essential constituents of cell membranes and lipid rafts and can modulate signal transduction events. The contribution of GSLs in osteoclast (OC) activation and osteolytic bone diseases in malignancies such as the plasma cell dyscrasia multiple myeloma (MM) is not known. Here, we tested the hypothesis that pathological activation of OCs in MM requires de novo GSL s...

Journal: :Journal of lipid research 2008
Purna Mukherjee Anthony C Faber Laura M Shelton Rena C Baek Thomas C Chiles Thomas N Seyfried

Gangliosides are sialic acid-containing glycosphingolipids that have long been associated with tumor malignancy and metastasis. Mounting evidence suggests that gangliosides also modulate tumor angiogenesis. Tumor cells shed gangliosides into the microenvironment, which produces both autocrine and paracrine effects on tumor cells and tumor-associated host cells. In this study, we show that the s...

Journal: :Journal of lipid research 2014
James A Shayman

Journal of Lipid Research Volume 55, 2014 993 Copyright © 2014 by the American Society for Biochemistry and Molecular Biology, Inc. The identifi cation of the lysosome as a unique cellular organelle by Christian de Duve ( 1 ) occurred less than sixty years ago. The importance of his discovery was immediately appreciated when several monogenic diseases arising from the loss of lysosomal enzyme a...

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