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Text
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URL Address
<a href="http://doi.org/10.1093/hmg/ddw322" target="_blank" rel="noreferrer noopener">http://doi.org/10.1093/hmg/ddw322</a>
Pages
5126–5141
Issue
23
Volume
25
Dublin Core
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Title
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Modulating ryanodine receptors with dantrolene attenuates neuronopathic phenotype in Gaucher disease mice.
Publisher
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Human molecular genetics
Date
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2016
2016-12
Subject
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Animal; Animals; Calcium Signaling/genetics; Dantrolene/*administration & dosage; Disease Models; Gaucher Disease/*drug therapy/genetics/physiopathology; Humans; Mice; Mitochondria/*drug effects/genetics/pathology; Neurons/drug effects/pathology; Neuroprotective Agents/administration & dosage; Ryanodine Receptor Calcium Release Channel/*genetics/metabolism
Creator
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Liou Benjamin; Peng Yanyan; Li Ronghua; Inskeep Venette; Zhang Wujuan; Quinn Brian; Dasgupta Nupur; Blackwood Rachel; Setchell Kenneth D R; Fleming Sheila; Grabowski Gregory A; Marshall John; Sun Ying
Description
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Neuronopathic Gaucher disease (nGD) manifests as severe neurological symptoms in patients with no effective treatment available. Ryanodine receptors (Ryrs) are a family of calcium release channels on intracellular stores. The goal of this study is to determine if Ryrs are potential targets for nGD treatment. A nGD cell model (CBE-N2a) was created by inhibiting acid beta-glucosidase (GCase) in N2a cells with conduritol B epoxide (CBE). Enhanced cytosolic calcium in CBE-N2a cells was blocked by either ryanodine or dantrolene, antagonists of Ryrs and by Genz-161, a glucosylceramide synthase inhibitor, suggesting substrate-mediated
Identifier
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<a href="http://doi.org/10.1093/hmg/ddw322" target="_blank" rel="noreferrer noopener">10.1093/hmg/ddw322</a>
Rights
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Article information provided for research and reference use only. All rights are retained by the journal listed under publisher and/or the creator(s).
2016
Animal
Animals
Blackwood Rachel
Calcium Signaling/genetics
Dantrolene/*administration & dosage
Dasgupta Nupur
Department of Pharmaceutical Sciences
Disease Models
Fleming Sheila
Gaucher Disease/*drug therapy/genetics/physiopathology
Grabowski Gregory A
Human molecular genetics
Humans
Inskeep Venette
Li Ronghua
Liou Benjamin
Marshall John
Mice
Mitochondria/*drug effects/genetics/pathology
NEOMED College of Pharmacy
Neurons/drug effects/pathology
Neuroprotective Agents/administration & dosage
Peng Yanyan
Quinn Brian
Ryanodine Receptor Calcium Release Channel/*genetics/metabolism
Setchell Kenneth D R
Sun Ying
Zhang Wujuan