Modulating ryanodine receptors with dantrolene attenuates neuronopathic phenotype in Gaucher disease mice.

Title

Modulating ryanodine receptors with dantrolene attenuates neuronopathic phenotype in Gaucher disease mice.

Creator

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

Publisher

Human molecular genetics

Date

2016
2016-12

Description

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

Subject

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

Identifier

Rights

Article information provided for research and reference use only. All rights are retained by the journal listed under publisher and/or the creator(s).

Pages

5126–5141

Issue

23

Volume

25

Citation

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, “Modulating ryanodine receptors with dantrolene attenuates neuronopathic phenotype in Gaucher disease mice.,” NEOMED Bibliography Database, accessed January 21, 2021, https://neomed.omeka.net/items/show/4188.

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