Use of lissamine rhodamine ceramide trihexoside as a functional assay for alpha-galactosidase A in intact cells

Kaneski, Christine R.; Schiffmann, Raphael; Brady, Roscoe O.; Murray, Gary J.

doi:10.1194/jlr.d007294

Cited by 6 publications

(2 citation statements)

References 27 publications

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“…A standard fluorometric assay for AGA in cell extracts was performed as previously described [ 39 ] with modifications. Briefly, cell pellets were resuspended in citrate-phosphate buffer (pH 4.6) containing sodium taurocholate (5 mg/ml) and Triton-X 100 (0.1%).…”

Section: Methodsmentioning

confidence: 99%

Generation of GLA-knockout human embryonic stem cell lines to model peripheral neuropathy in Fabry disease

Kaneski¹,

Hanover²,

Hoffman³

2022

Molecular Genetics and Metabolism Reports

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Section: Methodsmentioning

confidence: 99%

Generation of GLA-knockout human embryonic stem cell lines to model peripheral neuropathy in Fabry disease

Kaneski¹,

Hanover²,

Hoffman³

2022

Molecular Genetics and Metabolism Reports

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“…A standard uorometric assay for AGA in cell extracts was performed as previously described [17] with modifications. Brie y, cell pellets were resuspended in citrate-phosphate buffer (pH 4.6) containing sodium taurocholate (5 mg/ml) and Triton-X 100 (0.1%).…”

Section: Methodsmentioning

confidence: 99%

Development of a model system for neuronal dysfunction in Fabry disease

Kaneski

Brady

Hanover

et al. 2016

Molecular Genetics and Metabolism

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Fabry disease is a glycosphingolipid storage disorder that is caused by a genetic deficiency of the enzyme alpha-galactosidase A (AGA, EC 3.2.1.22). It is a multisystem disease that affects the vascular, cardiac, renal, and nervous systems. One of the hallmarks of this disorder is neuropathic pain and sympathetic and parasympathetic nervous dysfunction. The exact mechanism by which changes in AGA activity result in change in neuronal function is not clear, partly due to of a lack of relevant model systems. In this study, we report the development of an in vitro model system to study neuronal dysfunction in Fabry disease by using short-hairpin RNA to create a stable knock-down of AGA in the human cholinergic neuronal cell line, LA-N-2. We show that gene-silenced cells show specifically reduced AGA activity and store globotriaosylceramide. In gene-silenced cells, release of the neurotransmitter acetylcholine is significantly reduced, demonstrating that this model may be used to study specific neuronal functions such as neurotransmitter release in Fabry disease.

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Generation of an in vitro model for peripheral neuropathy in Fabry disease using CRISPR-Cas9 in the nociceptive dorsal root ganglion cell line 50B11

Kaneski

Hanover

Hoffman

2022

Molecular Genetics and Metabolism Reports

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Use of lissamine rhodamine ceramide trihexoside as a functional assay for alpha-galactosidase A in intact cells

Cited by 6 publications

References 27 publications

Generation of GLA-knockout human embryonic stem cell lines to model peripheral neuropathy in Fabry disease

Generation of GLA-knockout human embryonic stem cell lines to model peripheral neuropathy in Fabry disease

Development of a model system for neuronal dysfunction in Fabry disease

Generation of an in vitro model for peripheral neuropathy in Fabry disease using CRISPR-Cas9 in the nociceptive dorsal root ganglion cell line 50B11

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