Development of a model system for neuronal dysfunction in Fabry disease
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- 作者：Christine R. Kaneskia ; kaneskic@ninds.nih.gov" class="auth_mail" title="E-mail the corresponding author ; Roscoe O. Bradya ; John A. Hanoverb ; Ulrike H. Schuelerb
- 关键词：4-MU ; 4-methylumbelliferone ; AGA ; alpha-galactosidase A ; ACh ; acetylcholine ; B2M ; beta-2-microglobulin ; CTNF ; ciliary neurotrophic factor ; FACS ; fluorescence activated cells sorting ; HEX ; hexosaminidase ; HRP ; horseradish peroxidase ; Gb3 ; globotriaosylceramide ; GCS ; GemCell&trade ; Calf Serum ; lyso-Gb3 ; globotriaosylsphingosine ; pChAT ; peripheral acetylcholine transferase ; qRT-PCR ; quantitative real-time reverse-transcription polymerase chain reaction ; RFU ; relative fluorescence units ; shRNA ; shor
- 刊名：Molecular Genetics and Metabolism
- 出版年：2016
- 出版时间：September-October 2016
- 年：2016
- 卷：119
- 期：1-2
- 页码：144-150
- 全文大小：725 K
文摘
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Fabry disease is caused by a deficiency of lysosomal alpha-galactosidase A (AGA).
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Stable transfection of shRNA silenced AGA expression in the neuronal cell line LA-N-2.
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Gene-silenced LA-N-2 cells have reduced AGA activity and accumulate Gb3.
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Gene-silenced LA-N-2 show impaired neurotransmitter release and poor growth.