Lysosomal membrane integrity in fibroblasts derived from patients with Gaucher disease
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- Hamamoto Asuka
- Graduate School of Pharmaceutical Science, Kyoto University
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- Kita Natsuki
- Graduate School of Pharmaceutical Science, Kyoto University
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- B. Gowda Siddabasave Gowda
- Faculty of Health Sciences, Hokkaido University Graduate School of Global Food Resources, Hokkaido University
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- Takatsu Hiroyuki
- Graduate School of Pharmaceutical Science, Kyoto University
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- Nakayama Kazuhisa
- Graduate School of Pharmaceutical Science, Kyoto University
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- Arita Makoto
- Laboratory for Metabolomics, RIKEN Center of Integrative Medical Sciences
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- Hui Shu-Ping
- Faculty of Health Sciences, Hokkaido University
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- Shin Hye-Won
- Graduate School of Pharmaceutical Science, Kyoto University
抄録
<p>Gaucher disease (GD) is a recessively inherited lysosomal storage disorder characterized by a deficiency of lysosomal glucocerebrosidase (GBA1). This deficiency results in the accumulation of its substrate, glucosylceramide (GlcCer), within lysosomes. Here, we investigated lysosomal abnormalities in fibroblasts derived from patients with GD. It is noteworthy that the cellular distribution of lysosomes and lysosomal proteolytic activity remained largely unaffected in GD fibroblasts. However, we found that lysosomal membranes of GD fibroblasts were susceptible to damage when exposed to a lysosomotropic agent. Moreover, the susceptibility of lysosomal membranes to a lysosomotropic agent could be partly restored by exogenous expression of wild-type GBA1. Here, we report that the lysosomal membrane integrity is altered in GD fibroblasts, but lysosomal distribution and proteolytic activity is not significantly altered.</p><p>Key words: glucosylceramide, lysosome, Gaucher disease, lysosomotropic agent</p>
収録刊行物
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- Cell Structure and Function
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Cell Structure and Function 49 (1), 1-10, 2024
日本細胞生物学会
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詳細情報 詳細情報について
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- CRID
- 1390298897684500864
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- ISSN
- 13473700
- 03867196
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- HANDLE
- 2433/287247
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- PubMed
- 38072450
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- 本文言語コード
- en
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- データソース種別
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- JaLC
- IRDB
- Crossref
- PubMed
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- 抄録ライセンスフラグ
- 使用不可