Identification of GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its Storage Reduction

Gaucher disease (GD) is a rare genetic metabolic disorder characterized by a dysfunction of the lysosomal glycoside hydrolase glucocerebrosidase (GCase) due to mutations in the gene GBA1, leading to the cellular accumulation of glucosylceramide (GlcCer). While most of the current research focuses on...

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主要な著者:	Costanza Ceni, Francesca Clemente, Francesca Mangiavacchi, Camilla Matassini, Rodolfo Tonin, Anna Caciotti, Federica Feo, Domenico Coviello, Amelia Morrone, Francesca Cardona, Martino Calamai
フォーマット:	Artigo
言語:	Inglês
出版事項:	MDPI AG 2024-01-01
シリーズ:	Molecules
主題:	metabolic disorders lysosome glucocerebrosidase glucosylceramide GM1 flow cytometry
オンライン･アクセス:	https://www.mdpi.com/1420-3049/29/2/453
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