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...

書目詳細資料
發表在:	Molecules
Main Authors:	Costanza Ceni, Francesca Clemente, Francesca Mangiavacchi, Camilla Matassini, Rodolfo Tonin, Anna Caciotti, Federica Feo, Domenico Coviello, Amelia Morrone, Francesca Cardona, Martino Calamai
格式:	Article
語言:	英语
出版:	MDPI AG 2024-01-01
主題:	metabolic disorders lysosome glucocerebrosidase glucosylceramide GM1 flow cytometry
在線閱讀:	https://www.mdpi.com/1420-3049/29/2/453

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