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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Detalhes bibliográficos

Principais autores:	Costanza Ceni, Francesca Clemente, Francesca Mangiavacchi, Camilla Matassini, Rodolfo Tonin, Anna Caciotti, Federica Feo, Domenico Coviello, Amelia Morrone, Francesca Cardona, Martino Calamai
Formato:	Artigo
Idioma:	Inglês
Publicado em:	MDPI AG 2024-01-01
coleção:	Molecules
Assuntos:	metabolic disorders lysosome glucocerebrosidase glucosylceramide GM1 flow cytometry
Acesso em linha:	https://www.mdpi.com/1420-3049/29/2/453
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