Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content.

doi:10.1038/s41598-019-53995-5

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Article

Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content.

Scientific reports - 27 Nov 2019

Tonin Rodolfo, Caciotti Anna, Procopio Elena, Fischetto Rita, Deodato Federica, Mancardi Maria Margherita, Di Rocco Maja, Ardissone Anna, Salviati Alessandro, Marangi Antonio, Strisciuglio Pietro, Mangone Giusi, Casini Arianna, Ricci Silvia, Fiumara Agata, Parini Rossella, Pavone Francesco Saverio, Guerrini Renzo, Calamai Martino, Morrone Amelia

Abstract excerpt

GM1 ganglioside, a monosialic glycosphingolipid and a crucial component of plasma membranes, accumulates in lysosomal storage disorders, primarily in GM1 gangliosidosis. The development of biomarkers for simplifying diagnosis, monitoring disease progression and evaluating drug therapies is an important objective in research into neurodegenerative lysosomal disorders. With this in mind, we established fluorescent...

Topics

1-Deoxynojirimycin
Biomarkers
Cells, Cultured
Disease Progression
Female
Fibroblasts
Flow Cytometry
G(M1) Ganglioside
Gangliosidosis, GM1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Glycoside Hydrolase Inhibitors

Humans

Lymphocytes

Male

Optical Imaging

Phenotype

Severity of Illness Index

Source

Open in PubMed Open full text

Identifiers

PMID: 31776384
DOI: 10.1038/s41598-019-53995-5
PMCID: PMC6881353

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