Targeted metabolomic evaluation of peripheral blood mononucleated cells from patients with PMM2-CDG

Targeted metabolomic evaluation of peripheral blood mononucleated cells from patients with PMM2-CDG

Abstract Phosphomannomutase-2 (PMM2) deficiency represents the most common congenital disorder of glycosylation (CDG). Currently, little is known about cell metabolic alterations occurring in these patients. Here, we quantified compounds connected to protein glycosylation (GDP-mannose, UDP-derivativ...

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Main Authors: Renata Mangione, Lara Cirnigliaro, Miriam Wissam Saab, Fabio Pettinato, Alessandro Barbato, Alfio Distefano, Enrico La Spina, Giuseppe Lazzarino, Giovanni Li Volti, Lucia Longhitano, Daniele Tibullo, Alessandra Pittalà, Cesarina Giallongo, Valentina Di Pietro, Giovanni Tabbi, Salvatore Antonio Longo, Andrea Graziani, Barbara Tavazzi, Angela Maria Amorini, Giacomo Lazzarino, Rita Barone
Format: Article
Language:English
Published: Nature Portfolio 2025-05-01
Series:Scientific Reports
Subjects:
Phosphomannomutase2 deficiency
Protein glycosylation
UDP-derivatives
Energy metabolism
Peripheral blood mononucleated cells
HPLC
Online Access:https://doi.org/10.1038/s41598-025-98846-8
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https://doi.org/10.1038/s41598-025-98846-8

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