Summary of project PR002290

This data is available at the NIH Common Fund's National Metabolomics Data Repository (NMDR) website, the Metabolomics Workbench, https://www.metabolomicsworkbench.org, where it has been assigned Project ID PR002290. The data can be accessed directly via it's Project DOI: 10.21228/M8MP0C This work is supported by NIH grant, U2C- DK119886.

See: https://www.metabolomicsworkbench.org/about/howtocite.php

Project ID: PR002290
Project DOI:doi: 10.21228/M8MP0C
Project Title:Beneficial effects of Glucose-1,6-bisphosphate modulation on mutant phosphomannomutase-2
Project Type:NMR analysis
Project Summary:NMRbased metabolomic analysis performed on two cell lines to investigate glucose-1,6-bisphosphate modulation in PMM2-related congenital disorder of glycosylation for new drug discovery perspectives: 1. Arg141His/Phe119LeuPMM2 patient-derived fibroblasts with a knock-out of the PMM1 gene 2. Arg141His/Phe119LeuPMM2 patient-derived fibroblasts scramble.
Institute:Institute of Biomolecular Chemistry (ICB-CNR)
Last Name:Monticelli
First Name:Maria
Address:via Campi Flegrei 34, 80078 Pozzuoli (NA)
Email:maria.monticelli@unina.it
Phone:+39 3663514733
Funding Source:PRIN 2022B2N2BY by MUR, Joint Bilateral Agreement CNR/Slovak Academy of Sciences, EU NextGenerationEU through the Recovery and Resilience Plan for Slovakia
Contributors:Maria Monticelli, Debora Paris, Maria Chiara Monti, Elva Morretta, Zuzana Pakanova, Marek Nemcovic, Rebeka Kodrikova, Maria Vittoria Cubellis, Giuseppina Andreotti

Summary of all studies in project PR002290

Study IDStudy TitleSpeciesInstituteAnalysis
(* : Contains Untargted data)		 Release
Date		VersionSamplesDownload
(* : Contains raw data)
ST003691 Beneficial effects of Glucose-1,6-bisphosphate modulation on mutant phosphomannomutase-2 Homo sapiens Institute of Biomolecular Chemistry (ICB-CNR) NMR 2025-07-07 1 10 Uploaded data (53.3M)*
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