Publications by authors named "Manon Jeandel"
Corrigendum to Multiomic analysis in fibroblasts of patients with inborn errors of cobalamin metabolism reveals concordance with clinical and metabolic variability [eBioMedicine 99 (2024), 104911].
Arnaud Wiedemann Abderrahim Oussalah Rosa-Maria Guéant Rodriguez Elise Jeannesson Marc Merten Manon Jeandel
EBioMedicine
December 2024
Article Synopsis
- - The study investigates the complex clinical and metabolic effects associated with inborn errors of cobalamin metabolism, particularly focusing on cblC and epi-cblC cases, to better understand their variability and underlying mechanisms.
- - Researchers utilized metabolomic, genomic, proteomic, and post-translational modification analyses on fibroblasts from cblC and cblG patient cases, revealing notable disruptions in metabolic pathways such as the urea cycle and mitochondrial energy production.
- - Findings highlight significant changes in enzyme expression and activity, which could explain clinical symptoms like neurological issues and developmental delays in patients; further research is needed to confirm these connections.