Publications by authors named "C Chery"
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 Celine Chery
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.
Monitoring of host cell proteins (HCPs) during the manufacturing of monoclonal antibodies (mAb) has become a critical requirement to provide effective and safe drug products. Enzyme-linked immunosorbent assays are still the gold standard methods for the quantification of protein impurities. However, this technique has several limitations and does, among others, not enable the precise identification of proteins.
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- Clinical exome sequencing (CES) is a cost-effective method for analyzing disease-related genes, showing a diagnostic yield of about 37.6% in a study of 603 patients with various Mendelian phenotypes.
- Key factors that predicted the utility of CES included the presence of severe phenotypes, having at least one family member tested, and prescriptions made by genetic experts.
- The findings from this study suggest that using CES as a first-level genetic test can enhance diagnostic efficiency in detecting monogenic disorders.