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MetabolomicsPositional Enrichment by Proton Analysis (PEPA): a One-Dimensional 1H-NMR Approach for 13C Stable Isotope Tracer Studies in Metabolomics
A novel metabolomics approach for NMR-based stable isotope tracer studies called PEPA is presented, and its performance validated using human cancer cells. PEPA detects the position of carbon label in isotopically enriched metabolites and quantifies fractional enrichment by indirect determination of...
2017-02-23 | MTBLS247 | MetaboLights
ProteomicsTLK2-associated intellectual disability: report of six novel cases and molecular characterization of p.(Asp551Gly) and p.(Ser617Leu) variants
Introduction The Tousled-Like Kinases 1 and 2 (TLK1 and TLK2) are involved in many fun-damental processes, including DNA replication, cell cycle checkpoint recovery and chromatin remodelling. Mutations in TLK2 were recently associated with “Mental Retardation Autoso-mal Dominant 57” (MRD57), a neuro...
ORGANISM(S): Homo sapiens (Human) 
2021-05-13 | PXD019450 | Pride
Tousled like kinases Tlk2 Autism spectrum disorder Proximal interac-tome Comet assay Bioid Intellectual disability Chromatin condensation Mrd57 
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