Work

Metabolic analysis as a driver for discovery, diagnosis, and therapy

Year: 2022
Type: review
Abstract: Metabolic anomalies contribute to tissue dysfunction. Current metabolism research spans from organelles to populations, and new technologies can accommodate investigation across these scales. Here, we review recent advancements in metabolic analysis, including small-scale metabolomics techniques amenable to organelles and rare cell types, functional screening to explore how cells respond to metabolic stress, and imaging approaches to non-invasively assess metabolic perturbations in diseases. We discuss how metabolomics provides an informative phenotypic dimension that complements genomic analysis in Mendelian and non-Mendelian disorders. We also outline pressing challenges and how addressing them may further clarify the biochemical basis of human disease.
Source: Cell
Language: English
Open Access status: hybrid
Estimated APC paid: $9,900
OpenAlex ID: W4285404902
FWCI: 3.571
Cites: 96
Cited by: 172
Related to: 10