Bushra Afroze

Metabolic landscape of inborn errors of metabolism

This study uses metabolomics to analyze 474 subjects with inborn errors of metabolism, identifying genotype-specific metabolic alterations and providing diagnostic tools and a database of metabolomic features.

L-2-hydroxyglutarate impairs neuronal differentiation through epigenetic activation of MYC expression

This study shows that L-2HG accumulation due to L2HGDH deficiency impairs neuronal differentiation by epigenetically activating MYC, leading to stem cell self-renewal and reduced neuron formation.

An interactive web application for exploring human plasma and fibroblast metabolomics data from patients with inborn errors of metabolism

The paper introduces a web application for exploring metabolomics data from plasma and fibroblasts of patients with inborn errors of metabolism, enabling analysis of metabolic deviations and relationships.