Olivia D’Annibale

NFIX missense variants that disrupt the β-hairpin loop result in a severe form of Malan syndrome in adolescence with rapidly evolving scoliosis and muscle wasting

The paper identifies severe NFIX missense variants causing a subtype of Malan syndrome with progressive musculoskeletal issues and shows variant-specific DNA-binding disruptions.

Systemic Metabolic Rewiring in a Mouse Model of Left Ventricular Hypertrophy

This study investigates systemic metabolic changes in a mouse model of left ventricular hypertrophy, finding that exogenous long-chain fatty acid supplementation improves mitochondrial function but does not fully reverse the disease phenotype.

Oral octanoylcarnitine alleviates exercise intolerance in mouse models of long-chain fatty acid oxidation disorders

This study shows that oral octanoylcarnitine improves exercise tolerance and reduces metabolic stress in mouse models of long-chain fatty acid oxidation disorders.

A multiomics approach to understanding pathology of Combined D,L-2- Hydroxyglutaric Aciduria and phenylbutyrate as potential treatment

This study investigates the pathology of Combined D,L-2-Hydroxyglutaric Aciduria and evaluates phenylbutyrate as a potential treatment through metabolomic and RNA-seq analyses.