Daniela Karall

Naloxone as mitochondrial phenotype rescuer in a 3D bioprinted LCHADD/VLCADD model

Naloxone, a NOX2 inhibitor, largely restored mitochondrial networks and curbed a pro-fibrotic signature in LCHADD/VLCADD patient fibroblasts, and rescued impaired vessel formation in 3D bioprinted vascularized constructs.

TXNIP mediates LAT1/SLC7A5 endocytosis to reduce amino acid uptake in cells entering quiescence

The paper identifies TXNIP as a regulator of amino acid uptake during cellular quiescence by mediating endocytosis of the LAT1/SLC7A5 transporter.

Biochemical signatures from dried blood spots in untargeted metabolics are influenced by matrix effects

The paper investigates matrix effects on metabolite recovery from dried blood spots (DBS) and shows that despite these effects, DBS can be used for diagnostics with proper validation.

Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes

This study analyzes 2,023 pediatric exomes to diagnose mitochondrial disease, identifying 1,109 molecular diagnoses and 62 novel disease genes through exome sequencing and functional studies.