Felix Distelmaier

This study uses patient-derived iPSCs to model a MIC13 variant causing mitochondrial liver disease, revealing metabolic defects and early fibrosis through multi-omics analysis.

The paper identifies L2HGDH as a component of the COQ metabolon, linking L-2-hydroxyglutarate recycling to coenzyme Q biosynthesis and showing its role in maintaining biosynthetic intermediates.

The paper uses fibroblast RNA-seq to improve molecular diagnosis in dystonia patients by identifying RNA expression and splicing defects missed by genomic sequencing.

This study uses optical genome mapping to identify de novo and rare inherited structural variants in 57 patient-parent trios, finding 13 de novo SVs and 11 rare inherited SVs, some of which are pathogenic or candidate disease-causing.

The paper identifies repurposable drugs for mitochondrial disease by using deep learning to screen for compounds that improve neuronal commitment and neurogenesis in Leigh syndrome organoids.

This study links proteotoxic stress from defective autophagy to epileptogenesis in Drosophila and Vici Syndrome patients, suggesting autophagy-stimulating diets as a potential treatment.

This study identifies lutein as a potential therapeutic for mitochondrial dysfunction-induced neurodevelopmental defects in C. elegans by restoring neuroligin expression.

The paper implements RNA-seq in diagnostics for Mendelian diseases, achieving a 16% diagnosis rate in WES-inconclusive cases by detecting aberrant expression, splicing, and mono-allelic expression.

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.

Adding tandem mass tag proteomics to genome and transcriptome data resolved 22% of 121 unsolved suspected mitochondrial disease cases and surfaced two new disease genes.

This study uses RNA sequencing to identify genetic diagnoses in mitochondrial disease patients by detecting aberrant gene expression and splicing events.