Andreas Roos

This study examines how SAHA affects skeletal muscle differentiation in C2C12 and L6 cells, showing delayed early differentiation and model-dependent changes in gene and protein expression.

The paper presents a standardized RNA-seq analysis framework for rare disease diagnosis, identifying molecular diagnoses in 7.7% of previously undiagnosed cases.

This study shows that acute AMPK activation fails to improve insulin signaling in DM1 mouse and human models, indicating impaired insulin resistance mechanisms.

This study investigates how Remodelin, a Nat10 inhibitor, affects myoblast differentiation in murine and rat cells, showing impaired myotube formation and maturation.

This study identifies mitochondrial dysfunction and mtDNA damage as early triggers of immune response in PM-Mito and IBM, linking mitochondrial abnormalities to inflammation and disease progression.

This study uses LIS1-lissencephaly patient organoids to identify severity-dependent phenotypes and molecular mechanisms, and demonstrates that mTOR inhibitors can rescue disease-related changes.

The paper identifies six rare de novo missense variants in WDR5 associated with neurodevelopmental disorders and highlights their impact on COMPASS family protein interactions.

The paper identifies a metabolic shift involving amino acid availability and mitochondrial biogenesis as the mechanism underlying recovery in reversible infantile respiratory chain deficiency.