Tegan L. Stait

De novo truncation variants in the low-complexity C-terminal region of XRN1 are associated with a dominant form of lethal infantile mitochondrial cardiomyopathy

The paper identifies de novo truncating variants in XRN1's C-terminal region causing lethal infantile mitochondrial cardiomyopathy by disrupting its interaction with EDC4.

alpha-Actinin-3 deficiency protects from the effects of acute cold exposure through altered skeletal muscle Ca2+ and OXPHOS signaling.

This study shows that alpha-actinin-3 deficiency improves cold tolerance through enhanced mitochondrial function and reduced muscle mass loss during acute cold exposure.

Untargeted proteomics enables ultra-rapid variant prioritization in mitochondrial and other rare diseases

This study uses untargeted proteomics to rapidly prioritize genetic variants in mitochondrial and other rare diseases, achieving functional evidence for 83% of cases in a cohort.