Uwe Richter

Pathogenic PTCD1 variants cause mitochondrial protein aggregation and cardiomyopathy

This study identifies pathogenic PTCD1 variants causing mitochondrial protein aggregation and cardiomyopathy by disrupting mitoribosome biogenesis and proteostasis.

Translation of MT-ATP6 pathogenic variants reveals distinct regulatory consequencesfrom the co-translational quality control of mitochondrial protein synthesis.

The paper investigates how pathogenic variants in MT-ATP6 affect mitochondrial protein synthesis quality control and reveals distinct regulatory consequences on mitochondrial gene expression.

Mice harboring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity.

This study creates a new mouse model with a patient-derived SCA28 mutation and shows it leads to late-onset ataxia and mitochondrial dysfunction.