Melanie Barzik

Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype

This study identifies biallelic DAP3 variants causing mitoribosomal dysfunction, leading to combined oxidative phosphorylation deficiency and Perrault syndrome-like features.

Myosin 18Aα targets guanine nucleotide exchange factor β-Pix to dendritic spines of cerebellar Purkinje neurons to promote spine maturation

This study shows that myosin 18Aα recruits β-Pix to dendritic spines in Purkinje neurons, enhancing spine maturation through actin and myosin filament assembly.

A homozygous variant in mitochondrial RNase P subunit PRORP is associated with Perrault syndrome characterized by hearing loss and primary ovarian insufficiency

The paper identifies a homozygous variant in KIAA0391 (PRORP) as a cause of Perrault syndrome, showing reduced mitochondrial RNase P activity and impaired tRNA processing.