Johannes N. Spelbrink

SIRT5 variants from patients with mitochondrial disease are associated with reduced SIRT5 stability and activity, but not with neuropathology

The paper identifies two SIRT5 variants in mitochondrial disease patients that reduce protein stability and activity but not neuropathology, using biochemical and mouse model analyses.

Let's make it clear: Systematic exploration of mitochondrial DNA- and RNA-protein complexes by complexome profiling

The paper optimizes complexome profiling to better study mitochondrial DNA- and RNA-protein interactions, demonstrating improved identification of interactors in human mitochondria with impaired gene expression.

Uncharacterized protein c17orf80: a novel interactor of human mitochondrial nucleoids

This paper identifies c17orf80 as a mitochondrial membrane protein interacting with nucleoids but not essential for mtDNA maintenance or expression in human cells.

A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome

This study identifies a homozygous ERAL1 mutation as the cause of Perrault syndrome, showing it disrupts mitochondrial ribosome assembly and function.